ENU-induced A to T transversion at base pair 83,069,564 (v38) on chromosome 11, or base pair 4,453 in the GenBank genomic region NC_000077 for the Slfn2 gene. The mutation corresponds to residue 550 in the mRNA sequence NM_0011408 within exon 2 of 2 total exons. The mutation results in a histidine (H) to leucine (L) substitution at position 123 (H123L) in the protein. (J:234262)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count