Acquired variants identified by whole-exome sequencing
| Gene . | Mouse variant . | Reported mutation(s) in patients* . | Classification in mouse WES† . |
|---|---|---|---|
| Kras | p.G12D | p.G12D | Unique |
| Celsr1 | p.R2319W | p.P2600H | Unique |
| Kmt2a (MLL1) | p.T1311I | translocations, PTD | Recurrent |
| Ttn | p.G11436R | p.E12813K, p.I13568_ins | Recurrent |
| Brinp3 (FAM5C) | 3′UTR* | p.R719C, p.T119S | Not in “high confidence” |
| Npm1 | V60I | frameshift in last exon | Not in “high confidence” |
| Tead1 | 3′UTR | p.I12S | Not in “high confidence” |
| Gene . | Mouse variant . | Reported mutation(s) in patients* . | Classification in mouse WES† . |
|---|---|---|---|
| Kras | p.G12D | p.G12D | Unique |
| Celsr1 | p.R2319W | p.P2600H | Unique |
| Kmt2a (MLL1) | p.T1311I | translocations, PTD | Recurrent |
| Ttn | p.G11436R | p.E12813K, p.I13568_ins | Recurrent |
| Brinp3 (FAM5C) | 3′UTR* | p.R719C, p.T119S | Not in “high confidence” |
| Npm1 | V60I | frameshift in last exon | Not in “high confidence” |
| Tead1 | 3′UTR | p.I12S | Not in “high confidence” |
_ins, in-frame insertion; PTD, partial tandem duplication; 3′UTR*, change predicted by SnpEff to lead to increased nonsense-mediated decay; WES, whole-exome sequencing.
Mutations reported in patients with hematological malignancies.
Variants identified in 1 mouse disease sample (“unique”) or in multiple disease samples (“recurrent”) compared with control DNA, with predicted amino acid change. Not in “high confidence” variants are only identified when compared with one control sample individually.