ENU-induced a C to T transition at base pair 59378630 (v37) on Chromosome 11 in the GenBank genomic region NC_000077. The mutation corresponds to residue 2749 in the cDNA (ENSMUST00000079476) in exon 9 of 11. The mutation causes an arginine to a premature stop codon change in the protein at residue 917 of the protein. (J:192651)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count