Clec4a1 - SNV Details



 Gene Information 
Gene Name Clec4a1
Gene Description C-type lectin domain family 4, member a1 [Source:MGI Symbol;Acc:MGI:3036291]
Uniprot Name
CCDS Name
Gene GO
cellular_component; carbohydrate binding; biological_process; molecular_function
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049037
Chromosome 6
Coordinate 122,930,721     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 180
Allele Frequency
T:R0.56
C:V0.43
Amino Acid Position 123
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01973
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000062441:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
C-type lectin fold C-type_lectin_fold IPR016187 ENSMUSP00000062441 Superfamily 114
242 Description available Search pathways
Type-2 ice-structuring protein AntifreezeII IPR002353 ENSMUSP00000062441 Prints 113
125 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000062441 Smart 114
239 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000062441 Prosite_profiles 121
239 Description available Search pathways

 Availability Details 
Availability Cryopreserved