Incidental Mutation 'R3804:Tax1bp1'
ID 274490
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 040879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R3804 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 52690714-52743765 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52719770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 453 (F453L)
Ref Sequence ENSEMBL: ENSMUSP00000079548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080723]
AlphaFold Q3UKC1
Predicted Effect probably benign
Transcript: ENSMUST00000080723
AA Change: F453L

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: F453L

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Adgra1 A G 7: 139,425,510 (GRCm39) T8A probably benign Het
Alms1 A G 6: 85,596,629 (GRCm39) Y954C probably damaging Het
AU021092 A C 16: 5,034,626 (GRCm39) F199V possibly damaging Het
Bahcc1 C T 11: 120,174,184 (GRCm39) P1648L probably benign Het
Cacna1s T A 1: 136,034,756 (GRCm39) C1319S possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cntn5 A G 9: 9,781,668 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,002 (GRCm39) K159E probably damaging Het
Dgkz C A 2: 91,769,975 (GRCm39) R563L probably benign Het
Dnah8 A G 17: 30,889,621 (GRCm39) E718G probably benign Het
Dop1a T C 9: 86,403,048 (GRCm39) L1416P probably damaging Het
Dstyk G A 1: 132,377,464 (GRCm39) A110T probably damaging Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Gmppb T C 9: 107,927,773 (GRCm39) Y176H probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Gtf3c3 A G 1: 54,463,166 (GRCm39) probably null Het
Hmcn2 A G 2: 31,242,897 (GRCm39) probably null Het
Icam2 A G 11: 106,271,648 (GRCm39) L94P probably damaging Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Meltf A G 16: 31,703,816 (GRCm39) H181R probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Or1e16 T C 11: 73,286,776 (GRCm39) Q24R probably benign Het
Or5p4 A T 7: 107,680,378 (GRCm39) I126F probably damaging Het
Or6c212 T A 10: 129,558,918 (GRCm39) D165V possibly damaging Het
Or6n2 T A 1: 173,897,474 (GRCm39) N203K probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pgm2l1 T C 7: 99,901,474 (GRCm39) V121A probably benign Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Pif1 T A 9: 65,495,588 (GRCm39) V166E probably damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rxra T C 2: 27,646,272 (GRCm39) C374R probably damaging Het
Septin3 T C 15: 82,170,630 (GRCm39) probably benign Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc22a15 C T 3: 101,804,590 (GRCm39) G145D probably damaging Het
Slc28a1 A T 7: 80,775,969 (GRCm39) I222F probably damaging Het
Slc43a2 T C 11: 75,454,424 (GRCm39) L323P probably benign Het
Sorbs3 A G 14: 70,436,800 (GRCm39) probably benign Het
Spink10 C T 18: 62,786,485 (GRCm39) probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Sun1 C A 5: 139,211,117 (GRCm39) C164* probably null Het
Tmem54 A G 4: 129,002,013 (GRCm39) N9S probably benign Het
Tmx4 A G 2: 134,462,497 (GRCm39) W145R probably damaging Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn1r40 A G 6: 89,691,991 (GRCm39) I269M probably benign Het
Wdr7 G T 18: 63,853,907 (GRCm39) R80L probably benign Het
Zap70 A T 1: 36,810,223 (GRCm39) Q111L possibly damaging Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign Het
Other mutations in Tax1bp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGATGCTTTTCCTCAGCTGTTAAG -3'
(R):5'- AGGCCAATGACTTGAAATCGAG -3'

Sequencing Primer
(F):5'- CCTCAGCTGTTAAGTAATCCTTAGAC -3'
(R):5'- TCTATTCCTGAGACCCAGAGAGTG -3'
Posted On 2015-04-02