Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Tbxas1'

662640

Institutional Source

Beutler Lab

Gene Symbol

Tbxas1

Ensembl Gene

ENSMUSG00000029925

Gene Name

thromboxane A synthase 1, platelet

Synonyms

TXS, CYP5, TXAS, CYP5A1

MMRRC Submission

068577-MU

Accession Numbers

Essential gene?

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

Stock #

R8729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38852338-39061519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38978272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 140 (M140I)

Ref Sequence

ENSEMBL: ENSMUSP00000003017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003017] [ENSMUST00000160963]

AlphaFold

P36423

Predicted Effect

probably benign
Transcript: ENSMUST00000003017
AA Change: M140I

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003017
Gene: ENSMUSG00000029925
AA Change: M140I

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: ENSMUST00000160963
AA Change: M126I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124640
Gene: ENSMUSG00000029925
AA Change: M126I

Domain	Start	End	E-Value	Type
Pfam:p450	30	134	3.6e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,176 (GRCm39)	Y148*	probably null	Het
Ank3	A	G	10: 69,838,428 (GRCm39)	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,443,452 (GRCm39)	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,827,803 (GRCm39)	Y391H	probably benign	Het
Calcb	A	C	7: 114,319,428 (GRCm39)	E70A	probably benign	Het
Ccr1	T	C	9: 123,763,831 (GRCm39)	K233R	probably benign	Het
Ccz1	T	C	5: 143,948,310 (GRCm39)	D115G	probably damaging	Het
Col14a1	T	A	15: 55,310,893 (GRCm39)	L1203*	probably null	Het
Csmd2	G	A	4: 128,356,638 (GRCm39)	D1648N		Het
Csn1s1	T	C	5: 87,824,998 (GRCm39)		probably null	Het
Depp1	C	A	6: 116,628,762 (GRCm39)	P35H	probably damaging	Het
Eif2ak3	C	A	6: 70,821,864 (GRCm39)	P52Q	probably benign	Het
Galnt18	T	C	7: 111,119,198 (GRCm39)	E441G	probably null	Het
Gpat2	C	A	2: 127,275,739 (GRCm39)	Q506K	probably damaging	Het
Gramd1a	C	A	7: 30,843,248 (GRCm39)	R20L	possibly damaging	Het
Helz	G	T	11: 107,528,754 (GRCm39)		probably null	Het
Hif1a	A	G	12: 73,990,902 (GRCm39)	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,160,252 (GRCm39)	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,601,337 (GRCm39)	K331R	probably benign	Het
Klk1b4	T	A	7: 43,856,884 (GRCm39)	F3I	probably damaging	Het
Krt78	T	G	15: 101,855,455 (GRCm39)	Q785H	probably damaging	Het
Lsm11	C	T	11: 45,835,727 (GRCm39)	E5K	possibly damaging	Het
Luzp2	A	G	7: 54,816,985 (GRCm39)	K145R	probably damaging	Het
Man2b2	T	C	5: 36,973,462 (GRCm39)	T506A	probably benign	Het
Msrb3	A	C	10: 120,687,974 (GRCm39)	C34G	probably null	Het
Muc16	T	C	9: 18,571,346 (GRCm39)	D391G	unknown	Het
Mybpc2	C	T	7: 44,155,611 (GRCm39)	V881M	probably damaging	Het
Myh15	A	G	16: 48,881,851 (GRCm39)	K31R	probably damaging	Het
Ndnf	A	T	6: 65,680,758 (GRCm39)	K346*	probably null	Het
Nfs1	G	A	2: 155,965,727 (GRCm39)	T118I	probably benign	Het
Niban2	T	A	2: 32,799,946 (GRCm39)	L91Q	probably damaging	Het
Nlrp9c	T	G	7: 26,071,428 (GRCm39)	K893N	probably benign	Het
Nmd3	A	T	3: 69,655,682 (GRCm39)	K454N	possibly damaging	Het
Or5ae1	T	C	7: 84,565,523 (GRCm39)	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,535,639 (GRCm39)	D544E	possibly damaging	Het
Pck1	A	G	2: 172,997,866 (GRCm39)	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,566,354 (GRCm39)	V522I	probably benign	Het
Polr3c	C	T	3: 96,634,796 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,583,052 (GRCm39)	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,566,927 (GRCm39)	S59P	probably benign	Het
Rxfp4	T	A	3: 88,559,305 (GRCm39)	N382I	unknown	Het
Sirt1	A	G	10: 63,156,705 (GRCm39)	F642L	probably damaging	Het
Sp2	T	C	11: 96,852,099 (GRCm39)	D275G	possibly damaging	Het
Speer4a3	A	G	5: 26,158,178 (GRCm39)	V58A	probably damaging	Het
Srp72	C	T	5: 77,142,005 (GRCm39)	T414I	probably benign	Het
Syne1	T	A	10: 5,179,275 (GRCm39)	M4400L	probably benign	Het
Tbx15	A	T	3: 99,220,376 (GRCm39)	H156L	possibly damaging	Het
Tcof1	G	T	18: 60,962,145 (GRCm39)	P695T	unknown	Het
Tmprss9	A	T	10: 80,726,177 (GRCm39)	M476L	probably benign	Het
Trat1	A	T	16: 48,562,591 (GRCm39)	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,276,587 (GRCm39)	E856V	probably benign	Het
Ttc28	T	A	5: 111,383,509 (GRCm39)		probably null	Het
Ttn	AC	A	2: 76,749,528 (GRCm39)		probably null	Het
Twf1	T	C	15: 94,479,212 (GRCm39)	N216D	probably benign	Het
Unc80	C	A	1: 66,647,649 (GRCm39)	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,481,875 (GRCm39)	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,767,239 (GRCm39)	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,157,071 (GRCm39)	N524K	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
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
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'- GTCATTGGTGGACTTTAACAGGAG -3'
(R):5'- CTGTGTAATGATGAGGCCGAG -3'

Sequencing Primer
(F):5'- CACTGGCCTAGGGAATAGTGCTAC -3'
(R):5'- TGGTCTAGCTCTTTGCCA -3'

Posted On

2021-03-08