Incidental Mutation 'IGL01319:Tbxas1'
ID73978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbxas1
Ensembl Gene ENSMUSG00000029925
Gene Namethromboxane A synthase 1, platelet
SynonymsTXAS, TXS, CYP5A1, CYP5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01319
Quality Score
Status
Chromosome6
Chromosomal Location38875404-39084585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39017973 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 178 (I178V)
Ref Sequence ENSEMBL: ENSMUSP00000003017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003017]
Predicted Effect probably benign
Transcript: ENSMUST00000003017
AA Change: I178V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003017
Gene: ENSMUSG00000029925
AA Change: I178V

DomainStartEndE-ValueType
low complexity region 16 28 N/A INTRINSIC
Pfam:p450 44 530 1.5e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161781
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Tbxas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Tbxas1 APN 6 39021181 missense probably damaging 0.97
IGL01633:Tbxas1 APN 6 38982191 missense probably benign 0.00
IGL01712:Tbxas1 APN 6 39081060 missense probably benign 0.00
IGL01860:Tbxas1 APN 6 38948627 missense probably damaging 1.00
IGL01964:Tbxas1 APN 6 39083814 missense probably benign 0.00
IGL02036:Tbxas1 APN 6 39021157 missense probably benign
IGL02335:Tbxas1 APN 6 39023080 missense probably damaging 1.00
IGL02615:Tbxas1 APN 6 39027866 missense probably damaging 1.00
R0245:Tbxas1 UTSW 6 39027768 missense probably benign 0.00
R1677:Tbxas1 UTSW 6 39017888 splice site probably benign
R1975:Tbxas1 UTSW 6 38948641 splice site probably benign
R1977:Tbxas1 UTSW 6 38948641 splice site probably benign
R2308:Tbxas1 UTSW 6 39027661 missense probably benign 0.08
R4394:Tbxas1 UTSW 6 39027779 missense probably benign 0.19
R4702:Tbxas1 UTSW 6 39083857 critical splice donor site probably null
R4703:Tbxas1 UTSW 6 39083857 critical splice donor site probably null
R4705:Tbxas1 UTSW 6 39083857 critical splice donor site probably null
R4935:Tbxas1 UTSW 6 39023047 missense probably benign 0.02
R5424:Tbxas1 UTSW 6 39027905 missense possibly damaging 0.72
R5704:Tbxas1 UTSW 6 39021133 missense probably benign 0.20
R6358:Tbxas1 UTSW 6 38952112 intron probably benign
R6455:Tbxas1 UTSW 6 38952145 intron probably benign
R6823:Tbxas1 UTSW 6 38919153 start codon destroyed possibly damaging 0.94
R6868:Tbxas1 UTSW 6 39084306 missense probably damaging 1.00
R6888:Tbxas1 UTSW 6 38952074 intron probably benign
R7500:Tbxas1 UTSW 6 38982212 nonsense probably null
R8026:Tbxas1 UTSW 6 39027896 missense probably benign 0.12
R8351:Tbxas1 UTSW 6 39027916 missense possibly damaging 0.67
Z1177:Tbxas1 UTSW 6 39021104 missense probably damaging 0.99
Posted On2013-10-07