C1qtnf2 - SNV Details



 Gene Information 
Gene Name C1qtnf2
Old Gene Names for C1qtnf2 1810033k05rik
Gene Description C1q and tumor necrosis factor related protein 2 [Source:MGI Symbol;Acc:MGI:1916433]
Uniprot Name
CCDS Name
Gene GO
activation of MAPK activity; positive regulation of fatty acid oxidation; protein binding; positive regulation of glucose import; collagen; protein homooligomerization; protein heterotrimerization; identical protein binding; receptor binding; protein trimerization; positive regulation of glycogen biosynthetic process; extracellular space
Homolog in other species C1QTNF2
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000046491
Chromosome 11
Coordinate 43,485,999     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gAg
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.67
A:V0.33
Amino Acid Position 66
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL00266
Median Base Quality 34
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 1 Other Mutations

 Predictions 
Polyphen Score 0.24
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000051652:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Collagen triple helix repeat Collagen IPR008160 ENSMUSP00000051652 Pfam 48
104 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved