Incidental Mutation 'R8685:Atf6b'
| ID |
662012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf6b
|
| Ensembl Gene |
ENSMUSG00000015461 |
| Gene Name |
activating transcription factor 6 beta |
| Synonyms |
ATF6beta, Creb-rp, Crebl1 |
| MMRRC Submission |
068540-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R8685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34866120-34874048 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34869320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 179
(H179R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015605]
[ENSMUST00000036720]
[ENSMUST00000173984]
[ENSMUST00000174519]
[ENSMUST00000174614]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015605
AA Change: H179R
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: H179R
| 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: ENSMUST00000036720
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
208 |
241 |
2.92e1 |
SMART |
|
TPR
|
250 |
283 |
4.77e-2 |
SMART |
|
TPR
|
284 |
317 |
1.89e-5 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: H182R
| 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 |
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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,862,140 (GRCm39) |
Y50C |
probably damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,874,708 (GRCm39) |
D1002Y |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,042 (GRCm39) |
R426H |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,247,138 (GRCm39) |
T121A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,380,672 (GRCm39) |
Y1787C |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,746 (GRCm39) |
S104T |
possibly damaging |
Het |
| Cdh10 |
T |
A |
15: 18,899,851 (GRCm39) |
N59K |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,433,867 (GRCm39) |
R431H |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dcpp3 |
T |
C |
17: 24,138,096 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,687,161 (GRCm39) |
T1262A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,881,628 (GRCm39) |
E900G |
possibly damaging |
Het |
| Dtx4 |
C |
T |
19: 12,446,995 (GRCm39) |
D566N |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,474,594 (GRCm39) |
N339K |
possibly damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,816 (GRCm39) |
R101S |
unknown |
Het |
| Hk1 |
T |
C |
10: 62,132,453 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,205 (GRCm39) |
S148T |
unknown |
Het |
| Hyls1 |
A |
G |
9: 35,472,724 (GRCm39) |
Y231H |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,726,297 (GRCm39) |
Y97F |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,109,288 (GRCm39) |
T1168K |
probably benign |
Het |
| Larp6 |
A |
T |
9: 60,631,495 (GRCm39) |
D89V |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,745,520 (GRCm39) |
T1953A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,192,229 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,746,334 (GRCm39) |
D266G |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,036 (GRCm39) |
M22K |
probably benign |
Het |
| Niban2 |
T |
G |
2: 32,809,101 (GRCm39) |
L229R |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,410,904 (GRCm39) |
I215F |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,003 (GRCm39) |
V495E |
probably damaging |
Het |
| Per2 |
T |
G |
1: 91,378,402 (GRCm39) |
D49A |
possibly damaging |
Het |
| Plau |
G |
A |
14: 20,889,627 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
A |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Pnma8b |
T |
A |
7: 16,679,965 (GRCm39) |
D316E |
unknown |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,436 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,474,161 (GRCm39) |
V288A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,245,556 (GRCm39) |
V513A |
possibly damaging |
Het |
| Smarcd3 |
G |
A |
5: 24,800,988 (GRCm39) |
R140W |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,585,380 (GRCm39) |
R440G |
unknown |
Het |
| Tpsg1 |
A |
T |
17: 25,592,241 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Trbv26 |
C |
A |
6: 41,204,693 (GRCm39) |
A38E |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,198,401 (GRCm39) |
N1488K |
probably damaging |
Het |
| Vill |
A |
T |
9: 118,895,795 (GRCm39) |
R502S |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,584,754 (GRCm39) |
L861* |
probably null |
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 |
|
R4291: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 |
|
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'- TTTATCTGCCAGCCAACTGC -3'
(R):5'- CCTCTCCTATAAAAGGCTGTGC -3'
Sequencing Primer
(F):5'- AGGGCATTACTGACAGCTGTTAGC -3'
(R):5'- TCCTATAAAAGGCTGTGCAGGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation