|Institutional Source||Beutler Lab|
|Gene Name||thromboxane A synthase 1, platelet|
|Synonyms||TXAS, TXS, CYP5A1, CYP5|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R8026 (G1)|
|Chromosomal Location||38875404-39084585 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 39027896 bp|
|Amino Acid Change||Threonine to Isoleucine at position 359 (T359I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003017 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003017]|
|Predicted Effect||probably benign
AA Change: T359I
PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: T359I
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null mice display increased bleeding time and decreased platelet response to arachidonic acid. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbxas1||
(F):5'- ATGGTCCCAGAATCCCTGTC -3'
(R):5'- TTTACTTGCTTGCCCAGAGAGC -3'
(F):5'- GTCCTCTTCTGAGTGCACAAAGG -3'
(R):5'- TTGCTTGCCCAGAGAGCTAGAG -3'