Allele/Variant

Washc4em1Ssod

Species
Mus musculus
Symbol
Washc4em1Ssod
Category
allele
Allele of gene
Washc4
Transgenic Constructs
None
Synonyms
  • SWIPP1019R
Description
Proline codon 1019 (CCT) in exon 29 was targeted for change to an arginine codon (CGT)(p.P1019R) with an sgRNA (targeting TTGAGAATACTCACAAGAGGAGG) and an ssODN template (ATTTCGAAGGCCAAAGAATATACATCTCCGAAATTTCTATATCATTGTTCGTCCTCTTGTGAGTATTCTCAAAACTAGAAGTGAGTTATTGATGGGTGTTAATACAGATTCAGTTTCCATAAAGCA) using CRISPR/Cas9 technology. The mutation mimics a mutation found in some human Wiskott–Aldrich syndrome patients.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000076.7:g.83424164C>G

Symbol
NC_000076.7:g.83424164C>G
Category
Variant
Variant type
point mutation
Overlaps
Washc4
Location
10:83424164
Nucleotide Change
C>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)10:83424164C>G
  • NC_000076.7:g.83424164C>G
HGVS.c name
  • ENSEMBL:ENSMUST00000038388.1:c.3056C>G
  • ENSEMBL:ENSMUST00000217842.1:c.*2498C>G
HGVS.p name
  • ENSEMBL:ENSMUSP00000039322:p.Pro1019Arg
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6783463
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
83.380M83.385M83.390M83.395M83.400M83.405M83.410M83.415M83.420M83.425M83.430M
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_000076.7:g.83424164C>G

Variant
NC_000076.7:g.83424164C>G
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
    abnormal excitatory synapse morphologyMGI
    abnormal gaitMGI
    abnormal lysosome morphologyMGI
    abnormal motor capabilities/coordination/movementMGI
    abnormal protein levelMGI
    fast extinction of fear memoryMGI
    impaired coordinationMGI
    impaired cued conditioning behaviorMGI
    impaired limb coordinationMGI
    increased neuron apoptosisMGI
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
    References
    is implicated inWiskott-Aldrich syndrome
    • TAS
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