ENU-induced G to A transition at base pair 65,314,796 (v38) on chromosome 4, or base pair 190,623 in the GenBank genomic region NC_000070 within the donor splice site of intron 16 (5-base pairs from exon 16 [out of 22 total exons]). 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 exon 16. The resulting transcript would have a 71-base pair deletion of exon 16, resulting in a frame-shifted protein product beginning after amino acid 1,365 of the protein (which is normally 1,624 amino acids in length) and terminating after the inclusion of 23 aberrant amino acids. (J:272861)