ENU-induced A to T transversion at base pair 164,083,688 (v38) on chromosome 2, or base pair 9,576 in the GenBank genomic region NC_000068 encoding Stk4. The mutation corresponds to residue 210 in the mRNA sequence NM_021420 within exon 3 of 11 total exons. The mutation results in substitution of lysine 58 for a premature stop codon (K59*) in the STK4 protein. (J:265237)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count