Incidental Mutation 'IGL00790:Tab3'
ID14346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tab3
Ensembl Gene ENSMUSG00000035476
Gene NameTGF-beta activated kinase 1/MAP3K7 binding protein 3
Synonyms4921526G09Rik, Map3k7ip3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL00790
Quality Score
Status
ChromosomeX
Chromosomal Location85574022-85634469 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85621604 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 591 (N591K)
Ref Sequence ENSEMBL: ENSMUSP00000039668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048250]
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: N591K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039668
Gene: ENSMUSG00000035476
AA Change: N591K

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
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Art4 T A 6: 136,854,495 Q216L probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Gnal A G 18: 67,134,289 probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Rgs17 A G 10: 5,862,624 Q25P possibly damaging Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tfcp2 T C 15: 100,513,178 probably benign Het
Them5 A T 3: 94,343,409 D93V probably damaging Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Tab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Tab3 APN X 85614533 missense probably benign 0.02
R3499:Tab3 UTSW X 85615121 missense probably benign 0.10
R4073:Tab3 UTSW X 85614457 missense probably damaging 1.00
R4075:Tab3 UTSW X 85614457 missense probably damaging 1.00
Posted On2012-12-06