Incidental Mutation 'IGL02631:Tab3'
ID 301283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tab3
Ensembl Gene ENSMUSG00000035476
Gene Name TGF-beta activated kinase 1/MAP3K7 binding protein 3
Synonyms 4921526G09Rik, Map3k7ip3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # IGL02631
Quality Score
Status
Chromosome X
Chromosomal Location 84617628-84678075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84658139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 222 (N222S)
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 benign
Transcript: ENSMUST00000048250
AA Change: N222S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000039668
Gene: ENSMUSG00000035476
AA Change: N222S

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,725,506 (GRCm39) S1242P probably damaging Het
Bglap A T 3: 88,290,987 (GRCm39) Y81* probably null Het
Ccdc83 T C 7: 89,893,277 (GRCm39) D160G possibly damaging Het
Cep97 A T 16: 55,742,541 (GRCm39) C135* probably null Het
Cog1 C T 11: 113,547,304 (GRCm39) Q633* probably null Het
Cyp4f40 A T 17: 32,894,609 (GRCm39) probably benign Het
Dennd2c T A 3: 103,063,387 (GRCm39) M608K possibly damaging Het
Enpp1 A G 10: 24,517,859 (GRCm39) S855P probably damaging Het
Eprs1 T C 1: 185,160,095 (GRCm39) I1457T probably damaging Het
Fam149b G A 14: 20,425,614 (GRCm39) V300M probably damaging Het
Fcgbp T A 7: 27,784,723 (GRCm39) L261Q probably damaging Het
Flt1 G T 5: 147,610,384 (GRCm39) S413* probably null Het
Flt3 T G 5: 147,281,362 (GRCm39) D790A probably damaging Het
Gpat2 A G 2: 127,276,152 (GRCm39) probably benign Het
Gpr151 T C 18: 42,711,835 (GRCm39) K281R probably benign Het
Hoxa5 G A 6: 52,180,790 (GRCm39) R181C probably damaging Het
Irx4 C T 13: 73,416,596 (GRCm39) R331W probably damaging Het
Lmo2 T C 2: 103,811,432 (GRCm39) I155T probably benign Het
Nbeal2 G A 9: 110,459,276 (GRCm39) R1944C probably damaging Het
Obp2b A G 2: 25,629,255 (GRCm39) N141S probably damaging Het
Or4c10b T A 2: 89,711,599 (GRCm39) V143E possibly damaging Het
Or4c3d T A 2: 89,881,786 (GRCm39) N294I probably damaging Het
Papss2 T A 19: 32,611,404 (GRCm39) probably benign Het
Rapgef2 A T 3: 78,990,533 (GRCm39) M915K possibly damaging Het
Raver2 A C 4: 100,953,499 (GRCm39) D89A probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Setd2 A G 9: 110,379,644 (GRCm39) D1153G possibly damaging Het
Slc25a12 C T 2: 71,127,086 (GRCm39) G365E possibly damaging Het
Slc35e4 A C 11: 3,857,729 (GRCm39) V292G probably damaging Het
Slc36a4 T C 9: 15,638,237 (GRCm39) V221A probably damaging Het
Slc7a14 C A 3: 31,292,827 (GRCm39) A153S probably damaging Het
Smc1b T C 15: 84,991,204 (GRCm39) D658G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tdrd6 T A 17: 43,937,110 (GRCm39) T1313S probably damaging Het
Tnfrsf1b A T 4: 144,951,398 (GRCm39) C181S probably damaging Het
Trdn A T 10: 33,239,972 (GRCm39) probably null Het
Trip12 A T 1: 84,743,729 (GRCm39) V526E possibly damaging Het
Trps1 T C 15: 50,709,417 (GRCm39) D311G probably damaging Het
Ttf1 A G 2: 28,959,912 (GRCm39) I507V probably damaging Het
Unc80 A C 1: 66,569,222 (GRCm39) D959A probably damaging Het
Unc93b1 T C 19: 3,992,026 (GRCm39) probably benign Het
Utrn A G 10: 12,585,807 (GRCm39) F990S probably benign Het
V1rd19 T C 7: 23,702,825 (GRCm39) L97P probably damaging Het
Other mutations in Tab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Tab3 APN X 84,665,210 (GRCm39) missense probably damaging 0.98
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
R4075:Tab3 UTSW X 84,658,063 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16