ENU-induced G to A transition at base pair 95,721,132 (v38) on chromosome 9, or base pair 29,256 in the GenBank genomic region NC_000075 within the donor splice site of intron 7. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 337-nucleotide exon 7 (out of 13 total exons), resulting in a frame-shifted protein product beginning after amino acid 336 of the protein and premature termination after the inclusion of one aberrant amino acid. (J:272098)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count