ENU-induced T to C transition at base pair 36,779,173 (v38) on chromosome 1, or base pair 17,376 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,102 in the mRNA sequence NM_001289766 within exon 2 of 13 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 314 (Y314H) in the protein.