ENU-induced A to G transition at base pair 55,931,432 (v38) on chromosome 19, or base pair 189,648 in the GenBank genomic region NC_000085 within the acceptor splice site of intron 14. The effects of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in use of a cryptic site in intron 13. Use of the cryptic splice site would result in a transcript with a 24-base pair insertion of intron 13. The insertion would cause a frame-shifted protein product beginning after amino acid 422 of the protein, and subsequent termination after the inclusion of 148 aberrant amino acids. (J:267536)