ENU-induced A to G transition at base pair 117,291,895 (v38) on chromosome 2, or base pair 50,983 in the GenBank genomic region NC_000068 encoding Rasgrp1. The mutation corresponds to residue 1,181 in the mRNA sequence NM_011246 within exon 9 of 17 total exons. The mutation results in an aspartic acid to glycine substitution at position 338 (D338G) in the RasGRP1 protein. (J:267490)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count