Table 1.

Activating Notch 1 mutations occur at a high frequency in mouse T-ALL

Tumor
Genotype
Phenotype
Nucleotide change*
Amino acid change†
Mutational consequence
5046  Tal1/+  ND   Insertion G 7501   Insertion 2421   Premature stop in PEST domain  
5151  Tal1/+  ND   Deletion CCCTGACCAGTGGT 7716   Deletion 2492   Premature stop in PEST domain  
5146  Tal1/+  ND   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
1444  Tal1/+  DP   Deletion AC 7320   Deletion 2360   Premature stop in PEST domain  
5015  Tal1/+  ND   Insertion CGTGG 7322   Insertion 2361   Premature stop in PEST domain  
1330  Tal1/+  CD8 SP   Wild type   NA   NA  
5148  Tal1/+  ND   Wild type   NA   NA  
5188  Tal1/+  ND   Insertion GG 7322   Deletion 2361   Premature stop in PEST domain  
1161  Tal1/+  ND   C>T 7495   Q>stop 2419   Premature stop in PEST domain  
5145  Tal1/+  ND   Insertion C 7322   Insertion 2361   Premature stop in PEST domain  
4862  Tal1/+  DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
1469  Tal1/+  CD4 SP   Insertion GGGGGGGG 7324   Insertion 2361   Premature stop in PEST domain  
1011  Tal1/+  CD8 SP   C>T 7495   Q>stop 2419   Premature stop in PEST domain  
8998  Tal1/+HEB+/−  ND   C>T 7129   Q>stop 2296   Premature stop in PEST domain  
9450  Tal1/+HEB+/−  ND   Insertion C 7510   Insertion 2420   Premature stop in PEST domain  
9205  Tal1/+HEB+/−  DP   C>T 5243   L>P 1668   Missense in heterodimerization domain  
9306  Tal1/+HEB+/−  ND   Wild type   NA   NA  
6839  Tal1/+HEB+/−  ND   Insertion CCTC 7321   Insertion 2361   Premature stop in PEST domain  
8283  Tal1/+HEB+/−  ND   Wild type   NA   NA  
3199  Tal1/+Ink4a/Arf+/−  CD8 SP   Deletion C 7520   Deletion 2427   Premature stop in PEST domain  
2871  Tal1/+Ink4a/Arf+/−  ND   Wild type   NA   NA  
3483  Tal1/+Ink4a/Arf+/−  CD8 SP and DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
2869  Tal1/+Ink4a/Arf+/−  CD8 SP   Wild type   NA   NA  
3460  Tal1/+Ink4a/Arf+/−  ND   C>T 7384   Q>stop 2382   Premature stop in PEST domain  
3570  Tal1/+Ink4a/Arf+/−  CD8 SP and DP   Wild type   NA   NA  
2902  Tal1/+Ink4a/Arf+/−  DP   Insertion C 7663   Insertion 2475   Premature stop in PEST domain  
3150  Tal1/+Ink4a/Arf+/−  ND   Insertion G 7325   Insertion 2362   Premature stop in PEST domain  
603  H2AX−/−Tp53−/−  DP   Deletion GGCTGGCAACACAG 7320   Deletion 2361   Premature stop in PEST domain  
541  H2AX−/−Tp53+/−RAG−/−  DP   Wild type   NA   NA  
706  Tp53−/−  ND   Wild type   NA   NA  
720  H2AX−/−Tp53−/−  DP and CD8 SP   Insertion C 7322   Insertion 2361   Premature stop in PEST domain  
80  H2AX−/−Tp53−/−  ND   Wild type   NA   NA  
538  Tp53−/−  CD8   Wild type   NA   NA  
364  H2AX−/−  DP   Insertion G 7436   Insertion 2399   Premature stop in PEST domain  
799  H2AX−/−Tp53+/−RAG−/−  ND   Wild type   NA   NA  
311  H2AX−/−Tp53−/−RAG−/−  DN, DP and CD8 SP   Wild type   NA   NA  
859  H2AX+/−Tp53−/−  DP   Wild type   NA   NA  
618  H2AX−/−Tp53−/−  DN, DP and CD8 SP   Deletion GCCACAGAACTTACAGCT CCAGCCTCAGA 7365   Deletion 2374   Premature stop in PEST domain  
455  H2AX−/−  DP   G>C 5308   A>P 1690   Missense in heterodimerization domain  
727  H2AX−/−Tp53−/−  DP   Wild type   NA   
613  H2AX+/−Tp53−/−  DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
84  H2AX−/−Tp53−/−  ND   Wild type   NA   NA  
310  H2AX+/−Tp53−/−  ND   Deletion ATGTACAACCGCTGGGCC CCAGCAG 7490   Deletion 2417   Premature stop in PEST domain  
308  H2AX−/−Tp53−/−RAG−/−  DN and CD8 SP   Wild type   NA   NA  
761  H2AX−/−Tp53−/−RAG−/−  DP   Wild type   NA   NA  
728  H2AX−/−Tp53−/−  DP   Wild type   NA   NA  
274  H2AX+/−Tp53−/−  DN and CD8 SP   Wild type   NA   NA  
814  H2AX+/−Tp53−/−  ND   Wild type   NA   NA  
634
 		H2AX−/−Tp53−/−
 		 DP
 		 Insertion T 7518
 		 Insertion 2426
 		 Premature stop in PEST domain
 
540  Tp53−/−RAG−/−  CD8   Wild type   NA   NA  
   DN and     
696  H2AX−/−Tp53−/−  CD8 SP   Wild type   NA   NA  
24  H2AX−/−Tp53+/−RAG−/−  DP   Wild type   NA   NA  
   DP and     
414  H2AX−/−Tp53+/−RAG−/−  CD8 SP   Wild type   NA   NA  
814  H2AX−/−Tp53+/−RAG−/−  DN and   Deletion   Deletion 2425   Premature stop in PEST domain  
   CD8 SP   AGTCTGCCTGTGCACACC    
    ATTCTGCCCCAGGAAAGC    
    CAGGCCCTGCCCACATCA    
    CTGCCATCCTCCATGGTCC    
    CACCCATGACCACTACCC    
    AGTTCCTGAC 7513    
    Deletion   Deletion 2460   
    CTTCCCAGCACAGTTACTC    
    CTCCTCCCCTGTGGACAAC    
    ACCCCCAGCCACCAGCTG    
    CAGGTGCCAGAGCACCCC    
    TTCCTCACCCCATCCCCTG    
    AGTCCCCTGACCAGTGGT    
    CCAGCTCCTCCCCGCATTC    
    CAACATCTCTGATTGGTCC    
    GAGGGCATCTCCAGCCCG    
    CCCACCACCATGCCGTCCC    
    AGATCACCCACATTCCAG    
    AGGCATTTAAAT 7619    
399  H2AX−/−Tp53+/−RAG−/−  DP and   Wild type   NA   NA  
   CD8 SP     
531
 		H2AX−/−Tp53+/−RAG−/−
 		 DN
 		 Wild type
 		 NA
 		 NA
 
Tumor
Genotype
Phenotype
Nucleotide change*
Amino acid change†
Mutational consequence
5046  Tal1/+  ND   Insertion G 7501   Insertion 2421   Premature stop in PEST domain  
5151  Tal1/+  ND   Deletion CCCTGACCAGTGGT 7716   Deletion 2492   Premature stop in PEST domain  
5146  Tal1/+  ND   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
1444  Tal1/+  DP   Deletion AC 7320   Deletion 2360   Premature stop in PEST domain  
5015  Tal1/+  ND   Insertion CGTGG 7322   Insertion 2361   Premature stop in PEST domain  
1330  Tal1/+  CD8 SP   Wild type   NA   NA  
5148  Tal1/+  ND   Wild type   NA   NA  
5188  Tal1/+  ND   Insertion GG 7322   Deletion 2361   Premature stop in PEST domain  
1161  Tal1/+  ND   C>T 7495   Q>stop 2419   Premature stop in PEST domain  
5145  Tal1/+  ND   Insertion C 7322   Insertion 2361   Premature stop in PEST domain  
4862  Tal1/+  DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
1469  Tal1/+  CD4 SP   Insertion GGGGGGGG 7324   Insertion 2361   Premature stop in PEST domain  
1011  Tal1/+  CD8 SP   C>T 7495   Q>stop 2419   Premature stop in PEST domain  
8998  Tal1/+HEB+/−  ND   C>T 7129   Q>stop 2296   Premature stop in PEST domain  
9450  Tal1/+HEB+/−  ND   Insertion C 7510   Insertion 2420   Premature stop in PEST domain  
9205  Tal1/+HEB+/−  DP   C>T 5243   L>P 1668   Missense in heterodimerization domain  
9306  Tal1/+HEB+/−  ND   Wild type   NA   NA  
6839  Tal1/+HEB+/−  ND   Insertion CCTC 7321   Insertion 2361   Premature stop in PEST domain  
8283  Tal1/+HEB+/−  ND   Wild type   NA   NA  
3199  Tal1/+Ink4a/Arf+/−  CD8 SP   Deletion C 7520   Deletion 2427   Premature stop in PEST domain  
2871  Tal1/+Ink4a/Arf+/−  ND   Wild type   NA   NA  
3483  Tal1/+Ink4a/Arf+/−  CD8 SP and DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
2869  Tal1/+Ink4a/Arf+/−  CD8 SP   Wild type   NA   NA  
3460  Tal1/+Ink4a/Arf+/−  ND   C>T 7384   Q>stop 2382   Premature stop in PEST domain  
3570  Tal1/+Ink4a/Arf+/−  CD8 SP and DP   Wild type   NA   NA  
2902  Tal1/+Ink4a/Arf+/−  DP   Insertion C 7663   Insertion 2475   Premature stop in PEST domain  
3150  Tal1/+Ink4a/Arf+/−  ND   Insertion G 7325   Insertion 2362   Premature stop in PEST domain  
603  H2AX−/−Tp53−/−  DP   Deletion GGCTGGCAACACAG 7320   Deletion 2361   Premature stop in PEST domain  
541  H2AX−/−Tp53+/−RAG−/−  DP   Wild type   NA   NA  
706  Tp53−/−  ND   Wild type   NA   NA  
720  H2AX−/−Tp53−/−  DP and CD8 SP   Insertion C 7322   Insertion 2361   Premature stop in PEST domain  
80  H2AX−/−Tp53−/−  ND   Wild type   NA   NA  
538  Tp53−/−  CD8   Wild type   NA   NA  
364  H2AX−/−  DP   Insertion G 7436   Insertion 2399   Premature stop in PEST domain  
799  H2AX−/−Tp53+/−RAG−/−  ND   Wild type   NA   NA  
311  H2AX−/−Tp53−/−RAG−/−  DN, DP and CD8 SP   Wild type   NA   NA  
859  H2AX+/−Tp53−/−  DP   Wild type   NA   NA  
618  H2AX−/−Tp53−/−  DN, DP and CD8 SP   Deletion GCCACAGAACTTACAGCT CCAGCCTCAGA 7365   Deletion 2374   Premature stop in PEST domain  
455  H2AX−/−  DP   G>C 5308   A>P 1690   Missense in heterodimerization domain  
727  H2AX−/−Tp53−/−  DP   Wild type   NA   
613  H2AX+/−Tp53−/−  DP   Deletion CT 7709   Deletion 2490   Premature stop in PEST domain  
84  H2AX−/−Tp53−/−  ND   Wild type   NA   NA  
310  H2AX+/−Tp53−/−  ND   Deletion ATGTACAACCGCTGGGCC CCAGCAG 7490   Deletion 2417   Premature stop in PEST domain  
308  H2AX−/−Tp53−/−RAG−/−  DN and CD8 SP   Wild type   NA   NA  
761  H2AX−/−Tp53−/−RAG−/−  DP   Wild type   NA   NA  
728  H2AX−/−Tp53−/−  DP   Wild type   NA   NA  
274  H2AX+/−Tp53−/−  DN and CD8 SP   Wild type   NA   NA  
814  H2AX+/−Tp53−/−  ND   Wild type   NA   NA  
634
 		H2AX−/−Tp53−/−
 		 DP
 		 Insertion T 7518
 		 Insertion 2426
 		 Premature stop in PEST domain
 
540  Tp53−/−RAG−/−  CD8   Wild type   NA   NA  
   DN and     
696  H2AX−/−Tp53−/−  CD8 SP   Wild type   NA   NA  
24  H2AX−/−Tp53+/−RAG−/−  DP   Wild type   NA   NA  
   DP and     
414  H2AX−/−Tp53+/−RAG−/−  CD8 SP   Wild type   NA   NA  
814  H2AX−/−Tp53+/−RAG−/−  DN and   Deletion   Deletion 2425   Premature stop in PEST domain  
   CD8 SP   AGTCTGCCTGTGCACACC    
    ATTCTGCCCCAGGAAAGC    
    CAGGCCCTGCCCACATCA    
    CTGCCATCCTCCATGGTCC    
    CACCCATGACCACTACCC    
    AGTTCCTGAC 7513    
    Deletion   Deletion 2460   
    CTTCCCAGCACAGTTACTC    
    CTCCTCCCCTGTGGACAAC    
    ACCCCCAGCCACCAGCTG    
    CAGGTGCCAGAGCACCCC    
    TTCCTCACCCCATCCCCTG    
    AGTCCCCTGACCAGTGGT    
    CCAGCTCCTCCCCGCATTC    
    CAACATCTCTGATTGGTCC    
    GAGGGCATCTCCAGCCCG    
    CCCACCACCATGCCGTCCC    
    AGATCACCCACATTCCAG    
    AGGCATTTAAAT 7619    
399  H2AX−/−Tp53+/−RAG−/−  DP and   Wild type   NA   NA  
   CD8 SP     
531
 		H2AX−/−Tp53+/−RAG−/−
 		 DN
 		 Wild type
 		 NA
 		 NA
 

ND indicates not determined. NA indicates not applicable.

*

Numbers correspond to nucleotide positions in Notch1 cDNA.

†

Numbers indicate amino acid residues in Notch1 at which mutations occur.

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