ENU-induced A to T transversion at base pair 45,001,128 (v38) on chromosome 9, or base pair 8,537 in the GenBank genomic region NC_000075 encoding Cd3e. The mutation corresponds to residue 416 in the mRNA sequence NM_007648 within exon 6 of 8 total exons. The mutation results in a glutamic acid to valine substitution at position 106 (E106V) in the CD3 protein. (J:274934)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count