ENU-induced T to C transition at base pair 164,079,566 (v38) on chromosome 2, or base pair 5,454 in the GenBank genomic region NC_000068 encoding Stk4. The mutation corresponds to residue 124 in the mRNA sequence NM_021420 within exon 2 of 11 total exons. The mutation results in a phenylalanine to serine substitution at position 30 (F30S) in the STK4 protein. (J:265245)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count