Incidental Mutation 'IGL01327:Atf6'
ID 74348
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
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # IGL01327
Quality Score
Chromosome 1
Chromosomal Location 170704674-170867771 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 170788606 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
AlphaFold F6VAN0
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182787
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 (GRCm38) V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 (GRCm38) Y209C probably benign Het
Adcy7 T G 8: 88,318,790 (GRCm38) probably benign Het
Aldh1a2 T A 9: 71,285,966 (GRCm38) F486I possibly damaging Het
Alox12 T A 11: 70,254,549 (GRCm38) H66L probably benign Het
Apoh T G 11: 108,397,361 (GRCm38) Y102D probably damaging Het
Arl9 T C 5: 77,006,554 (GRCm38) V43A possibly damaging Het
Atp4a T A 7: 30,713,250 (GRCm38) I127N possibly damaging Het
AY358078 T A 14: 51,805,709 (GRCm38) probably benign Het
Baat T G 4: 49,490,338 (GRCm38) K249Q probably damaging Het
Brat1 C T 5: 140,718,208 (GRCm38) Q739* probably null Het
C8g A G 2: 25,499,077 (GRCm38) F165L probably damaging Het
Cel T G 2: 28,557,955 (GRCm38) D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 (GRCm38) T803K unknown Het
Cpxm1 A G 2: 130,396,357 (GRCm38) L95P probably benign Het
Ctsr A G 13: 61,162,675 (GRCm38) probably benign Het
Cyth1 A G 11: 118,193,613 (GRCm38) probably null Het
Dync1h1 A T 12: 110,616,692 (GRCm38) probably benign Het
Ezh1 C T 11: 101,203,436 (GRCm38) C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 (GRCm38) W38R probably benign Het
Gm9611 T C 14: 42,294,665 (GRCm38) T39A possibly damaging Het
Gnpat T A 8: 124,878,633 (GRCm38) L287H probably damaging Het
Golm1 G T 13: 59,645,144 (GRCm38) N182K possibly damaging Het
Hdac6 T C X: 7,931,774 (GRCm38) M899V probably benign Het
Hsf3 T A X: 96,314,972 (GRCm38) M272L probably benign Het
Kif19a C T 11: 114,781,799 (GRCm38) probably benign Het
Lcn2 T G 2: 32,386,018 (GRCm38) Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 (GRCm38) S180R probably damaging Het
Ly6h A G 15: 75,565,099 (GRCm38) probably benign Het
Macf1 T C 4: 123,509,912 (GRCm38) N705D probably benign Het
Mst1r C T 9: 107,907,844 (GRCm38) P234S probably benign Het
Msto1 T A 3: 88,910,632 (GRCm38) probably null Het
Myo5a T A 9: 75,187,538 (GRCm38) probably benign Het
Nipa1 T C 7: 55,979,661 (GRCm38) I235V probably benign Het
Nlgn3 T C X: 101,318,622 (GRCm38) V399A probably benign Het
Olfr1367 A G 13: 21,347,207 (GRCm38) N93S probably benign Het
Olfr412 T A 11: 74,364,912 (GRCm38) M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 (GRCm38) S289P probably benign Het
Ppl T C 16: 5,087,644 (GRCm38) N1596D probably benign Het
Psmb6 T A 11: 70,526,586 (GRCm38) S114R possibly damaging Het
Pum1 C A 4: 130,730,543 (GRCm38) Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 (GRCm38) I75V probably benign Het
Slc24a3 T A 2: 145,602,558 (GRCm38) I284N probably benign Het
Slc44a3 C T 3: 121,527,193 (GRCm38) G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 (GRCm38) D736A probably benign Het
Stra6 A G 9: 58,152,571 (GRCm38) D605G probably benign Het
Tas2r126 T A 6: 42,434,750 (GRCm38) H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 (GRCm38) R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 (GRCm38) G14R probably benign Het
Ticrr C T 7: 79,694,461 (GRCm38) T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 (GRCm38) N518K probably benign Het
Trpm4 C A 7: 45,315,073 (GRCm38) W533C probably damaging Het
Tsen54 T C 11: 115,821,712 (GRCm38) Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 (GRCm38) T219M probably damaging Het
Usp19 T C 9: 108,498,961 (GRCm38) L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 (GRCm38) Y43F probably benign Het
Vsig1 T A X: 140,937,680 (GRCm38) V283E possibly damaging Het
Other mutations in Atf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Atf6 APN 1 170,853,002 (GRCm38) splice site probably benign
IGL01755:Atf6 APN 1 170,788,611 (GRCm38) missense possibly damaging 0.63
IGL02060:Atf6 APN 1 170,819,420 (GRCm38) missense probably damaging 0.99
IGL02416:Atf6 APN 1 170,747,157 (GRCm38) nonsense probably null
IGL02903:Atf6 APN 1 170,799,714 (GRCm38) missense probably benign 0.00
IGL02989:Atf6 APN 1 170,788,683 (GRCm38) splice site probably benign
IGL03209:Atf6 APN 1 170,834,894 (GRCm38) missense probably benign
R0455:Atf6 UTSW 1 170,834,923 (GRCm38) missense probably benign 0.00
R0467:Atf6 UTSW 1 170,794,020 (GRCm38) missense probably damaging 1.00
R0491:Atf6 UTSW 1 170,787,344 (GRCm38) critical splice donor site probably null
R0784:Atf6 UTSW 1 170,709,947 (GRCm38) missense probably benign 0.19
R1486:Atf6 UTSW 1 170,794,691 (GRCm38) missense probably damaging 1.00
R1850:Atf6 UTSW 1 170,819,286 (GRCm38) missense probably damaging 1.00
R1945:Atf6 UTSW 1 170,855,141 (GRCm38) missense probably benign 0.00
R2164:Atf6 UTSW 1 170,794,735 (GRCm38) missense probably damaging 1.00
R3782:Atf6 UTSW 1 170,794,767 (GRCm38) nonsense probably null
R4454:Atf6 UTSW 1 170,794,039 (GRCm38) missense probably damaging 0.99
R4631:Atf6 UTSW 1 170,747,197 (GRCm38) splice site probably null
R4676:Atf6 UTSW 1 170,787,410 (GRCm38) missense probably damaging 1.00
R5772:Atf6 UTSW 1 170,747,189 (GRCm38) missense probably damaging 1.00
R5860:Atf6 UTSW 1 170,841,776 (GRCm38) missense possibly damaging 0.95
R5860:Atf6 UTSW 1 170,841,775 (GRCm38) missense probably damaging 1.00
R5950:Atf6 UTSW 1 170,834,879 (GRCm38) missense probably damaging 1.00
R6242:Atf6 UTSW 1 170,793,976 (GRCm38) missense possibly damaging 0.46
R6520:Atf6 UTSW 1 170,867,669 (GRCm38) missense probably benign 0.00
R7032:Atf6 UTSW 1 170,799,612 (GRCm38) critical splice donor site probably null
R7472:Atf6 UTSW 1 170,815,491 (GRCm38) missense possibly damaging 0.83
R7923:Atf6 UTSW 1 170,794,706 (GRCm38) missense probably benign
R8002:Atf6 UTSW 1 170,819,254 (GRCm38) missense probably benign 0.43
R8860:Atf6 UTSW 1 170,852,966 (GRCm38) missense probably null 0.95
R8956:Atf6 UTSW 1 170,794,007 (GRCm38) missense probably damaging 0.98
R9090:Atf6 UTSW 1 170,794,676 (GRCm38) missense probably damaging 1.00
R9271:Atf6 UTSW 1 170,794,676 (GRCm38) missense probably damaging 1.00
R9323:Atf6 UTSW 1 170,855,113 (GRCm38) nonsense probably null
R9500:Atf6 UTSW 1 170,747,139 (GRCm38) missense probably damaging 0.98
R9594:Atf6 UTSW 1 170,840,833 (GRCm38) missense probably benign 0.18
R9733:Atf6 UTSW 1 170,834,833 (GRCm38) missense probably benign 0.00
Posted On 2013-10-07