Thbs1 - SNV Details



 Gene Information 
Gene Name Thbs1
Old Gene Names for Thbs1 Thbs-1
Gene Description thrombospondin 1 [Source:MGI Symbol;Acc:MGI:98737]
Uniprot Name
CCDS Name
Gene GO
positive regulation of eukaryotic cell surface binding; integrin binding; negative regulation of endothelial cell proliferation; blood vessel morphogenesis; endocardial cushion development; activation of MAPK activity; negative regulation of blood vessel endothelial cell migration; extracellular matrix; positive regulation of blood coagulation; negative regulation of endothelial cell migration; positive regulation of fibroblast migration; negative regulation of plasma membrane long-chain fatty acid transport; positive regulation of macrophage activation; cell cycle arrest; chronic inflammatory response; positive regulation of protein kinase B signaling cascade; positive regulation of tumor necrosis factor biosynthetic process; cell adhesion; positive regulation of endothelial cell migration; negative regulation of apoptotic process; immune response; induction of apoptosis; collagen V binding; positive regulation of translation; peptide cross-linking; negative regulation of nitric oxide mediated signal transduction; positive regulation of cell-substrate adhesion; positive regulation of cell migration; external side of plasma membrane; protein binding; inflammatory response; positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of cell-matrix adhesion; platelet alpha granule; positive regulation of chemotaxis; response to magnesium ion; negative regulation of plasminogen activation; sprouting angiogenesis; cell migration; phosphatidylserine binding; positive regulation of phosphorylation; engulfment of apoptotic cell; response to drug; heparin binding; negative regulation of fibroblast growth factor receptor signaling pathway; fibronectin binding; negative regulation of dendritic cell antigen processing and presentation; positive regulation of angiogenesis; extracellular region; outflow tract morphogenesis; laminin binding; eukaryotic cell surface binding; fibrinogen complex; positive regulation of reactive oxygen species metabolic process; response to calcium ion; response to glucose stimulus; low-density lipoprotein particle binding; secretory granule; negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; negative regulation of fibrinolysis; negative regulation of interleukin-12 production; fibroblast growth factor binding; extracellular matrix binding; negative regulation of cGMP-mediated signaling; calcium ion binding; negative regulation of angiogenesis; fibrinogen binding; extracellular space; positive regulation of blood vessel endothelial cell migration; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; growth plate cartilage development
Homolog in other species THBS1
Omim http://omim.org/entry/188060
Immgen Expression
LOW(HIGH IN GN.BM, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
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 ENSMUSG00000040152
Chromosome 2
Coordinate 118,114,970     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 310
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02411
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.63
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved