Allele/Variant

Tlr9m4Btlr

Species
Mus musculus
Symbol
Tlr9m4Btlr
Category
allele
Allele of gene
Tlr9
Transgenic Constructs
None
Synonyms
  • CpG5
  • Tlr9CpG5
Description
The mutant phenotype, discovered in an ENU mutagenesis screen for impaired response of peritoneal macrophages to Toll-like receptor (TLR) ligands, is due to a T-to-C transition at nucleotide position 1284 (Genbank Accession NM_031178) in the second of two exons. It results in replacement of leucine by proline at amino acid position 393 (L393P), the initial leucine in the fourteenth extracellular leucine-rich repeat of the receptor's ectodomain.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000075.7:g.106101888T>C

Symbol
NC_000075.7:g.106101888T>C
Category
Variant
Variant type
point mutation
Overlaps
Tlr9
Location
9:106101888
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)9:106101888T>C
  • NC_000075.7:g.106101888T>C
HGVS.c name
  • ENSEMBL:ENSMUST00000062241.1:c.1178T>C
  • RefSeq:NM_031178.2:c.1178T>C
HGVS.p name
  • ENSEMBL:ENSMUSP00000082207:p.Leu393Pro
  • RefSeq:NP_112455.2:p.Leu393Pro
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:3774140
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
106.1000M106.1005M106.1010M106.1015M106.1020M106.1025M106.1030M106.1035M106.1040M
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_000075.7:g.106101888T>C

Variant
NC_000075.7:g.106101888T>C
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 macrophage physiology
    MGI
    abnormal plasmacytoid dendritic cell physiology
    MGI
    decreased B cell proliferation
    MGI
    Showing 1 - 3 of 3 rows
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    Disease Associations

    No data available