Allele/Variant

Foxj1b2b774Clo

Species
Mus musculus
Symbol
Foxj1b2b774Clo
Category
allele
Allele of gene
Foxj1
Transgenic Constructs
None
Synonyms
  • Foxj1T425A
  • Tails
Description
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 425 in exon 2 of the cDNA (c.425T>A, NM_008240). This changes the isoleucine residue to asparagine at position 142 in the encoding protein (p.I142N).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000077.7:g.116224941A>T

Symbol
NC_000077.7:g.116224941A>T
Category
Variant
Variant type
point mutation
Overlaps
Foxj1
Location
11:116224941
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)11:116224941A>T
  • 11:g.116224941A>T
HGVS.c name
  • ENSEMBL:ENSMUST00000036215.1:c.425T>A
  • RefSeq:NM_008240.3:c.425T>A
HGVS.p name
  • ENSEMBL:ENSMUSP00000038351:p.Ile142Asn
  • RefSeq:NP_032266.3:p.Ile142Asn
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:5297425
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
116.2220M116.2225M116.2230M116.2235M116.2240M116.2245M116.2250M116.2255M116.2260M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_000077.7:g.116224941A>T

Variant
NC_000077.7:g.116224941A>T
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype
    Annotation details
    Source
    References
    heart left ventricle hypertrophy
    MGI
    heart right ventricle hypertrophy
    MGI
    heterotaxia
    MGI
    situs inversus totalis
    MGI
    Showing 1 - 4 of 4 rows
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    Disease Associations

    No data available