ENU-induced to A transversion at base pair 158,782,403 (v38) on chromosome 1, or base pair 198,125 in the GenBank genomic region NC_000067 within intron 15 (nine base pairs from exon 16). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 15. The resulting transcript would have a 7-base pair insertion of intron 15, which would cause a frame-shifted protein product beginning after amino acid 1,499 of the protein and premature termination after the inclusion of 10 aberrant amino acids. (J:254896)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count