Incidental Mutation 'IGL00964:Tab2'
ID 28399
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00964
Quality Score
Status
Chromosome 10
Chromosomal Location 7781417-7831994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 7785837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 638 (V638G)
Ref Sequence ENSEMBL: ENSMUSP00000121266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146444] [ENSMUST00000147938]
AlphaFold Q99K90
PDB Structure Crystal structure of the mouse TAB2-NZF in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143848
Predicted Effect probably benign
Transcript: ENSMUST00000146444
AA Change: V638G

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: V638G

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755

DomainStartEndE-ValueType
CUE 8 50 1.15e-10 SMART
low complexity region 286 311 N/A INTRINSIC
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,009,610 (GRCm39) *197C probably null Het
Acsl6 A G 11: 54,216,472 (GRCm39) Y213C probably damaging Het
Agt T C 8: 125,284,634 (GRCm39) probably benign Het
Aifm3 A G 16: 17,318,228 (GRCm39) D144G probably damaging Het
Alad T C 4: 62,432,330 (GRCm39) I32V probably benign Het
Astn2 T A 4: 66,103,424 (GRCm39) M330L unknown Het
AU040320 T A 4: 126,748,199 (GRCm39) C1029* probably null Het
Brca2 T A 5: 150,455,775 (GRCm39) I172N probably damaging Het
Brme1 T C 8: 84,893,343 (GRCm39) I170T probably benign Het
Cdk5rap3 A G 11: 96,800,765 (GRCm39) probably null Het
Dusp26 G T 8: 31,584,136 (GRCm39) R81L probably benign Het
Dync2h1 T C 9: 7,174,881 (GRCm39) probably benign Het
Ehd4 A G 2: 119,958,163 (GRCm39) C141R probably benign Het
Ftsj3 G T 11: 106,143,941 (GRCm39) A261D probably benign Het
Gm5431 G A 11: 48,780,094 (GRCm39) T554I probably damaging Het
Hyls1 A G 9: 35,473,408 (GRCm39) probably benign Het
Ifi213 T A 1: 173,421,518 (GRCm39) T124S possibly damaging Het
Ints10 T A 8: 69,264,638 (GRCm39) I457N probably damaging Het
Klk1b1 T G 7: 43,620,593 (GRCm39) S228A possibly damaging Het
Lpar2 T C 8: 70,279,162 (GRCm39) S319P probably benign Het
Lsr T C 7: 30,671,421 (GRCm39) N104S probably damaging Het
Mybpc1 T A 10: 88,391,604 (GRCm39) probably null Het
Nalcn T A 14: 123,532,796 (GRCm39) probably benign Het
Ovol2 G A 2: 144,147,599 (GRCm39) A217V probably damaging Het
Pcdh12 T A 18: 38,415,784 (GRCm39) Q447L probably benign Het
Pdgfra T C 5: 75,335,726 (GRCm39) I453T probably damaging Het
Ptprd C T 4: 75,916,793 (GRCm39) W1037* probably null Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Rev3l T C 10: 39,740,802 (GRCm39) I2995T probably benign Het
Slamf6 T A 1: 171,745,347 (GRCm39) C25S probably null Het
Slc28a2b A T 2: 122,347,527 (GRCm39) Q229H probably damaging Het
Sorbs2 A C 8: 46,248,714 (GRCm39) N520T probably damaging Het
Spr-ps1 C A 6: 85,132,016 (GRCm39) noncoding transcript Het
Stx4a A G 7: 127,441,898 (GRCm39) Q92R probably benign Het
Trim41 C A 11: 48,703,190 (GRCm39) R79S possibly damaging Het
Ttll5 A G 12: 85,896,057 (GRCm39) Y135C possibly damaging Het
Zan T C 5: 137,404,203 (GRCm39) probably benign Het
Zdhhc14 T A 17: 5,762,756 (GRCm39) L220Q probably damaging Het
Other mutations in Tab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0608:Tab2 UTSW 10 7,795,883 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-04-17