ENU-induced G to A transition at base pair 138,101,041 (v38) on chromosome 1, or base pair 74,716 in the GenBank genomic region NC_000067 within the donor splice site of intron 13. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 156-nucleotide exon 13 (out of 33 total exons), resulting in an in-frame deletion of 52 amino acids (amino acids 421 to 472) of the protein (which is normally 1,293 amino acids long). (J:264808)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count