|Institutional Source||Beutler Lab|
|Gene Name||Tax1 (human T cell leukemia virus type I) binding protein 1|
|Synonyms||1700069J21Rik, 1200003J11Rik, D6Ertd404e, D6Ertd772e, T6BP, TXBP151|
|Essential gene?||Probably non essential (E-score: 0.107)|
|Stock #||R6313 (G1)|
|Chromosomal Location||52713729-52766780 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 52744356 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000079548 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080723]|
|Meta Mutation Damage Score||0.9484|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tax1bp1||
(F):5'- TCGTTCAGCGACTTTTCCAG -3'
(R):5'- ACGTGACTATTCTCCTGAAGCTAAG -3'
(F):5'- CAGCGACTTTTCCAGTAACTTAC -3'
(R):5'- TCTGCATGGTCACCACATAC -3'