ENU-induced T to C transition at base pair 53,531,648 (v38) on chromosome 9, or base pair 5,169 in the GenBank genomic region NC_000075. The mutation corresponds to residue 453 in the mRNA sequence NM_007499 within exon 4 of 64 total exons. The mutation results in an isoleucine to threonine substitution at amino acid 105 (I105T) in the ATM protein. (J:272820)