Mutagenetix > Incidental Mutation

Incidental Mutation 'R4935:Tbxas1'

380299

Institutional Source

Beutler Lab

Gene Symbol

Tbxas1

Ensembl Gene

ENSMUSG00000029925

Gene Name

thromboxane A synthase 1, platelet

Synonyms

TXS, CYP5, TXAS, CYP5A1

MMRRC Submission

042535-MU

Accession Numbers

Essential gene?

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

Stock #

R4935 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38852338-39061519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38999981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 256 (N256I)

Ref Sequence

ENSEMBL: ENSMUSP00000003017 (fasta)

Gene Model

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

AlphaFold

P36423

Predicted Effect

probably benign
Transcript: ENSMUST00000003017
AA Change: N256I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000003017
Gene: ENSMUSG00000029925
AA Change: N256I

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: ENSMUST00000159226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161781

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 86.9%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	G	11: 6,150,442 (GRCm39)	*138W	probably null	Het
Abcb1a	T	A	5: 8,787,773 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,079,060 (GRCm39)		probably null	Het
Adcyap1	A	T	17: 93,511,541 (GRCm39)	I172L	probably benign	Het
Adgrf1	A	C	17: 43,606,130 (GRCm39)	I85L	probably benign	Het
Afdn	A	T	17: 14,111,228 (GRCm39)	T1604S	probably benign	Het
Angpt2	T	C	8: 18,742,131 (GRCm39)	Y475C	probably damaging	Het
Ank2	A	G	3: 126,749,713 (GRCm39)	S439P	probably damaging	Het
Ank3	T	A	10: 69,812,033 (GRCm39)	N366K	probably damaging	Het
Ankrd11	A	G	8: 123,626,922 (GRCm39)	S87P	probably benign	Het
Ano7	T	A	1: 93,323,036 (GRCm39)	S459T	possibly damaging	Het
Asxl3	G	A	18: 22,656,369 (GRCm39)	V1460M	probably benign	Het
Atg16l1	A	C	1: 87,694,764 (GRCm39)	N147T	possibly damaging	Het
Atp10a	T	C	7: 58,463,512 (GRCm39)	V1015A	probably damaging	Het
Atxn7	T	A	14: 14,100,401 (GRCm38)	S696T	probably benign	Het
Babam1	C	T	8: 71,852,446 (GRCm39)	T184I	probably benign	Het
Blk	A	G	14: 63,618,711 (GRCm39)	S175P	possibly damaging	Het
Col5a1	T	A	2: 27,914,754 (GRCm39)	F123L	probably damaging	Het
Csmd3	T	C	15: 48,024,480 (GRCm39)	Y496C	probably damaging	Het
Dnah3	A	T	7: 119,615,700 (GRCm39)	Y1676*	probably null	Het
Fdxacb1	T	A	9: 50,683,243 (GRCm39)	M402K	probably benign	Het
Frmd5	A	G	2: 121,393,405 (GRCm39)	V141A	possibly damaging	Het
Gapvd1	G	A	2: 34,594,504 (GRCm39)	R685*	probably null	Het
Grik2	A	G	10: 49,116,826 (GRCm39)	L645P	probably damaging	Het
H2aj	T	A	6: 136,785,681 (GRCm39)	V115E	possibly damaging	Het
Hrh3	T	C	2: 179,743,061 (GRCm39)	Y189C	probably damaging	Het
Kcnc2	A	G	10: 112,108,133 (GRCm39)	T175A	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kif24	T	C	4: 41,394,939 (GRCm39)	R645G	probably damaging	Het
Knl1	A	G	2: 118,899,438 (GRCm39)	I380V	possibly damaging	Het
Lamb2	A	G	9: 108,364,700 (GRCm39)	I1151M	possibly damaging	Het
Leo1	A	G	9: 75,353,159 (GRCm39)	D234G	probably benign	Het
Lrp1b	T	G	2: 41,388,405 (GRCm39)	N407H	probably benign	Het
Matn2	T	C	15: 34,428,831 (GRCm39)	S732P	probably damaging	Het
Mrps30	A	T	13: 118,523,431 (GRCm39)	F114I	possibly damaging	Het
Or1l8	T	C	2: 36,817,713 (GRCm39)	N138D	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,793 (GRCm39)	V45I	probably damaging	Het
Or5b123	T	C	19: 13,597,066 (GRCm39)	I180T	probably benign	Het
Oxr1	T	C	15: 41,676,980 (GRCm39)	V179A	probably benign	Het
Plaur	A	T	7: 24,166,141 (GRCm39)	S71C	possibly damaging	Het
Plbd2	T	C	5: 120,624,786 (GRCm39)	N461D	possibly damaging	Het
Plcb2	T	A	2: 118,549,396 (GRCm39)	Y322F	probably damaging	Het
Prkab2	T	C	3: 97,569,671 (GRCm39)	V79A	probably damaging	Het
Ptpn3	A	T	4: 57,197,568 (GRCm39)	C774S	probably damaging	Het
Ring1	A	C	17: 34,242,016 (GRCm39)	L131R	probably benign	Het
Rxfp2	G	A	5: 149,975,097 (GRCm39)		probably null	Het
Selenbp1	A	T	3: 94,845,269 (GRCm39)	I122F	probably benign	Het
Septin7	A	G	9: 25,217,468 (GRCm39)	H394R	probably benign	Het
Slc1a7	G	A	4: 107,864,758 (GRCm39)	V266I	probably damaging	Het
Slc2a10	A	G	2: 165,359,578 (GRCm39)	T481A	probably benign	Het
Spmap2l	T	C	5: 77,185,200 (GRCm39)		probably null	Het
Tapbp	A	G	17: 34,144,596 (GRCm39)	M231V	probably benign	Het
Uimc1	A	G	13: 55,240,998 (GRCm39)	I30T	probably damaging	Het
Usp48	C	A	4: 137,377,669 (GRCm39)	N231K	probably benign	Het
Zfhx3	T	G	8: 109,674,482 (GRCm39)	V1844G	possibly damaging	Het
Znrf3	A	T	11: 5,233,422 (GRCm39)	C212S	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
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
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'- ACTCTGAGAAGCGCCAAGTC -3'
(R):5'- GCTCTGGAAAGCTCAGAATGG -3'

Sequencing Primer
(F):5'- TCCCAAGTGGCTCTGATTCAAGG -3'
(R):5'- CTCTGGAAAGCTCAGAATGGGAGAC -3'

Posted On

2016-04-15