Incidental Mutation 'R2308:Tbxas1'
| ID |
244675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbxas1
|
| Ensembl Gene |
ENSMUSG00000029925 |
| Gene Name |
thromboxane A synthase 1, platelet |
| Synonyms |
TXS, CYP5, TXAS, CYP5A1 |
| MMRRC Submission |
040307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2308 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38852338-39061519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39004595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 281
(M281V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003017]
|
| AlphaFold |
P36423 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003017
AA Change: M281V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000003017
Gene: ENSMUSG00000029925
AA Change: M281V
| 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: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,903 (GRCm39) |
S907P |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,821,503 (GRCm39) |
E223K |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,288,366 (GRCm39) |
I846T |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,895,503 (GRCm39) |
Y840C |
probably damaging |
Het |
| Gramd1a |
T |
C |
7: 30,839,215 (GRCm39) |
D231G |
probably damaging |
Het |
| Mark2 |
A |
C |
19: 7,259,299 (GRCm39) |
S90A |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,409,548 (GRCm39) |
Q432R |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Met |
T |
C |
6: 17,491,741 (GRCm39) |
S168P |
probably benign |
Het |
| Nup210 |
T |
C |
6: 91,017,850 (GRCm39) |
I304V |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,312 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a27 |
T |
A |
2: 88,559,428 (GRCm39) |
I172F |
probably damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,260,135 (GRCm39) |
S43P |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,829,833 (GRCm39) |
K132I |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,589,102 (GRCm39) |
I71K |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,648,959 (GRCm39) |
N127I |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,726 (GRCm39) |
D566V |
probably damaging |
Het |
| Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,688,156 (GRCm39) |
I2385F |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,931,650 (GRCm39) |
I8T |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,007,455 (GRCm39) |
F477S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,815 (GRCm39) |
E470G |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,480 (GRCm39) |
K540R |
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 |
|
|
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'- CATCAGTTGGCTCCTCACTG -3'
(R):5'- TTGTGATGACCTCATGGCC -3'
Sequencing Primer
(F):5'- CACTGCTGTCATTCAGGTGGATAC -3'
(R):5'- TCATGGCCCGCAATGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation