ENU-induced A to G transition at base pair 57,401,977 (v38) on chromosome 17, or base pair 43,327 in the GenBank genomic region NC_000083. The mutation corresponds to residue 207 in the mRNA sequence NM_010130 within exon 13 of 22 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at position 56 (Y56C) in the protein.