Incidental Mutation 'R0455:Atf6'
ID 39941
Institutional Source Beutler Lab
Gene Symbol Atf6
Ensembl Gene ENSMUSG00000026663
Gene Name activating transcription factor 6
Synonyms Atf6alpha, 9130025P16Rik, ESTM49
MMRRC Submission 038655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R0455 (G1)
Quality Score 201
Status Validated
Chromosome 1
Chromosomal Location 170532243-170695340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170662492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 256 (V256A)
Ref Sequence ENSEMBL: ENSMUSP00000027974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027974]
AlphaFold F6VAN0
Predicted Effect probably benign
Transcript: ENSMUST00000027974
AA Change: V256A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: V256A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179933
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,088,180 (GRCm39) G342D possibly damaging Het
Acvr2b C T 9: 119,261,675 (GRCm39) R399W probably damaging Het
Arb2a T A 13: 77,982,832 (GRCm39) probably benign Het
Atp2b4 A T 1: 133,656,454 (GRCm39) I732N probably damaging Het
C1qtnf9 A C 14: 61,009,820 (GRCm39) Q25H probably damaging Het
Ccdc6 T A 10: 69,978,401 (GRCm39) probably benign Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Chdh A G 14: 29,756,603 (GRCm39) Y343C probably damaging Het
Col5a2 T C 1: 45,421,262 (GRCm39) probably benign Het
Cts3 G A 13: 61,716,024 (GRCm39) probably benign Het
Cyfip1 T A 7: 55,541,802 (GRCm39) D362E probably benign Het
Dsg1b T A 18: 20,529,082 (GRCm39) S273T probably benign Het
Dysf A T 6: 84,117,649 (GRCm39) H1274L probably benign Het
Eva1c T C 16: 90,672,986 (GRCm39) S187P probably benign Het
Fam13b G A 18: 34,578,581 (GRCm39) probably benign Het
Fbn2 C T 18: 58,168,408 (GRCm39) G2310S probably damaging Het
Fcna T C 2: 25,515,520 (GRCm39) Y183C probably damaging Het
Fnta T C 8: 26,491,056 (GRCm39) T263A probably benign Het
Gm94 T C 18: 43,914,309 (GRCm39) D83G possibly damaging Het
Gnal C T 18: 67,268,720 (GRCm39) probably benign Het
Grb7 T G 11: 98,343,014 (GRCm39) S244A probably benign Het
Grm3 T C 5: 9,562,477 (GRCm39) T458A probably benign Het
Hdac2 C T 10: 36,867,832 (GRCm39) R193C probably damaging Het
Hycc2 T C 1: 58,573,638 (GRCm39) probably benign Het
Ighmbp2 T C 19: 3,315,072 (GRCm39) R783G probably benign Het
Inpp5j G T 11: 3,453,122 (GRCm39) L43I possibly damaging Het
Itga11 A T 9: 62,604,243 (GRCm39) T44S probably damaging Het
Itsn1 C T 16: 91,665,036 (GRCm39) probably benign Het
Kdm6b G T 11: 69,297,822 (GRCm39) C233* probably null Het
Lamb3 T C 1: 193,025,700 (GRCm39) L1130P probably damaging Het
Lrch3 T C 16: 32,807,250 (GRCm39) F508L probably damaging Het
Lrrd1 T A 5: 3,916,425 (GRCm39) V814E probably benign Het
Megf10 C T 18: 57,386,054 (GRCm39) P356S probably benign Het
Myorg G A 4: 41,499,538 (GRCm39) R31* probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Nus1 T A 10: 52,306,190 (GRCm39) V42E probably damaging Het
Or11g24 A G 14: 50,662,359 (GRCm39) I128V possibly damaging Het
Or2a51 A C 6: 43,179,006 (GRCm39) M143L probably benign Het
Padi3 T C 4: 140,523,024 (GRCm39) N306S probably damaging Het
Pex13 T C 11: 23,605,949 (GRCm39) S94G probably benign Het
Ppm1h G T 10: 122,638,229 (GRCm39) Q166H probably benign Het
Ptafr A T 4: 132,307,396 (GRCm39) Y262F probably benign Het
Rabgap1 T A 2: 37,377,132 (GRCm39) D321E probably damaging Het
Samsn1 C T 16: 75,742,113 (GRCm39) noncoding transcript Het
Scarb1 T C 5: 125,366,745 (GRCm39) N63D probably damaging Het
Serpinb7 T C 1: 107,379,340 (GRCm39) I249T possibly damaging Het
Srpra A G 9: 35,126,277 (GRCm39) K490R probably benign Het
Sycn A G 7: 28,240,398 (GRCm39) N22D probably benign Het
Tarbp1 C T 8: 127,167,612 (GRCm39) A1067T probably benign Het
Tex14 A G 11: 87,405,131 (GRCm39) D681G possibly damaging Het
Usp34 C T 11: 23,396,741 (GRCm39) probably benign Het
Vmn2r107 T C 17: 20,595,085 (GRCm39) probably benign Het
Vwde A T 6: 13,187,528 (GRCm39) M653K probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Other mutations in Atf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Atf6 APN 1 170,616,175 (GRCm39) critical splice donor site probably null
IGL01431:Atf6 APN 1 170,680,571 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACAAAGACGTGCCTACTTCATGCTTC -3'
(R):5'- TCCCTTACAGAGTTACACACTGACTCC -3'

Sequencing Primer
(F):5'- CCAAATGTGCAATTTTGGCACAC -3'
(R):5'- AGAGTTACACACTGACTCCTTCTC -3'
Posted On 2013-05-23