|Institutional Source||Beutler Lab|
|Gene Name||thrombospondin 1|
|Synonyms||TSP-1, TSP1, tbsp1, Thbs-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7320 (G1)|
|Chromosomal Location||118111876-118127133 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 118114957 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 306 (N306D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044903 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039559]|
|Predicted Effect||possibly damaging
AA Change: N306D
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: N306D
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice show partial prenatal lethality, lordosis, kyphosis, leukocytosis, multiorgan inflammation, lung hemorrhage, pneumonia, resistance to radiation and ischemic injury, altered blood pressure and vasoactive stress responses, eye pathology, and corneal and lacrimal gland dysfunction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Thbs1||
(F):5'- ATGAACTATCCAGCATGGTCCTG -3'
(R):5'- TCACTTTGGTAGCAGGCCAG -3'
(F):5'- CAGCATGGTCCTGGAACTG -3'
(R):5'- TTTGGTAGCAGGCCAGAGCAC -3'