Incidental Mutation 'R9459:Tax1bp1'
| ID |
714756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tax1bp1
|
| Ensembl Gene |
ENSMUSG00000004535 |
| Gene Name |
Tax1 (human T cell leukemia virus type I) binding protein 1 |
| Synonyms |
1700069J21Rik, TXBP151, D6Ertd772e, 1200003J11Rik, T6BP, D6Ertd404e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R9459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
52690714-52743765 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 52706314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 105
(V105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080723]
[ENSMUST00000129660]
[ENSMUST00000138040]
[ENSMUST00000149588]
|
| AlphaFold |
Q3UKC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080723
AA Change: V105G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: V105G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
15 |
416 |
2.6e-92 |
PFAM |
|
coiled coil region
|
569 |
620 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
778 |
7.57e1 |
SMART |
|
ZnF_C2H2
|
780 |
805 |
3.21e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129660
|
| SMART Domains |
Protein: ENSMUSP00000122922
Gene: ENSMUSG00000004535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
87 |
3.2e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138040
AA Change: V105G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119522
Gene: ENSMUSG00000004535
AA Change: V105G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
172 |
8.5e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149588
AA Change: V105G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116059
Gene: ENSMUSG00000004535
AA Change: V105G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
161 |
2.3e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,735,414 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,189,468 (GRCm39) |
I390V |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,123,651 (GRCm39) |
N400S |
probably benign |
Het |
| Baalc |
A |
T |
15: 38,797,419 (GRCm39) |
N70I |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,464,094 (GRCm39) |
V1286D |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,234,470 (GRCm39) |
R81G |
possibly damaging |
Het |
| Cd209g |
T |
C |
8: 4,185,610 (GRCm39) |
S15P |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,883,884 (GRCm39) |
W207* |
probably null |
Het |
| Cmpk2 |
C |
T |
12: 26,528,022 (GRCm39) |
T413M |
probably damaging |
Het |
| Coq4 |
T |
A |
2: 29,678,562 (GRCm39) |
Y63N |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,117 (GRCm39) |
S1478T |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,134 (GRCm39) |
F378L |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,574,341 (GRCm39) |
V324A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,907 (GRCm39) |
L1200P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,794,679 (GRCm39) |
W285R |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,270,707 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,499,165 (GRCm39) |
T5I |
possibly damaging |
Het |
| Hps4 |
T |
C |
5: 112,522,875 (GRCm39) |
S578P |
probably benign |
Het |
| Kctd13 |
T |
A |
7: 126,544,254 (GRCm39) |
D317E |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,509 (GRCm39) |
D881E |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,171 (GRCm39) |
P473L |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,799,775 (GRCm39) |
D371V |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,758 (GRCm39) |
S112P |
possibly damaging |
Het |
| Msh3 |
A |
G |
13: 92,352,047 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Mybl1 |
A |
G |
1: 9,746,484 (GRCm39) |
V392A |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,722,380 (GRCm39) |
I1182V |
possibly damaging |
Het |
| Nectin1 |
A |
C |
9: 43,715,090 (GRCm39) |
E442A |
probably benign |
Het |
| Nscme3l |
T |
A |
19: 5,553,757 (GRCm39) |
H8L |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,474,884 (GRCm39) |
H839N |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,967 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i1b |
T |
C |
19: 13,896,674 (GRCm39) |
C97R |
possibly damaging |
Het |
| Pacs1 |
C |
T |
19: 5,195,098 (GRCm39) |
|
probably null |
Het |
| Pcdh17 |
G |
T |
14: 84,686,063 (GRCm39) |
E843D |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,228,572 (GRCm39) |
L1531P |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,129 (GRCm39) |
D973G |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,614,800 (GRCm39) |
Y214C |
probably damaging |
Het |
| Plcb1 |
T |
C |
2: 135,164,558 (GRCm39) |
Y427H |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,743,482 (GRCm39) |
N402S |
possibly damaging |
Het |
| Rassf4 |
T |
A |
6: 116,618,749 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,768,068 (GRCm39) |
T2856I |
probably damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,533,520 (GRCm39) |
K192* |
probably null |
Het |
| Slfn14 |
T |
G |
11: 83,170,198 (GRCm39) |
Q482P |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,205 (GRCm39) |
V64A |
probably benign |
Het |
| Tbc1d22a |
T |
G |
15: 86,120,021 (GRCm39) |
S142A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,992,007 (GRCm39) |
F594S |
probably damaging |
Het |
| Uba3 |
T |
C |
6: 97,166,559 (GRCm39) |
I281V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,286,595 (GRCm39) |
E723G |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,024 (GRCm39) |
S391F |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,199,555 (GRCm39) |
D166E |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,503 (GRCm39) |
V54A |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,668 (GRCm39) |
E411D |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,753 (GRCm39) |
I1194T |
probably damaging |
Het |
|
| Other mutations in Tax1bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02383:Tax1bp1
|
APN |
6 |
52,730,351 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03177:Tax1bp1
|
APN |
6 |
52,713,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Tax1bp1
|
UTSW |
6 |
52,718,925 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Tax1bp1
|
UTSW |
6 |
52,718,933 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Tax1bp1
|
UTSW |
6 |
52,721,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Tax1bp1
|
UTSW |
6 |
52,704,179 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Tax1bp1
|
UTSW |
6 |
52,710,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1661:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1665:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1712:Tax1bp1
|
UTSW |
6 |
52,706,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Tax1bp1
|
UTSW |
6 |
52,698,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Tax1bp1
|
UTSW |
6 |
52,742,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Tax1bp1
|
UTSW |
6 |
52,735,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3782:Tax1bp1
|
UTSW |
6 |
52,716,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Tax1bp1
|
UTSW |
6 |
52,719,770 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4238:Tax1bp1
|
UTSW |
6 |
52,743,036 (GRCm39) |
nonsense |
probably null |
|
|
R4303:Tax1bp1
|
UTSW |
6 |
52,704,263 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4665:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4870:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5009:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5965:Tax1bp1
|
UTSW |
6 |
52,706,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Tax1bp1
|
UTSW |
6 |
52,721,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6328:Tax1bp1
|
UTSW |
6 |
52,723,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6338:Tax1bp1
|
UTSW |
6 |
52,706,361 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Tax1bp1
|
UTSW |
6 |
52,710,208 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7251:Tax1bp1
|
UTSW |
6 |
52,698,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7531:Tax1bp1
|
UTSW |
6 |
52,723,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8225:Tax1bp1
|
UTSW |
6 |
52,721,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9138:Tax1bp1
|
UTSW |
6 |
52,718,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9391:Tax1bp1
|
UTSW |
6 |
52,735,220 (GRCm39) |
nonsense |
probably null |
|
|
R9455:Tax1bp1
|
UTSW |
6 |
52,743,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Tax1bp1
|
UTSW |
6 |
52,704,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Tax1bp1
|
UTSW |
6 |
52,698,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTTTGGGCTATGTTTGAGAAG -3'
(R):5'- CAACTGGATTAGGATACCAGTCAAAG -3'
Sequencing Primer
(F):5'- TTGAGAAGAAAGTATAACTTGGACTG -3'
(R):5'- GTAAACTCTATACCTCACTGTAGGTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation