ENU-induced T to A transversion at base pair 36,781,365 (v38) on chromosome 1, or base pair 19,568 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,802 in the mRNA sequence NM_001289766 within exon 12 of 13 total exons. The mutation results in a valine to aspartic acid substitution at position 547 (V547D) in the protein. (J:254831)