Incidental Mutation 'R4291:Atf6b'
| ID |
323092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf6b
|
| Ensembl Gene |
ENSMUSG00000015461 |
| Gene Name |
activating transcription factor 6 beta |
| Synonyms |
ATF6beta, Creb-rp, Crebl1 |
| MMRRC Submission |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34866120-34874048 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34871648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 428
(M428K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015605]
[ENSMUST00000173984]
[ENSMUST00000174519]
[ENSMUST00000174614]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015605
AA Change: M428K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: M428K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
113 |
156 |
2.55e-13 |
PROSPERO |
|
low complexity region
|
162 |
180 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
186 |
230 |
2.55e-13 |
PROSPERO |
|
low complexity region
|
238 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
|
BRLZ
|
320 |
384 |
7.08e-15 |
SMART |
|
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173984
AA Change: M431K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: M431K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
113 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
116 |
159 |
2.54e-13 |
PROSPERO |
|
low complexity region
|
165 |
183 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
189 |
233 |
2.54e-13 |
PROSPERO |
|
low complexity region
|
241 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
BRLZ
|
323 |
387 |
2.9e-17 |
SMART |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174519
|
| SMART Domains |
Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174614
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased cellular sensitivity to thapsigargin and tunicamycin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
possibly damaging |
Het |
|
| Other mutations in Atf6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Atf6b
|
APN |
17 |
34,868,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02010:Atf6b
|
APN |
17 |
34,873,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02023:Atf6b
|
APN |
17 |
34,870,841 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02141:Atf6b
|
APN |
17 |
34,872,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02511:Atf6b
|
APN |
17 |
34,873,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03347:Atf6b
|
APN |
17 |
34,872,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Atf6b
|
UTSW |
17 |
34,870,600 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0285:Atf6b
|
UTSW |
17 |
34,869,370 (GRCm39) |
unclassified |
probably benign |
|
|
R0544:Atf6b
|
UTSW |
17 |
34,867,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1618:Atf6b
|
UTSW |
17 |
34,866,702 (GRCm39) |
nonsense |
probably null |
|
|
R1689:Atf6b
|
UTSW |
17 |
34,869,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1823:Atf6b
|
UTSW |
17 |
34,867,618 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1996:Atf6b
|
UTSW |
17 |
34,871,961 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2057:Atf6b
|
UTSW |
17 |
34,867,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2058:Atf6b
|
UTSW |
17 |
34,867,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2059:Atf6b
|
UTSW |
17 |
34,867,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4290:Atf6b
|
UTSW |
17 |
34,871,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4293:Atf6b
|
UTSW |
17 |
34,871,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4880:Atf6b
|
UTSW |
17 |
34,873,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Atf6b
|
UTSW |
17 |
34,867,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Atf6b
|
UTSW |
17 |
34,872,771 (GRCm39) |
nonsense |
probably null |
|
|
R5549:Atf6b
|
UTSW |
17 |
34,870,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Atf6b
|
UTSW |
17 |
34,869,978 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6386:Atf6b
|
UTSW |
17 |
34,870,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6833:Atf6b
|
UTSW |
17 |
34,868,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Atf6b
|
UTSW |
17 |
34,868,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Atf6b
|
UTSW |
17 |
34,872,790 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7205:Atf6b
|
UTSW |
17 |
34,872,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Atf6b
|
UTSW |
17 |
34,869,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7969:Atf6b
|
UTSW |
17 |
34,867,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8103:Atf6b
|
UTSW |
17 |
34,872,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Atf6b
|
UTSW |
17 |
34,872,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Atf6b
|
UTSW |
17 |
34,867,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8455:Atf6b
|
UTSW |
17 |
34,867,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8499:Atf6b
|
UTSW |
17 |
34,869,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Atf6b
|
UTSW |
17 |
34,869,320 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9273:Atf6b
|
UTSW |
17 |
34,872,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9633:Atf6b
|
UTSW |
17 |
34,872,507 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCTGTGAGATTGGCATC -3'
(R):5'- GCAGGCTTTAGGAAGATGACTC -3'
Sequencing Primer
(F):5'- GACCTGTGAGATTGGCATCCTCTC -3'
(R):5'- AGGCTTTAGGAAGATGACTCCTTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation