ENU-induced A to T transversion at base pair 164,065,661 (v38) on chromosome 1, or base pair 3,849 in the GenBank genomic region NC_000067. The mutation corresponds to residue 558 in the mRNA sequence NM_011346 within exon 3 of 9 total exons and residue 558 in the mRNA sequence within exon 3 of 8 total exons. The mutation results in a substitution of Lys 149 (K149) to a premature stop codon (K149*). (J:231806)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count