ENU-induced T to A transversion at base pair 28,781,832 (v38) on chromosome 10, or base pair 113,506 in the GenBank genomic region NC_000076 encoding Themis. The mutation corresponds to residue 1,154 in the mRNA sequence NM_178666 within exon 4 of 6 total exons. The mutation results in a valine to glutamic acid substitution at position 285 (V285E) in the Themis protein. (J:272849)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count