Allele/Variant

Nle1l11Jus4

Species
Mus musculus
Symbol
Nle1l11Jus4
Category
allele
Allele of gene
Nle1
Transgenic Constructs
None
Synonyms
  • l11Jus04
Description
This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. The molecular lesion is a c.487T>C transition mutation (p.S163P change in the encoded protein) in exon 5 for the l11Jus4 allele. This non-conservative amino acid substitution has a high probability to alter protein function, as serines easily form hydrogen bonds with polar substrates, while prolines are rarely found in active sites. In addition, an endogenous C57BL/6J non-synonymous SNP rs13468707 (c.538A>G transition; p.I180V) is present in exon 6. This is the equivalent of well-documented human SNP rs2820949 and leads to a very conservative amino acid substitution. Thus, l11Jus4 homozygotes harbor two coding changes in this gene: an ENU-induced point mutation and an additional spontaneous missense mutation that is also present in the C57BL/6J parent strain.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000077.7:g.82796383A>G

Symbol
NC_000077.7:g.82796383A>G
Category
Variant
Variant type
point mutation
Overlaps
Nle1
Location
11:82796383
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)11:82796383A>G
  • NC_000077.7:g.82796383A>G
HGVS.c name
  • ENSEMBL:ENSMUST00000103213.1:c.487T>C
  • ENSEMBL:ENSMUST00000126202.1:c.*183T>C
HGVS.p name
  • ENSEMBL:ENSMUSP00000099502:p.Ser163Pro
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:2671874
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
82.792M82.793M82.794M82.795M82.796M82.797M82.798M82.799M
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.82796383A>G

Variant
NC_000077.7:g.82796383A>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
    embryonic lethality between implantation and somite formation, complete penetrance
    MGI
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    Disease Associations

    No data available