|Institutional Source||Beutler Lab|
|Gene Name||activating transcription factor 6|
|Synonyms||9130025P16Rik, ESTM49, Atf6alpha|
|Is this an essential gene?||Probably non essential (E-score: 0.235)|
|Stock #||R1850 (G1)|
|Chromosomal Location||170704674-170867771 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 170819286 bp|
|Amino Acid Change||Asparagine to Lysine at position 339 (N339K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027974 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027974]|
|Predicted Effect||probably damaging
AA Change: N339K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N339K
|Meta Mutation Damage Score||0.31|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to dithiothreitol, thapsigargin, and tunicamycin. Mice homozygous for a conditional allele activated in islet cells exhibit reduced sensitivity to TUDCA. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atf6||
(F):5'- AAACATCTCCAAAGGGTCACTG -3'
(R):5'- TGGTACCATGATTCTGTGTGCC -3'
(F):5'- ACATCTCCAAAGGGTCACTGTTATC -3'
(R):5'- GCCGTGTAACTTCTAGATCGCTG -3'