ENU-induced T to C transition at base pair 34,229,472 (v38) on chromosome 11, or base pair 554,438 in the GenBank genomic region NC_000077 for the gene within the donor splice site of intron 50. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 121-nucleotide exon 50 (out of 52 total exons), resulting in a frame-shifted protein product beginning after amino acid 1,720 in the coded protein and premature termination after the inclusion of 20 aberrant amino acids. (J:255181)