Incidental Mutation 'IGL02060:Atf6'
ID 185379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf6
Ensembl Gene ENSMUSG00000026663
Gene Name activating transcription factor 6
Synonyms 9130025P16Rik, ESTM49, Atf6alpha
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02060
Quality Score
Status
Chromosome 1
Chromosomal Location 170704674-170867771 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 170819420 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 295 (R295G)
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
AlphaFold F6VAN0
Predicted Effect probably damaging
Transcript: ENSMUST00000027974
AA Change: R295G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: R295G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,055,715 I178F probably damaging Het
Aff1 T C 5: 103,783,849 V111A possibly damaging Het
Aox1 T G 1: 58,097,955 I1168R possibly damaging Het
Blm C A 7: 80,514,580 probably benign Het
Cse1l A T 2: 166,930,653 L413F probably damaging Het
Dip2c T C 13: 9,622,630 V1024A probably damaging Het
Fam13c A T 10: 70,553,141 E498V probably damaging Het
Fat4 A G 3: 39,010,271 E4792G probably damaging Het
Gm5065 A G 7: 5,359,564 T65A probably damaging Het
Gm5724 T A 6: 141,754,408 M133L probably benign Het
Gramd1a A T 7: 31,130,571 L151* probably null Het
Igbp1b G T 6: 138,657,984 A154E probably damaging Het
Itga9 A G 9: 118,661,432 K277R probably damaging Het
Klra10 T C 6: 130,272,725 Y199C probably damaging Het
Mospd3 T C 5: 137,600,004 Y85C probably damaging Het
Nol6 C T 4: 41,117,700 A887T probably damaging Het
Olfr1006 C T 2: 85,674,834 V106I probably benign Het
Olfr1197 A T 2: 88,729,563 F12Y probably damaging Het
Olfr1427 A G 19: 12,099,460 Y60H probably damaging Het
Olfr480 G T 7: 108,066,671 F42L probably benign Het
Pcdhb17 A G 18: 37,486,416 T420A probably damaging Het
Pgghg T C 7: 140,946,633 V646A probably benign Het
Prkg2 A G 5: 99,024,515 S114P probably benign Het
Rela G T 19: 5,638,600 K28N probably damaging Het
Rhbdf2 G T 11: 116,600,626 A598E probably damaging Het
Ryr2 C T 13: 11,747,564 D1454N probably damaging Het
Sdk1 C T 5: 141,953,012 L397F possibly damaging Het
Sh3pxd2a C T 19: 47,373,378 probably benign Het
Slc9a2 T A 1: 40,756,293 V518E probably damaging Het
Snapc1 A G 12: 73,968,036 Y105C probably damaging Het
Sult2a8 A G 7: 14,425,401 S98P probably damaging Het
Tmem30c T A 16: 57,290,898 M4L probably benign Het
Trim71 T C 9: 114,513,253 I654V possibly damaging Het
Uroc1 A G 6: 90,338,255 S133G probably benign Het
Vmn2r100 A G 17: 19,521,254 N76S possibly damaging Het
Zcchc14 T C 8: 121,603,895 S910G probably damaging Het
Other mutations in Atf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Atf6 APN 1 170788606 critical splice donor site probably null
IGL01431:Atf6 APN 1 170853002 splice site probably benign
IGL01755:Atf6 APN 1 170788611 missense possibly damaging 0.63
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
R8860:Atf6 UTSW 1 170852966 missense probably null 0.95
R8956:Atf6 UTSW 1 170794007 missense probably damaging 0.98
R9090:Atf6 UTSW 1 170794676 missense probably damaging 1.00
R9271:Atf6 UTSW 1 170794676 missense probably damaging 1.00
R9323:Atf6 UTSW 1 170855113 nonsense probably null
Posted On 2014-05-07