Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Tbxas1'

188179

Institutional Source

Beutler Lab

Gene Symbol

Tbxas1

Ensembl Gene

ENSMUSG00000029925

Gene Name

thromboxane A synthase 1, platelet

Synonyms

TXS, CYP5, TXAS, CYP5A1

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38852338-39061519 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 38994822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003017]

AlphaFold

P36423

Predicted Effect

probably benign
Transcript: ENSMUST00000003017

SMART Domains

Protein: ENSMUSP00000003017
Gene: ENSMUSG00000029925

Domain	Start	End	E-Value	Type
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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	probably damaging	Het

Other mutations in Tbxas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Tbxas1	APN	6	38,998,115 (GRCm39)	missense	probably damaging	0.97
IGL01319:Tbxas1	APN	6	38,994,907 (GRCm39)	missense	probably benign	0.09
IGL01633:Tbxas1	APN	6	38,959,125 (GRCm39)	missense	probably benign	0.00
IGL01712:Tbxas1	APN	6	39,057,994 (GRCm39)	missense	probably benign	0.00
IGL01860:Tbxas1	APN	6	38,925,561 (GRCm39)	missense	probably damaging	1.00
IGL01964:Tbxas1	APN	6	39,060,748 (GRCm39)	missense	probably benign	0.00
IGL02036:Tbxas1	APN	6	38,998,091 (GRCm39)	missense	probably benign
IGL02335:Tbxas1	APN	6	39,000,014 (GRCm39)	missense	probably damaging	1.00
IGL02615:Tbxas1	APN	6	39,004,800 (GRCm39)	missense	probably damaging	1.00
R0245:Tbxas1	UTSW	6	39,004,702 (GRCm39)	missense	probably benign	0.00
R1975:Tbxas1	UTSW	6	38,925,575 (GRCm39)	splice site	probably benign
R1977:Tbxas1	UTSW	6	38,925,575 (GRCm39)	splice site	probably benign
R2308:Tbxas1	UTSW	6	39,004,595 (GRCm39)	missense	probably benign	0.08
R4394:Tbxas1	UTSW	6	39,004,713 (GRCm39)	missense	probably benign	0.19
R4702:Tbxas1	UTSW	6	39,060,791 (GRCm39)	critical splice donor site	probably null
R4703:Tbxas1	UTSW	6	39,060,791 (GRCm39)	critical splice donor site	probably null
R4705:Tbxas1	UTSW	6	39,060,791 (GRCm39)	critical splice donor site	probably null
R4935:Tbxas1	UTSW	6	38,999,981 (GRCm39)	missense	probably benign	0.02
R5424:Tbxas1	UTSW	6	39,004,839 (GRCm39)	missense	possibly damaging	0.72
R5704:Tbxas1	UTSW	6	38,998,067 (GRCm39)	missense	probably benign	0.20
R6358:Tbxas1	UTSW	6	38,929,046 (GRCm39)	intron	probably benign
R6455:Tbxas1	UTSW	6	38,929,079 (GRCm39)	intron	probably benign
R6823:Tbxas1	UTSW	6	38,896,087 (GRCm39)	start codon destroyed	possibly damaging	0.94
R6868:Tbxas1	UTSW	6	39,061,240 (GRCm39)	missense	probably damaging	1.00
R6888:Tbxas1	UTSW	6	38,929,008 (GRCm39)	intron	probably benign
R7500:Tbxas1	UTSW	6	38,959,146 (GRCm39)	nonsense	probably null
R8026:Tbxas1	UTSW	6	39,004,830 (GRCm39)	missense	probably benign	0.12
R8351:Tbxas1	UTSW	6	39,004,850 (GRCm39)	missense	possibly damaging	0.67
R8729:Tbxas1	UTSW	6	38,978,272 (GRCm39)	missense	probably benign	0.33
R8837:Tbxas1	UTSW	6	39,048,364 (GRCm39)	missense
R9161:Tbxas1	UTSW	6	38,999,989 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbxas1	UTSW	6	38,998,038 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCTAATGCTCACCACACGCC -3'
(R):5'- TGCTGTCGCAAGGATCATCCAC -3'

Sequencing Primer
(F):5'- GCCAAGCACCGATTTGAAG -3'
(R):5'- GGATCATCCACTCAGAATTGTGAC -3'

Posted On

2014-05-09