Clec1b - SNV Details



 Gene Information 
Gene Name Clec1b
Old Gene Names for Clec1b 1810061i13rik , Ai465458 , Clec2
Gene Description C-type lectin domain family 1, member b [Source:MGI Symbol;Acc:MGI:1913287]
MGI phenotype Mice homozygous for a knock-out allele exhibit congestion and hemorrhages during embryogenesis with prenatal and postnatal lethality. Mice homozygous for another knock-out allele exhibit blood-lymph mixing, impaired PDPN-Fc-mediated platelet activation, and intestinal edema.
Uniprot Name
CCDS Name
Gene GO
transmembrane signaling receptor activity; integral to plasma membrane; protein binding; carbohydrate binding; cell surface receptor signaling pathway
Homolog in other species CLEC1B
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
LOW/MEDIAN(HIGH IN IMM.G2)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030159
Chromosome 6
Coordinate 129,403,562     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.32
G:V0.68
Amino Acid Position 147
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01785
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign
Sift Score 0.22
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000032262:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000032262 Prosite_profiles 109
217 Description available Search pathways
C-type lectin fold C-type_lectin_fold IPR016187 ENSMUSP00000032262 Superfamily 86
225 Description available Search pathways
Herpesvirus UL45-like Herpes_UL45-like IPR008646 ENSMUSP00000032262 Pfam 99
219 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000032262 Pfam 121
217 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000032262 Smart 102
217 Description available Search pathways

 Availability Details 
Availability Cryopreserved