ENU mutagenesis induced an A to G transition at base pair 28,782,011 (v38) on chromosome 10, or base pair 113,685 in the GenBank genomic region NC_000076. The mutation results in an arginine (R) to glycine (G) substitution at position 345 (R345G) and is strongly predicted by Polyphen-2 to cause loss of function (score = 1.00). (J:211400)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count