Incidental Mutation 'R4073:Tab3'
ID 316427
Institutional Source Beutler Lab
Gene Symbol Tab3
Ensembl Gene ENSMUSG00000035476
Gene Name TGF-beta activated kinase 1/MAP3K7 binding protein 3
Synonyms 4921526G09Rik, Map3k7ip3
MMRRC Submission 041621-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R4073 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 84617628-84678075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84658063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 197 (V197F)
Ref Sequence ENSEMBL: ENSMUSP00000039668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048250] [ENSMUST00000137438] [ENSMUST00000146063]
AlphaFold Q571K4
PDB Structure Crystal structure of the mouse TAB3-NZF in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000048250
AA Change: V197F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039668
Gene: ENSMUSG00000035476
AA Change: V197F

DomainStartEndE-ValueType
CUE 8 50 3.16e-8 SMART
low complexity region 152 162 N/A INTRINSIC
low complexity region 175 183 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 294 307 N/A INTRINSIC
low complexity region 409 422 N/A INTRINSIC
coiled coil region 521 600 N/A INTRINSIC
low complexity region 624 638 N/A INTRINSIC
ZnF_RBZ 689 713 4.97e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137438
SMART Domains Protein: ENSMUSP00000117932
Gene: ENSMUSG00000035476

DomainStartEndE-ValueType
CUE 8 50 3.16e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146063
Meta Mutation Damage Score 0.1450 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (67/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,494 (GRCm39) noncoding transcript Het
Alox12 T C 11: 70,138,136 (GRCm39) N400D probably damaging Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Cbs C T 17: 31,851,979 (GRCm39) C8Y possibly damaging Het
Ccdc103 C T 11: 102,774,925 (GRCm39) R175W probably damaging Het
Clasp1 T C 1: 118,431,578 (GRCm39) F171L probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cytl1 A G 5: 37,892,940 (GRCm39) I17V unknown Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dock7 A T 4: 98,896,296 (GRCm39) S768R probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Ehhadh T C 16: 21,585,257 (GRCm39) D208G probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Erbin T C 13: 103,996,619 (GRCm39) E211G probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Gpd2 A G 2: 57,180,025 (GRCm39) R91G probably damaging Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Il23r A G 6: 67,463,106 (GRCm39) I129T probably damaging Het
Jph4 T C 14: 55,352,497 (GRCm39) S79G probably benign Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Lrrc71 G A 3: 87,652,569 (GRCm39) T185I probably benign Het
Mroh1 A G 15: 76,292,185 (GRCm39) D219G probably benign Het
Mtor T A 4: 148,633,832 (GRCm39) S2342T probably damaging Het
Nf2 T C 11: 4,798,958 (GRCm39) S10G probably benign Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nrm T A 17: 36,172,424 (GRCm39) probably benign Het
Nsd1 T A 13: 55,395,541 (GRCm39) H1047Q probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or2t47 T C 11: 58,442,888 (GRCm39) Y59C probably damaging Het
Or4k5 A G 14: 50,385,500 (GRCm39) V277A possibly damaging Het
Or4x13 T C 2: 90,231,337 (GRCm39) F111L probably benign Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or6aa1 T A 7: 86,044,155 (GRCm39) I184F probably damaging Het
Or8b38 T C 9: 37,973,165 (GRCm39) L183P probably damaging Het
Pbx3 T C 2: 34,114,424 (GRCm39) Y112C probably damaging Het
Pde11a C T 2: 76,168,242 (GRCm39) R237H probably damaging Het
Phactr1 ACTT A 13: 43,213,245 (GRCm39) probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptgs1 C T 2: 36,127,788 (GRCm39) R116C probably damaging Het
Rab39b T C X: 74,618,658 (GRCm39) probably benign Het
Rpp25 T C 9: 57,411,592 (GRCm39) S25P probably benign Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Sbk3 G T 7: 4,973,501 (GRCm39) A41D probably damaging Het
Slc24a3 T A 2: 145,455,636 (GRCm39) probably benign Het
Slc28a3 T C 13: 58,707,104 (GRCm39) I565V probably benign Het
Slc35a3 T C 3: 116,468,887 (GRCm39) T275A probably benign Het
Spink12 A G 18: 44,237,731 (GRCm39) N3S possibly damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Taf2 A G 15: 54,915,633 (GRCm39) L431P probably damaging Het
Tas2r131 A T 6: 132,934,802 (GRCm39) Y2* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Trpv1 T C 11: 73,141,606 (GRCm39) V175A probably damaging Het
Usp21 T C 1: 171,109,746 (GRCm39) probably benign Het
Vmn1r25 A G 6: 57,955,572 (GRCm39) V239A possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfhx4 G T 3: 5,464,384 (GRCm39) C1514F probably damaging Het
Other mutations in Tab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Tab3 APN X 84,665,210 (GRCm39) missense probably damaging 0.98
IGL02631:Tab3 APN X 84,658,139 (GRCm39) missense probably benign 0.02
R3499:Tab3 UTSW X 84,658,727 (GRCm39) missense probably benign 0.10
R4075:Tab3 UTSW X 84,658,063 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCTACTCCCAACTATAATCCG -3'
(R):5'- AGGACGCTGGCTGTAATGAG -3'

Sequencing Primer
(F):5'- CCATCTTCCATGCAAACAG -3'
(R):5'- CTGTAATGAGGCACTGGGC -3'
Posted On 2015-05-15