ENU-induced A to G transition at base pair 145,930,587 (v38) on chromosome 3, or base pair 6,326 in the GenBank genomic region NC_000069 encoding Bcl10. The mutation corresponds to residue 436 in the mRNA sequence NM_009740 within exon 2 of 3 total exons. The mutation results in an aspartic acid to glycine substitution at position 80 (D80G) in the Bcl10 protein. (J:265122)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count