Incidental Mutation 'R4454:Atf6'
| ID |
329070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf6
|
| Ensembl Gene |
ENSMUSG00000026663 |
| Gene Name |
activating transcription factor 6 |
| Synonyms |
Atf6alpha, 9130025P16Rik, ESTM49 |
| MMRRC Submission |
041714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R4454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170532243-170695340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 170621608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 471
(R471Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027974]
|
| AlphaFold |
F6VAN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027974
AA Change: R471Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: R471Q
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.2122 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
A |
2: 126,889,061 (GRCm39) |
F509I |
probably damaging |
Het |
| Asmt |
A |
T |
X: 169,106,456 (GRCm39) |
M19L |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Baiap3 |
T |
A |
17: 25,468,510 (GRCm39) |
D250V |
probably damaging |
Het |
| C2cd4d |
T |
A |
3: 94,271,054 (GRCm39) |
F107I |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cldn6 |
T |
C |
17: 23,900,060 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
A |
G |
6: 30,626,323 (GRCm39) |
N228S |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,663,834 (GRCm39) |
E163G |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,747,716 (GRCm39) |
S1478G |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 15,995,011 (GRCm39) |
C2675S |
probably damaging |
Het |
| Cthrc1 |
C |
A |
15: 38,940,408 (GRCm39) |
Q4K |
probably benign |
Het |
| Ddo |
A |
T |
10: 40,523,543 (GRCm39) |
I178F |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,399 (GRCm39) |
T1836A |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,215 (GRCm39) |
Q107P |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,172 (GRCm39) |
N93S |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,304,303 (GRCm39) |
I501V |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,966,167 (GRCm39) |
S642F |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gm12034 |
T |
A |
11: 20,396,476 (GRCm39) |
|
noncoding transcript |
Het |
| Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
| Mbd3 |
A |
T |
10: 80,229,817 (GRCm39) |
L164H |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,502 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,198,292 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
T |
C |
14: 50,377,953 (GRCm39) |
I48V |
probably benign |
Het |
| Or8b1b |
C |
A |
9: 38,375,938 (GRCm39) |
F200L |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,140,426 (GRCm39) |
G685D |
probably benign |
Het |
| Pgc |
A |
G |
17: 48,043,335 (GRCm39) |
I228V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,519,394 (GRCm39) |
S52G |
probably benign |
Het |
| Rad51 |
C |
T |
2: 118,962,049 (GRCm39) |
H199Y |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 74,149,407 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,413 (GRCm39) |
T861I |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,140,844 (GRCm39) |
D1061V |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,383 (GRCm39) |
D266G |
possibly damaging |
Het |
| Snapc3 |
A |
G |
4: 83,336,996 (GRCm39) |
E119G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,464,159 (GRCm39) |
G3862D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,048,699 (GRCm39) |
T318M |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Thsd1 |
T |
C |
8: 22,733,594 (GRCm39) |
Y214H |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,032,264 (GRCm39) |
V98A |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,222,070 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,616,150 (GRCm39) |
V8271L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,603,584 (GRCm39) |
Q599K |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 22,098,932 (GRCm39) |
T434I |
probably benign |
Het |
| Zfy1 |
G |
T |
Y: 725,518 (GRCm39) |
T749K |
possibly damaging |
Het |
|
| Other mutations in Atf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R0455:Atf6
|
UTSW |
1 |
170,662,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TCCCAAATCTCCCAGGGAAG -3'
(R):5'- GGAGGTTACCTTATAACAATCCATGTC -3'
Sequencing Primer
(F):5'- TCTCCCAGGGAAGAAAGCAAGTC -3'
(R):5'- AGTCAGATATGTTGGGCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation