ENU-induced G to A transition at base pair 101,765,152 (v38) on chromosome 4, or base pair 48,019 in the GenBank genomic region NC_000070 within the donor splice site on intron 8 of the gene. 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 291-nucleotide exon 8 (out of 19 total exons), resulting in an in-frame deletion of 97 amino acids beginning after amino acid 329 of the encoded protein. (J:236685)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count