Incidental Mutation 'R0608:Tab2'
ID 54417
Institutional Source Beutler Lab
Gene Symbol Tab2
Ensembl Gene ENSMUSG00000015755
Gene Name TGF-beta activated kinase 1/MAP3K7 binding protein 2
Synonyms 1110030N06Rik, Map3k7ip2, A530078N03Rik, Tak1 binding protein 2
MMRRC Submission 038797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0608 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 7781417-7831994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 7795883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 126 (V126I)
Ref Sequence ENSEMBL: ENSMUSP00000122559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130322] [ENSMUST00000146444] [ENSMUST00000147938]
AlphaFold Q99K90
Predicted Effect probably damaging
Transcript: ENSMUST00000130322
AA Change: V126I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122559
Gene: ENSMUSG00000015755
AA Change: V126I

low complexity region 212 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146444
AA Change: V200I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: V200I

CUE 8 50 1.15e-10 SMART
low complexity region 286 311 N/A INTRINSIC
coiled coil region 532 619 N/A INTRINSIC
ZnF_RBZ 666 690 1.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147938
AA Change: V200I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755
AA Change: V200I

CUE 8 50 1.15e-10 SMART
low complexity region 286 311 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ampd3 C A 7: 110,394,997 (GRCm39) D315E probably damaging Het
Ampd3 T A 7: 110,394,998 (GRCm39) F316I probably damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atxn2l A G 7: 126,100,588 (GRCm39) probably null Het
Bckdhb T G 9: 83,835,789 (GRCm39) F98V probably damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Ccdc28a G A 10: 18,100,699 (GRCm39) R90C probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cep128 T G 12: 90,966,309 (GRCm39) probably benign Het
Cep72 A T 13: 74,186,423 (GRCm39) H249Q probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Col11a1 T C 3: 114,012,364 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah17 G T 11: 117,981,575 (GRCm39) Y1716* probably null Het
Dnm1 T C 2: 32,225,836 (GRCm39) E383G possibly damaging Het
Dst C A 1: 34,329,437 (GRCm39) probably null Het
Edil3 T C 13: 89,332,968 (GRCm39) S375P probably damaging Het
Eme1 A G 11: 94,540,908 (GRCm39) C277R probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Fbxl6 C T 15: 76,420,953 (GRCm39) V341M probably benign Het
Fgf14 A G 14: 124,914,015 (GRCm39) S39P probably damaging Het
Fmo4 C T 1: 162,631,220 (GRCm39) R249H possibly damaging Het
Gle1 T A 2: 29,830,240 (GRCm39) D265E probably benign Het
Gml2 T C 15: 74,693,235 (GRCm39) probably null Het
Golgb1 G T 16: 36,736,692 (GRCm39) E1980* probably null Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Heca T C 10: 17,791,039 (GRCm39) D339G possibly damaging Het
Hepacam2 T C 6: 3,483,479 (GRCm39) T101A possibly damaging Het
Ift88 T C 14: 57,733,678 (GRCm39) V707A probably benign Het
Kdm3a C T 6: 71,597,030 (GRCm39) G252D probably benign Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Kntc1 A T 5: 123,924,137 (GRCm39) N1008Y probably damaging Het
Lrp2 G T 2: 69,316,587 (GRCm39) N2131K probably benign Het
Magi3 C G 3: 103,924,873 (GRCm39) G1092A probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mrps26 G T 2: 130,405,778 (GRCm39) R27L possibly damaging Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Naif1 T C 2: 32,344,908 (GRCm39) M204T probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Neb A T 2: 52,216,769 (GRCm39) D135E probably benign Het
Nlrp6 C T 7: 140,503,399 (GRCm39) Q502* probably null Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Obi1 T C 14: 104,716,963 (GRCm39) Y470C probably damaging Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Pnpla8 C T 12: 44,330,246 (GRCm39) P48L probably benign Het
Rab44 T A 17: 29,366,317 (GRCm39) probably null Het
Ranbp2 T C 10: 58,329,720 (GRCm39) I3031T probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Serpinh1 A G 7: 98,998,601 (GRCm39) C10R unknown Het
Sh2d4a A G 8: 68,799,346 (GRCm39) Y405C possibly damaging Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spire1 T C 18: 67,661,945 (GRCm39) R163G probably damaging Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Susd2 C T 10: 75,474,069 (GRCm39) A509T probably benign Het
Sycp2 A G 2: 178,024,197 (GRCm39) F396L probably damaging Het
Syne2 T C 12: 76,010,587 (GRCm39) L2499P probably damaging Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tecpr1 T C 5: 144,148,317 (GRCm39) T363A probably damaging Het
Terb2 A G 2: 122,016,816 (GRCm39) D16G probably benign Het
Tm2d2 A G 8: 25,510,552 (GRCm39) E137G probably benign Het
Trim30d T A 7: 104,121,692 (GRCm39) H201L probably damaging Het
Tspan3 A G 9: 56,054,669 (GRCm39) probably null Het
Ttn A T 2: 76,617,667 (GRCm39) L16268Q probably damaging Het
Ttn A T 2: 76,626,529 (GRCm39) probably null Het
Ubap2 T A 4: 41,218,319 (GRCm39) T263S probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zeb2 A T 2: 44,886,138 (GRCm39) M973K possibly damaging Het
Zfp229 A G 17: 21,965,615 (GRCm39) E615G probably damaging Het
Zfp655 T A 5: 145,180,867 (GRCm39) S242T possibly damaging Het
Zfp788 T A 7: 41,297,705 (GRCm39) F62I possibly damaging Het
Zmynd8 A G 2: 165,629,078 (GRCm39) probably null Het
Other mutations in Tab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Tab2 APN 10 7,785,837 (GRCm39) missense probably benign 0.21
IGL01316:Tab2 APN 10 7,800,468 (GRCm39) missense probably damaging 1.00
IGL01902:Tab2 APN 10 7,795,756 (GRCm39) missense probably benign 0.12
IGL03338:Tab2 APN 10 7,795,039 (GRCm39) missense probably damaging 1.00
Cosmo UTSW 10 7,800,483 (GRCm39) missense probably damaging 1.00
Cosmo-2 UTSW 10 7,783,245 (GRCm39) missense probably damaging 1.00
R0068:Tab2 UTSW 10 7,795,441 (GRCm39) missense probably damaging 1.00
R0068:Tab2 UTSW 10 7,795,441 (GRCm39) missense probably damaging 1.00
R0271:Tab2 UTSW 10 7,794,922 (GRCm39) missense probably benign
R0458:Tab2 UTSW 10 7,795,319 (GRCm39) missense probably damaging 1.00
R0632:Tab2 UTSW 10 7,795,565 (GRCm39) missense probably benign 0.07
R0744:Tab2 UTSW 10 7,783,345 (GRCm39) unclassified probably benign
R1162:Tab2 UTSW 10 7,800,483 (GRCm39) missense probably damaging 1.00
R1424:Tab2 UTSW 10 7,795,812 (GRCm39) missense possibly damaging 0.86
R1954:Tab2 UTSW 10 7,795,094 (GRCm39) missense probably damaging 1.00
R2516:Tab2 UTSW 10 7,783,245 (GRCm39) missense probably damaging 1.00
R2518:Tab2 UTSW 10 7,783,245 (GRCm39) missense probably damaging 1.00
R2520:Tab2 UTSW 10 7,783,245 (GRCm39) missense probably damaging 1.00
R3418:Tab2 UTSW 10 7,783,245 (GRCm39) missense probably damaging 1.00
R4081:Tab2 UTSW 10 7,795,595 (GRCm39) missense probably damaging 1.00
R4177:Tab2 UTSW 10 7,795,123 (GRCm39) missense probably damaging 1.00
R4178:Tab2 UTSW 10 7,795,123 (GRCm39) missense probably damaging 1.00
R5410:Tab2 UTSW 10 7,795,585 (GRCm39) missense possibly damaging 0.86
R5681:Tab2 UTSW 10 7,795,837 (GRCm39) missense probably damaging 1.00
R5683:Tab2 UTSW 10 7,794,876 (GRCm39) critical splice donor site probably null
R6857:Tab2 UTSW 10 7,796,177 (GRCm39) missense possibly damaging 0.50
R7424:Tab2 UTSW 10 7,783,247 (GRCm39) missense probably damaging 1.00
R7692:Tab2 UTSW 10 7,786,869 (GRCm39) missense probably damaging 1.00
R7790:Tab2 UTSW 10 7,796,188 (GRCm39) missense probably damaging 1.00
R7792:Tab2 UTSW 10 7,794,897 (GRCm39) missense possibly damaging 0.50
R8897:Tab2 UTSW 10 7,786,897 (GRCm39) missense probably damaging 1.00
R9014:Tab2 UTSW 10 7,794,920 (GRCm39) missense probably damaging 1.00
R9482:Tab2 UTSW 10 7,795,124 (GRCm39) missense probably damaging 1.00
R9616:Tab2 UTSW 10 7,795,005 (GRCm39) missense possibly damaging 0.88
R9733:Tab2 UTSW 10 7,795,214 (GRCm39) missense possibly damaging 0.69
Z1088:Tab2 UTSW 10 7,796,030 (GRCm39) missense possibly damaging 0.88
Z1177:Tab2 UTSW 10 7,794,943 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11