ENU-induced G to T transversion at base pair 54,502,271 (v38) on chromosome 11, or base pair 64,127 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,650 in the mRNA sequence NM_173753 within exon 14 of 18 total exons. The mutation results in a glycine to valine substitution at position 511 (G511V) in the FNIP1 protein. (J:265134)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count