ENU-induced T to C transition at base pair 30,761,490 (v38) on chromosome 13, or base pair 12,283 in the GenBank genomic region NC_000079 within the donor splice site of intron 8. The effect of the mutation at the cDNA and protein level has not examined. The mutation is judged unlikely to disrupt the splice donor site of intron 8 by splice prediction programs. In the case that this mutation affects splicing, a cryptic splice site in exon 8 might be used, resulting in a transcript that has a 50 base-pair deletion in exon 8 (out of 9 total exons). The mutation would lead to a frame-shifted protein product beginning after amino acid 388 of the protein, followed by premature termination after the inclusion of 26 aberrant amino acids.