C1qtnf3 - SNV Details



 Gene Information 
Gene Name C1qtnf3
Old Gene Names for C1qtnf3 2310005p21rik , Ai315029
Gene Description C1q and tumor necrosis factor related protein 3 [Source:MGI Symbol;Acc:MGI:1932136]
Uniprot Name
CCDS Name
Gene GO
negative regulation of gene expression; negative regulation of interleukin-6 secretion; positive regulation of protein kinase B signaling cascade; negative regulation of inflammatory response; protein oligomerization; negative regulation of monocyte chemotactic protein-1 production; cellular triglyceride homeostasis; protein binding; fat cell differentiation; negative regulation of gluconeogenesis; positive regulation of ERK1 and ERK2 cascade; collagen; extracellular region; identical protein binding; positive regulation of cytokine secretion; negative regulation of NF-kappaB import into nucleus; protein trimerization; positive regulation of adiponectin secretion; glucose homeostasis; extracellular space
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058914
Chromosome 15
Coordinate 10,960,682     (Assembly: GRCm38)    
Ref Base G
Codon Change gGt/gAt
Var Base A
Zygosity Heterozygous
Read Depth 28
Allele Frequency
G:R0.68
A:V0.32
Amino Acid Position 84
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL01361
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

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

 Protein domains 
ENSMUSP00000022853:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Collagen triple helix repeat Collagen IPR008160 ENSMUSP00000022853 Pfam 54
108 Description available Search pathways

 Availability Details 
Availability Cryopreserved