Incidental Mutation 'IGL02383:Tax1bp1'
ID |
291461 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL02383
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
52690714-52743765 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 52730351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 611
(S611F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080723]
|
AlphaFold |
Q3UKC1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080723
AA Change: S611F
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079548 Gene: ENSMUSG00000004535 AA Change: S611F
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 |
noncoding transcript
Transcript: ENSMUST00000149586
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
Other mutations in Tax1bp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R9459:Tax1bp1
|
UTSW |
6 |
52,706,314 (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 |
|
Posted On |
2015-04-16 |