Wdr41^m1Btlr

T to A transversion at base pair 95,015,217 (v38) on chromosome 13, or base pair 39,003 in the GenBank genomic region NC_000079 within the splice donor site of intron 10 (2-base pairs from exon 10) (NM_172590.3; 1077+2T>A). 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 10. The resulting transcript would have a 4-base pair insertion of intron 10, which would cause a frame shifted protein product beginning after amino acid 294 of the protein and premature termination after the inclusion of 14 aberrant amino acids. (J:268243)