|Institutional Source||Beutler Lab|
|Gene Name||TGF-beta activated kinase 1/MAP3K7 binding protein 2|
|Synonyms||1110030N06Rik, Map3k7ip2, A530078N03Rik, Tak1 binding protein 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7424 (G1)|
|Chromosomal Location||7905653-7956230 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 7907483 bp|
|Amino Acid Change||Histidine to Glutamine at position 678 (H678Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000121266 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000146444] [ENSMUST00000147938]|
|Predicted Effect||probably damaging
AA Change: H678Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H678Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
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||
|Other mutations in Tab2||
(F):5'- CATTAGCTCTGTGGGCTGACAC -3'
(R):5'- GGAAGCATGGTCAGTTCAGC -3'
(F):5'- TCTGTGGGCTGACACTCAACAC -3'
(R):5'- GATCAAAGGTCCACCATCA -3'