Incidental Mutation 'IGL01431:Atf6'
ID84140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf6
Ensembl Gene ENSMUSG00000026663
Gene Nameactivating transcription factor 6
Synonyms9130025P16Rik, ESTM49, Atf6alpha
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01431
Quality Score
Status
Chromosome1
Chromosomal Location170704674-170867771 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 170853002 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
Predicted Effect probably benign
Transcript: ENSMUST00000027974
SMART Domains Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663

DomainStartEndE-ValueType
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
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Atf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Atf6 APN 1 170788606 critical splice donor site probably null
IGL01755:Atf6 APN 1 170788611 missense possibly damaging 0.63
IGL02060:Atf6 APN 1 170819420 missense probably damaging 0.99
IGL02416:Atf6 APN 1 170747157 nonsense probably null
IGL02903:Atf6 APN 1 170799714 missense probably benign 0.00
IGL02989:Atf6 APN 1 170788683 splice site probably benign
IGL03209:Atf6 APN 1 170834894 missense probably benign
R0455:Atf6 UTSW 1 170834923 missense probably benign 0.00
R0467:Atf6 UTSW 1 170794020 missense probably damaging 1.00
R0491:Atf6 UTSW 1 170787344 critical splice donor site probably null
R0784:Atf6 UTSW 1 170709947 missense probably benign 0.19
R1486:Atf6 UTSW 1 170794691 missense probably damaging 1.00
R1850:Atf6 UTSW 1 170819286 missense probably damaging 1.00
R1945:Atf6 UTSW 1 170855141 missense probably benign 0.00
R2164:Atf6 UTSW 1 170794735 missense probably damaging 1.00
R3782:Atf6 UTSW 1 170794767 nonsense probably null
R4454:Atf6 UTSW 1 170794039 missense probably damaging 0.99
R4631:Atf6 UTSW 1 170747197 splice site probably null
R4676:Atf6 UTSW 1 170787410 missense probably damaging 1.00
R5772:Atf6 UTSW 1 170747189 missense probably damaging 1.00
R5860:Atf6 UTSW 1 170841775 missense probably damaging 1.00
R5860:Atf6 UTSW 1 170841776 missense possibly damaging 0.95
R5950:Atf6 UTSW 1 170834879 missense probably damaging 1.00
R6242:Atf6 UTSW 1 170793976 missense possibly damaging 0.46
R6520:Atf6 UTSW 1 170867669 missense probably benign 0.00
R7032:Atf6 UTSW 1 170799612 critical splice donor site probably null
R7472:Atf6 UTSW 1 170815491 missense possibly damaging 0.83
R7923:Atf6 UTSW 1 170794706 missense probably benign
R8002:Atf6 UTSW 1 170819254 missense probably benign 0.43
Posted On2013-11-11