Incidental Mutation 'IGL01431:Atf6'
ID 84140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf6
Ensembl Gene ENSMUSG00000026663
Gene Name activating transcription factor 6
Synonyms Atf6alpha, 9130025P16Rik, ESTM49
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL01431
Quality Score
Chromosome 1
Chromosomal Location 170532243-170695340 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 170680571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
AlphaFold F6VAN0
Predicted Effect probably benign
Transcript: ENSMUST00000027974
SMART Domains Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663

low complexity region 78 101 N/A INTRINSIC
low complexity region 109 121 N/A INTRINSIC
low complexity region 168 178 N/A INTRINSIC
BRLZ 291 355 2.72e-16 SMART
Blast:BRLZ 384 419 5e-6 BLAST
low complexity region 445 457 N/A INTRINSIC
low complexity region 631 650 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,089,838 (GRCm39) I897T possibly damaging Het
Aqp2 G A 15: 99,477,301 (GRCm39) V90M possibly damaging Het
Cdh3 T C 8: 107,274,301 (GRCm39) Y607H probably damaging Het
Cer1 T A 4: 82,801,068 (GRCm39) E198D probably benign Het
Dscam A G 16: 96,453,278 (GRCm39) probably null Het
Ecel1 C T 1: 87,079,226 (GRCm39) R484H probably damaging Het
Entpd7 C A 19: 43,718,278 (GRCm39) H575Q probably benign Het
F11r T C 1: 171,290,477 (GRCm39) V279A probably damaging Het
Gm17093 T A 14: 44,759,122 (GRCm39) probably benign Het
Got1 T A 19: 43,491,488 (GRCm39) K321* probably null Het
Gpn1 T C 5: 31,664,882 (GRCm39) V302A probably benign Het
Hivep1 G T 13: 42,311,493 (GRCm39) K1244N probably damaging Het
Idh3b T C 2: 130,123,817 (GRCm39) T116A possibly damaging Het
Itgb4 C A 11: 115,897,283 (GRCm39) probably benign Het
Mybl1 G T 1: 9,742,872 (GRCm39) L579I probably damaging Het
Myh14 T A 7: 44,263,782 (GRCm39) T1694S probably null Het
Mylk3 T C 8: 86,063,030 (GRCm39) D537G probably damaging Het
Myo1d A C 11: 80,565,665 (GRCm39) F387V probably damaging Het
Nek9 T C 12: 85,361,361 (GRCm39) Y448C probably benign Het
Or8k40 A T 2: 86,584,508 (GRCm39) H191Q probably benign Het
Paxbp1 T C 16: 90,832,804 (GRCm39) probably benign Het
Potefam1 A T 2: 111,055,740 (GRCm39) probably benign Het
Retreg2 T A 1: 75,121,749 (GRCm39) probably null Het
Ripply3 G A 16: 94,129,402 (GRCm39) C16Y possibly damaging Het
Robo3 G A 9: 37,330,407 (GRCm39) probably benign Het
Rrm1 C A 7: 102,106,759 (GRCm39) probably benign Het
Rsad2 T A 12: 26,498,666 (GRCm39) R269S probably benign Het
Sbp A T 17: 24,164,322 (GRCm39) probably benign Het
Schip1 A T 3: 68,525,110 (GRCm39) Q162L probably damaging Het
Senp1 T C 15: 97,980,144 (GRCm39) Y67C probably damaging Het
Slc25a25 C T 2: 32,309,103 (GRCm39) R233K probably damaging Het
Smoc1 C A 12: 81,199,525 (GRCm39) S220* probably null Het
Stab1 C A 14: 30,870,952 (GRCm39) R1299I probably benign Het
Stk17b A G 1: 53,805,074 (GRCm39) probably benign Het
Tmc7 T G 7: 118,151,985 (GRCm39) D312A probably damaging Het
Vmn1r79 T C 7: 11,910,327 (GRCm39) S70P possibly damaging Het
Zfc3h1 C A 10: 115,259,128 (GRCm39) T1591K possibly damaging Het
Other mutations in Atf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Atf6 APN 1 170,616,175 (GRCm39) critical splice donor site probably null
IGL01755:Atf6 APN 1 170,616,180 (GRCm39) missense possibly damaging 0.63
IGL02060:Atf6 APN 1 170,646,989 (GRCm39) missense probably damaging 0.99
IGL02416:Atf6 APN 1 170,574,726 (GRCm39) nonsense probably null
IGL02903:Atf6 APN 1 170,627,283 (GRCm39) missense probably benign 0.00
IGL02989:Atf6 APN 1 170,616,252 (GRCm39) splice site probably benign
IGL03209:Atf6 APN 1 170,662,463 (GRCm39) missense probably benign
R0455:Atf6 UTSW 1 170,662,492 (GRCm39) missense probably benign 0.00
R0467:Atf6 UTSW 1 170,621,589 (GRCm39) missense probably damaging 1.00
R0491:Atf6 UTSW 1 170,614,913 (GRCm39) critical splice donor site probably null
R0784:Atf6 UTSW 1 170,537,516 (GRCm39) missense probably benign 0.19
R1486:Atf6 UTSW 1 170,622,260 (GRCm39) missense probably damaging 1.00
R1850:Atf6 UTSW 1 170,646,855 (GRCm39) missense probably damaging 1.00
R1945:Atf6 UTSW 1 170,682,710 (GRCm39) missense probably benign 0.00
R2164:Atf6 UTSW 1 170,622,304 (GRCm39) missense probably damaging 1.00
R3782:Atf6 UTSW 1 170,622,336 (GRCm39) nonsense probably null
R4454:Atf6 UTSW 1 170,621,608 (GRCm39) missense probably damaging 0.99
R4631:Atf6 UTSW 1 170,574,766 (GRCm39) splice site probably null
R4676:Atf6 UTSW 1 170,614,979 (GRCm39) missense probably damaging 1.00
R5772:Atf6 UTSW 1 170,574,758 (GRCm39) missense probably damaging 1.00
R5860:Atf6 UTSW 1 170,669,345 (GRCm39) missense possibly damaging 0.95
R5860:Atf6 UTSW 1 170,669,344 (GRCm39) missense probably damaging 1.00
R5950:Atf6 UTSW 1 170,662,448 (GRCm39) missense probably damaging 1.00
R6242:Atf6 UTSW 1 170,621,545 (GRCm39) missense possibly damaging 0.46
R6520:Atf6 UTSW 1 170,695,238 (GRCm39) missense probably benign 0.00
R7032:Atf6 UTSW 1 170,627,181 (GRCm39) critical splice donor site probably null
R7472:Atf6 UTSW 1 170,643,060 (GRCm39) missense possibly damaging 0.83
R7923:Atf6 UTSW 1 170,622,275 (GRCm39) missense probably benign
R8002:Atf6 UTSW 1 170,646,823 (GRCm39) missense probably benign 0.43
R8860:Atf6 UTSW 1 170,680,535 (GRCm39) missense probably null 0.95
R8956:Atf6 UTSW 1 170,621,576 (GRCm39) missense probably damaging 0.98
R9090:Atf6 UTSW 1 170,622,245 (GRCm39) missense probably damaging 1.00
R9271:Atf6 UTSW 1 170,622,245 (GRCm39) missense probably damaging 1.00
R9323:Atf6 UTSW 1 170,682,682 (GRCm39) nonsense probably null
R9500:Atf6 UTSW 1 170,574,708 (GRCm39) missense probably damaging 0.98
R9594:Atf6 UTSW 1 170,668,402 (GRCm39) missense probably benign 0.18
R9733:Atf6 UTSW 1 170,662,402 (GRCm39) missense probably benign 0.00
Posted On 2013-11-11