Incidental Mutation 'R4075:Tab3'
ID 316542
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 040974-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R4075 (G1)
Quality Score 222
Status Not 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: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Adgrf5 T G 17: 43,761,086 (GRCm39) V927G probably damaging Het
Agtr1a A G 13: 30,565,817 (GRCm39) N294S probably damaging Het
Aspm T C 1: 139,402,023 (GRCm39) L1229S probably damaging Het
Chmp7 A T 14: 69,969,730 (GRCm39) V70E probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cubn A G 2: 13,318,810 (GRCm39) V2963A possibly damaging Het
Depp1 A G 6: 116,629,029 (GRCm39) N124S possibly damaging Het
Dnah5 T A 15: 28,293,937 (GRCm39) D1347E probably benign Het
Dsg1a T G 18: 20,473,127 (GRCm39) N733K possibly damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Fsip2 C T 2: 82,813,245 (GRCm39) S3188L probably benign Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Hormad1 T C 3: 95,485,514 (GRCm39) M234T possibly damaging Het
Ifi44 A T 3: 151,451,613 (GRCm39) N164K probably benign Het
Ikzf3 G T 11: 98,358,469 (GRCm39) Y289* probably null Het
Il17rc A G 6: 113,458,158 (GRCm39) D327G possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lce1l C T 3: 92,757,540 (GRCm39) S106N unknown Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Map4k4 T C 1: 40,062,622 (GRCm39) Y1196H probably damaging Het
Mtr C A 13: 12,230,298 (GRCm39) probably null Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nxt1 A G 2: 148,517,652 (GRCm39) D131G probably damaging Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5bw2 T C 7: 6,573,142 (GRCm39) S51P probably benign Het
Pcdh7 A G 5: 57,879,150 (GRCm39) R902G probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptpn1 T A 2: 167,818,433 (GRCm39) probably null Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Slc28a2b T G 2: 122,344,892 (GRCm39) V166G probably benign Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Ssrp1 A C 2: 84,875,912 (GRCm39) K590N possibly damaging Het
Svs5 T C 2: 164,079,238 (GRCm39) E223G probably benign Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,764,374 (GRCm39) H417L possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp677 T C 17: 21,618,421 (GRCm39) Y493H 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
R4073:Tab3 UTSW X 84,658,063 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTACTCCCAACTATAATCCG -3'
(R):5'- AAAGGACGCTGGCTGTAATG -3'

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