ENU-induced T to A transversion at base pair 117,291,792 (v38) on chromosome 2, or base pair 51,086 in the GenBank genomic region NC_000068 encoding Rasgrp1. The mutation corresponds to residue 1,284 in the mRNA sequence NM_011246 within exon 9 of 17 total exons. The mutation results in substitution of tyrosine 372 for a premature stop codon (Y372*). (J:265255)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count