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) question?
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

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

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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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

Sequencing Primer
Posted On 2022-06-15