Cd1d1 - SNV Details



 Gene Information 
Gene Name Cd1d1
Old Gene Names for Cd1d1 Ai747460 , Cd1a , Cd1d
Gene Description CD1d1 antigen [Source:MGI Symbol;Acc:MGI:107674]
MGI phenotype Homozygotes for targeted null mutations lack natural killer T cells, and mutant splenocytes fail to produce interleukin 4 (IL4).
Uniprot Name
CCDS Name
Gene GO
early endosome; endosome membrane; positive regulation of macrophage activation; integral to membrane; lysosomal membrane; positive regulation of T cell mediated cytotoxicity; positive regulation of interleukin-2 biosynthetic process; positive regulation of NK T cell activation; immune response; antigen processing and presentation; endogenous lipid antigen binding; lysosome; external side of plasma membrane; protein binding; regulation of immune response; positive regulation of NK T cell differentiation; positive regulation of interferon-gamma biosynthetic process; innate immune response; antigen processing and presentation
exogenous lipid antigen via MHC class Ib; late endosome; positive thymic T cell selection; positive regulation of interleukin-4 biosynthetic process; T cell receptor binding
Homolog in other species CD1D
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028076
Chromosome 3
Coordinate 86,998,881     (Assembly: GRCm38)    
Ref Base C
Codon Change cGc/cTc
Var Base A
Zygosity Heterozygous
Read Depth 38
Allele Frequency
C:R0.58
A:V0.42
Amino Acid Position 29
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL02371
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Probably damaging
Sift Score 0.08
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved