ENU mutagenesis induced a T to A transversion at base pair 34,223,795 (v38) on chromosome 1, or base pair 315,589 in the GenBank genomic region NC_000067 affecting the acceptor splice site of intron 54 in the longest isoform (NM_134448). The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 200-base pair exon 55 (out of 98 total exons) causing a frame-shift, coding of 13 aberrant amino acids followed by a premature stop codon after amino acid 4,546. (J:218968)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count