Incidental Mutation 'R1119:Tax1bp1'
| ID |
97713 |
| 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 |
039192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R1119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52690714-52743765 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 52718933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080723]
|
| AlphaFold |
Q3UKC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080723
|
| SMART Domains |
Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
| 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: ENSMUST00000147513
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
| Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
| Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
| Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
| Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAATCCTTGGGTGTGCTGACTGAC -3'
(R):5'- TGTGTACTGCAACAGCCTTTACTGAC -3'
Sequencing Primer
(F):5'- GACTGACTTCCTGTCCTATAAAGTGG -3'
(R):5'- CAGAGTGAATAGAAGTTAGCCTTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation