Mutagenetix > Incidental Mutation

Incidental Mutation 'R4702:Tbxas1'

397244

Institutional Source

Beutler Lab

Gene Symbol

Tbxas1

Ensembl Gene

ENSMUSG00000029925

Gene Name

thromboxane A synthase 1, platelet

Synonyms

TXS, CYP5, TXAS, CYP5A1

MMRRC Submission

041950-MU

Accession Numbers

Essential gene?

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

Stock #

R4702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38852338-39061519 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 39060791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003017] [ENSMUST00000038398]

AlphaFold

P36423

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000038398

SMART Domains

Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	17	32	N/A	INTRINSIC
low complexity region	51	83	N/A	INTRINSIC
ZnF_C3H1	99	127	2.79e1	SMART
ZnF_C3H1	186	210	1.36e-2	SMART
ZnF_C3H1	280	306	2.03e1	SMART
Pfam:WWE	385	468	1.3e-16	PFAM
Pfam:PARP	506	689	5.2e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161781

Meta Mutation Damage Score

0.9501

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,509 (GRCm39)	T390A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Adra1a	T	C	14: 66,875,008 (GRCm39)		probably benign	Het
Aff1	T	C	5: 103,958,935 (GRCm39)	Y343H	probably damaging	Het
Antxr2	C	T	5: 98,097,028 (GRCm39)		probably null	Het
Ap1m2	A	G	9: 21,209,591 (GRCm39)	F362L	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Armc3	A	G	2: 19,314,792 (GRCm39)	N822S	probably damaging	Het
Atr	A	C	9: 95,802,408 (GRCm39)	T1767P	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bloc1s1	T	A	10: 128,759,267 (GRCm39)	Q13L	probably damaging	Het
Blvra	A	C	2: 126,933,982 (GRCm39)	I125L	probably benign	Het
Caps2	T	C	10: 112,044,252 (GRCm39)	F484L	probably damaging	Het
Cep76	A	T	18: 67,767,968 (GRCm39)	I188K	possibly damaging	Het
Cidea	T	A	18: 67,500,498 (GRCm39)	F187I	probably benign	Het
Cntn3	T	A	6: 102,142,292 (GRCm39)	N1025I	probably benign	Het
Cntnap3	A	T	13: 64,926,676 (GRCm39)	C565S	probably benign	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Cyp2d26	C	T	15: 82,676,648 (GRCm39)		probably benign	Het
Cyp2j12	A	T	4: 96,021,230 (GRCm39)		probably null	Het
Dnajb13	T	C	7: 100,153,748 (GRCm39)	N229S	probably benign	Het
Dpys	A	G	15: 39,656,798 (GRCm39)	V423A	possibly damaging	Het
Eif4e1b	A	T	13: 54,935,138 (GRCm39)	I222F	probably damaging	Het
Eif5b	A	T	1: 38,057,958 (GRCm39)	N87Y	unknown	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epha7	T	A	4: 28,961,425 (GRCm39)	L890Q	probably damaging	Het
Fancm	T	A	12: 65,168,826 (GRCm39)	S1730T	possibly damaging	Het
Flrt3	A	G	2: 140,503,575 (GRCm39)	F18L	probably benign	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
H2-M10.4	A	G	17: 36,772,874 (GRCm39)	I36T	probably benign	Het
Igfn1	G	A	1: 135,894,947 (GRCm39)	S1873L	possibly damaging	Het
Ints12	A	T	3: 132,802,546 (GRCm39)	D10V	probably damaging	Het
Kbtbd2	A	G	6: 56,756,288 (GRCm39)	S483P	probably benign	Het
Kcnv2	G	C	19: 27,300,967 (GRCm39)	A273P	probably damaging	Het
Klc3	T	G	7: 19,129,756 (GRCm39)	D371A	probably damaging	Het
Lama3	T	A	18: 12,711,086 (GRCm39)	L1567*	probably null	Het
Ldhal6b	G	T	17: 5,468,582 (GRCm39)	H117Q	probably damaging	Het
Lrriq1	G	T	10: 103,051,610 (GRCm39)	Q381K	possibly damaging	Het
Mrps31	T	A	8: 22,909,754 (GRCm39)	L140Q	probably damaging	Het
Myo15b	A	G	11: 115,774,834 (GRCm39)	T2119A	probably benign	Het
Nkx6-2	T	C	7: 139,161,456 (GRCm39)	D243G	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Papln	C	T	12: 83,828,757 (GRCm39)	T821I	probably benign	Het
Pitpnb	T	G	5: 111,519,218 (GRCm39)	V166G	probably benign	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plcxd3	C	A	15: 4,405,269 (GRCm39)	S25R	probably benign	Het
Ppargc1a	T	C	5: 51,653,038 (GRCm39)	I175V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,799,715 (GRCm39)	Q687H	probably benign	Het
Prpf3	A	G	3: 95,741,404 (GRCm39)	V584A	probably damaging	Het
Psen2	A	G	1: 180,055,289 (GRCm39)	L399S	probably damaging	Het
Ptchd3	G	A	11: 121,727,235 (GRCm39)	V370I	probably damaging	Het
Rasa3	G	T	8: 13,620,394 (GRCm39)	D758E	probably benign	Het
Reck	T	C	4: 43,898,060 (GRCm39)	C113R	probably damaging	Het
Resf1	A	G	6: 149,230,901 (GRCm39)	T1316A	probably benign	Het
Ric1	T	A	19: 29,575,417 (GRCm39)	F1009I	possibly damaging	Het
Rrp12	T	C	19: 41,859,975 (GRCm39)	N1035S	probably damaging	Het
Rtel1	T	A	2: 180,993,962 (GRCm39)	S849T	probably benign	Het
Scn10a	A	T	9: 119,462,857 (GRCm39)	Y1060N	possibly damaging	Het
Selenov	A	G	7: 27,987,436 (GRCm39)	L314P	probably damaging	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc7a14	T	A	3: 31,284,547 (GRCm39)	Y263F	probably damaging	Het
Slco3a1	A	G	7: 73,970,315 (GRCm39)	S431P	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Spopl	A	T	2: 23,405,309 (GRCm39)		probably null	Het
Stk10	A	T	11: 32,505,172 (GRCm39)	T69S	probably benign	Het
Tec	G	A	5: 72,941,074 (GRCm39)	P161L	possibly damaging	Het
Tnip1	A	G	11: 54,815,228 (GRCm39)	S339P	probably benign	Het
Tsen34	T	A	7: 3,703,632 (GRCm39)	V290D	probably damaging	Het
Tuba1a	T	A	15: 98,849,563 (GRCm39)	I5F	possibly damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn1r63	T	C	7: 5,806,516 (GRCm39)	R39G	possibly damaging	Het
Xylt2	A	G	11: 94,560,355 (GRCm39)	Y307H	possibly damaging	Het
Zfp65	A	G	13: 67,872,341 (GRCm39)	M1T	probably null	Het
Zmym4	T	C	4: 126,816,958 (GRCm39)	I247V	probably benign	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
R1677:Tbxas1	UTSW	6	38,994,822 (GRCm39)	splice site	probably benign
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
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'- TGAGCAGGTATTTCAGGCC -3'
(R):5'- ACATGGGATTATTGGCCAGC -3'

Sequencing Primer
(F):5'- GGTATTTCAGGCCAACGATAACCTTC -3'
(R):5'- GGCCAGCACTTAATTTGAGC -3'

Posted On

2016-06-28