Log In|Sign Up
EN
ENU mutagenesis induced a T to A transversion at base pair 34,212,354 (v38) on chromosome 17, or base pair 8,270 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,418 in the mRNA sequence NM_011530 within exon 7 of 12 total exons. The mutation results in a valine (V) to aspartic acid (D) substitution at position 422 (V422D), and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.989). (J:217145)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
