ENU-induced T to C transition at base pair 111,322,748 (v38) on chromosome 8, or base pair 15,709 in the GenBank genomic region NC_000074. The mutation corresponds to residue 1,126 in the mRNA sequence NM_001310613 within exon 5 of 11 total exons. The mutation results in a serine to proline substitution at position 248 (S248P) in the MLKL protein. (J:272831)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count