ENU mutagenesis induced a T to C transition at base pair 66,841,172 (v38) on chromosome 4, or base pair 13,362 in the NC_000070 GenBank genomic region. The mutation corresponds to residue 2,482 in the mRNA sequence NM_021297 within exon 3 of 3 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 734 (V734A) in the protein. (J:224666)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count