ENU mutagenesis induced a T to A transversion at base pair 59,548,476 (v38) on chromosome 11, or base pair 6,908 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,104 in the mRNA sequence NM_145827 within exon 4 of 10 total exons. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 293 (I293N) in the protein, and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.991). (J:217294)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count