|Institutional Source||Beutler Lab|
|Gene Name||apoptosis antagonizing transcription factor|
|Synonyms||Trb, 4933415H02Rik, 5830465M17Rik, Che-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7212 (G1)|
|Chromosomal Location||84422855-84513522 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 84449180 bp|
|Amino Acid Change||Arginine to Glutamine at position 435 (R435Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018841]|
|Predicted Effect||probably damaging
AA Change: R435Q
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: R435Q
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
|MGI Phenotype||Strain: 2176283
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous embryos do not develop past the compacted morula stage, and after failing to maintain compaction. Mutant embryos show abnormal morphology at E3.5, with most not forming a blastocoel cavity. Severely reduced cell proliferation is observed before blastocyst formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aatf||
(F):5'- CACACTGGTCAGCAGATTGC -3'
(R):5'- TGGATGTCAGCACAGCTATTATAG -3'
(F):5'- CCACACTAAGGGTAAAGATCCTAAG -3'
(R):5'- GTTAGCTACCTTTGAAAACGCCG -3'