|Institutional Source||Beutler Lab|
|Gene Name||TGF-beta activated kinase 1/MAP3K7 binding protein 1|
|Synonyms||2310012M03Rik, Map3k7ip1, b2b449Clo, Tak1-binding protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3943 (G1)|
|Chromosomal Location||80133127-80161707 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80153740 bp|
|Amino Acid Change||Leucine to Proline at position 258 (L258P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023050 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023050] [ENSMUST00000229320]|
|Predicted Effect||probably damaging
AA Change: L258P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L258P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.338|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant fetuses exhibit edema, hemorrhaging, cardiovascular and pulmonary dysmorphogenesis, and die in the late stages of gestation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tab1||
(F):5'- TGTAGGCGGAGACCTGTTAG -3'
(R):5'- AGCTCACAGGATCAGACTGC -3'
(F):5'- TGTGACTCTCCATCATGACAGGG -3'
(R):5'- TCAGACTGCTGACCTAGGC -3'