ENU-induced A to G transition at base pair 36,770,811 (v38) on chromosome 1, or base pair 9,014 in the GenBank genomic region NC_000067. The mutation corresponds to residue 155 in the mRNA sequence NM_009539 within exon 2 of 13 total exons, residue 198 in the mRNA sequence NM_001289765 within exon 2 of 13, and residue 163 in the mRNA sequence NM_001289766 within exon 2 of 13 total exons. The mutation is not predicted to affect transcript variant 2 (NM_001289612), because this transcript encodes an isoform, TZK (alternatively, truncated ZAP kinase) with a shorter N-terminus compared to the other isoforms. The mutated nucleotide is indicated in red. The mutation results in a methionine (M) to valine (V) substitution at position 1 (M1V) in the protein. (J:236698)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
6
--

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:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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