ENU treatment induced a T-to-C transition at base pair 56,779,090 (GRCm38) on chromosome 6, equivalent to base pair 19,186 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,303 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 554 (p.Y554H) in the protein. (J:236667)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count