ENU-induced A to G transition at base pair 10,031,545 (v38) on chromosome 8, or base pair 25,343 in the GenBank genomic region NC_000074 encoding Tnfsf13b. The mutation corresponds to residue 916 in the mRNA sequence NM_033622 within exon 6 of 7 total exons. The mutation results in an isoleucine to valine substitution at position 236 (I236V) in isoform 1 of the BAFF protein. (J:272850)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count