Incidental Mutation 'R9500:Atf6'
ID 717465
Institutional Source Beutler Lab
Gene Symbol Atf6
Ensembl Gene ENSMUSG00000026663
Gene Name activating transcription factor 6
Synonyms 9130025P16Rik, ESTM49, Atf6alpha
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R9500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 170704674-170867771 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 170747139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 577 (M577V)
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
AlphaFold F6VAN0
Predicted Effect probably damaging
Transcript: ENSMUST00000027974
AA Change: M577V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: M577V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,565,666 T107I possibly damaging Het
Acyp1 T A 12: 85,279,012 Y71F unknown Het
Akap11 A T 14: 78,511,103 H1281Q Het
Amz1 T C 5: 140,752,220 Y412H probably benign Het
Anxa10 C T 8: 62,092,511 M62I probably benign Het
Arhgap25 T C 6: 87,492,202 K109E probably damaging Het
Arhgap31 T A 16: 38,640,321 E43D probably damaging Het
Auts2 C A 5: 131,476,781 A82S unknown Het
Bcl3 T C 7: 19,822,677 M1V probably null Het
Cblb T C 16: 52,139,630 probably null Het
Cc2d2b T C 19: 40,809,396 V820A unknown Het
Clint1 T G 11: 45,906,367 M425R possibly damaging Het
Clvs1 A G 4: 9,429,834 D279G probably damaging Het
Colec11 A C 12: 28,595,303 I123S probably damaging Het
Crebbp C T 16: 4,093,491 E1460K probably damaging Het
Cyp2t4 G A 7: 27,155,292 V66M possibly damaging Het
Dcaf8 C G 1: 172,172,342 S22R possibly damaging Het
Dmxl1 T C 18: 49,878,204 S1143P probably damaging Het
Dnhd1 T C 7: 105,704,502 I2954T probably benign Het
Dopey2 C T 16: 93,810,283 P2275L probably benign Het
Drc3 A G 11: 60,370,508 S162G probably benign Het
Ehd2 T C 7: 15,952,152 I332V possibly damaging Het
Eml1 T A 12: 108,527,699 D584E probably damaging Het
Eogt T C 6: 97,120,031 T339A probably benign Het
Gbf1 A G 19: 46,269,950 T949A probably benign Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,858,218 probably benign Het
Gm11568 AGCCC AGCCCTGCTGCCTGCCC 11: 99,858,239 probably benign Het
Gtpbp10 A T 5: 5,556,120 C88* probably null Het
Ifit1bl2 A T 19: 34,619,108 Y369* probably null Het
Igsf6 A G 7: 121,074,474 L11P probably benign Het
Lars A T 18: 42,228,661 I627N probably damaging Het
Lmo3 G T 6: 138,416,623 Q11K Het
Mical2 A T 7: 112,336,847 probably null Het
Mmp23 A G 4: 155,652,110 V158A probably benign Het
Mmp24 T C 2: 155,812,275 I391T probably damaging Het
Mrgpra3 A T 7: 47,589,652 Y175* probably null Het
Mrpl23 G A 7: 142,536,122 V65M probably damaging Het
Mup1 A G 4: 60,500,489 L85S possibly damaging Het
Myo15b T C 11: 115,886,640 L747S probably damaging Het
Nanog G T 6: 122,713,260 W208L probably damaging Het
Nkg7 A G 7: 43,437,805 Y112C probably damaging Het
Nup155 A G 15: 8,112,316 D64G probably damaging Het
Olfr1342 A G 4: 118,689,733 S240P possibly damaging Het
Palm3 T C 8: 84,027,007 S108P probably damaging Het
Pam T C 1: 97,844,600 N579D probably benign Het
Pclo A G 5: 14,675,634 E1502G unknown Het
Pde4dip A G 3: 97,888,580 S31P unknown Het
Peg10 A T 6: 4,756,871 K482N unknown Het
Phf19 A T 2: 34,911,696 L34* probably null Het
Pla2g2c A T 4: 138,734,378 K53* probably null Het
Pla2g4f T A 2: 120,312,232 probably null Het
Polk G T 13: 96,493,841 T404K probably damaging Het
Prkdc T A 16: 15,839,215 V4058D possibly damaging Het
Prox2 T A 12: 85,088,077 I477F probably damaging Het
Ptk6 A G 2: 181,195,773 V451A probably benign Het
Ptpn3 C T 4: 57,205,914 E693K possibly damaging Het
Rag2 G A 2: 101,630,872 G509D probably damaging Het
Rapgef2 A G 3: 79,066,786 C1418R probably benign Het
Rev1 A T 1: 38,063,133 Y716* probably null Het
Rsl1d1 T A 16: 11,193,521 T440S possibly damaging Het
Samd14 T A 11: 95,023,546 Y343* probably null Het
Sema3a A T 5: 13,565,887 D426V possibly damaging Het
Slc7a11 G A 3: 50,427,752 T182M probably benign Het
Slitrk5 A G 14: 111,679,294 I117V possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
Stil A T 4: 115,021,519 H384L possibly damaging Het
Suclg2 C A 6: 95,569,685 R270L probably damaging Het
Taf5 A G 19: 47,077,332 D492G probably damaging Het
Tes3-ps T A 13: 49,494,339 Y230* probably null Het
Ttc41 G T 10: 86,729,862 A427S probably benign Het
Ttn T C 2: 76,723,650 D30903G probably damaging Het
Txndc16 A T 14: 45,169,341 L219Q probably null Het
Usp34 T A 11: 23,381,337 H1098Q probably damaging Het
Vmn2r52 T A 7: 10,171,354 Y186F probably damaging Het
Zbtb41 T C 1: 139,432,068 F512S 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
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
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
R9594:Atf6 UTSW 1 170840833 missense probably benign 0.18
R9733:Atf6 UTSW 1 170834833 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACTTTCTTTCTACCCACAGTGTG -3'
(R):5'- ACTGCCACAGTGTGTCTGAC -3'

Sequencing Primer
(F):5'- TTCATTCCAGCTCCAGAGGG -3'
(R):5'- GCCCCACCTCTGAAAAATATGTATTG -3'
Posted On 2022-07-18