ENU-induced T to A transversion at base pair 158,834,918 (v38) on chromosome 1, or base pair 145,606 in the GenBank genomic region NC_000067. The mutation corresponds to residue 3,486 in the mRNA sequence NM_001085376 in exon 10 of 22 total exons. The mutation results in substitution of tyrosine 1,162 to a premature stop codon (Y1162*) in the protein. (J:234256)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count