Clec7a - SNV Details



 Gene Information 
Gene Name Clec7a
Old Gene Names for Clec7a Clecsf12
Gene Description C-type lectin domain family 7, member a [Source:MGI Symbol;Acc:MGI:1861431]
MGI phenotype Mutations in this gene result in increased susceptibility and defective inflammatory responses in response to fungal infection.
Uniprot Name
CCDS Name
Gene GO
opsonin binding; response to yeast; phagocytosis
recognition; integral to membrane; metal ion binding; phagocytosis
engulfment; cellular response to molecule of fungal origin; (1->3)-beta-D-glucan receptor activity; external side of plasma membrane; protein binding; cell-cell adhesion; inflammatory response; detection of yeast; response to molecule of fungal origin; carbohydrate binding; polysaccharide binding; innate immune response; positive regulation of tumor necrosis factor production; cell surface pattern recognition receptor signaling pathway; (1->3)-beta-D-glucan binding; positive regulation of phagocytosis; leukocyte activation involved in immune response
Homolog in other species CLEC7A
Omim http://omim.org/entry/606264
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC GROUP, TGD.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000079293
Chromosome 6
Coordinate 129,465,486     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgg/Agg
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Position 193
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL01339
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved