Incidental Mutation 'R7969:Atf6b'
| ID |
650522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf6b
|
| Ensembl Gene |
ENSMUSG00000015461 |
| Gene Name |
activating transcription factor 6 beta |
| Synonyms |
Creb-rp, ATF6beta, Crebl1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.582)
|
| Stock # |
R7969 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34647146-34655074 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 34648575 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015605]
[ENSMUST00000015605]
[ENSMUST00000015605]
[ENSMUST00000036720]
[ENSMUST00000173984]
[ENSMUST00000173984]
[ENSMUST00000173984]
[ENSMUST00000174519]
[ENSMUST00000174519]
[ENSMUST00000174519]
[ENSMUST00000174614]
[ENSMUST00000174614]
[ENSMUST00000174614]
[ENSMUST00000174796]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015605
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
| 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 null
Transcript: ENSMUST00000015605
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
| 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 null
Transcript: ENSMUST00000015605
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
| 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 |
probably null
Transcript: ENSMUST00000173984
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
| 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 null
Transcript: ENSMUST00000173984
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
| 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 null
Transcript: ENSMUST00000173984
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
| 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: 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: ENSMUST00000174519
|
| SMART Domains |
Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174796
|
| Meta Mutation Damage Score |
0.9505 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,440,225 |
V4414E |
possibly damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,870,664 |
I193N |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,723,769 |
T345I |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,076,732 |
F337C |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,298,184 |
I488V |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,775,166 |
D375E |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,406,046 |
F279S |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,625,207 |
V95A |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,015,209 |
|
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,417,258 |
F235S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,446,881 |
D427G |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,692,970 |
Y529H |
probably benign |
Het |
| Epx |
C |
T |
11: 87,872,721 |
M224I |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,929,699 |
R101G |
possibly damaging |
Het |
| Fubp1 |
T |
A |
3: 152,222,246 |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,562,306 |
R153* |
probably null |
Het |
| Kcnj12 |
C |
T |
11: 61,069,604 |
Q243* |
probably null |
Het |
| Lrrn1 |
T |
A |
6: 107,567,850 |
V203E |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,409,710 |
S338P |
possibly damaging |
Het |
| Myl10 |
A |
T |
5: 136,700,853 |
|
probably null |
Het |
| Nt5c3b |
T |
C |
11: 100,434,741 |
K120E |
possibly damaging |
Het |
| Olfr118 |
T |
A |
17: 37,672,656 |
L211H |
probably damaging |
Het |
| Olfr790 |
T |
C |
10: 129,501,847 |
L313S |
probably benign |
Het |
| Olfr802 |
G |
A |
10: 129,681,830 |
T303I |
probably benign |
Het |
| Olfr93 |
T |
A |
17: 37,151,186 |
N262I |
possibly damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,036,225 |
S452P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,201,670 |
I2982V |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,587,101 |
R285C |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,620,288 |
D486G |
probably damaging |
Het |
| Rbm27 |
A |
T |
18: 42,275,480 |
|
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,304,036 |
Y1475C |
possibly damaging |
Het |
| Snx14 |
G |
A |
9: 88,413,560 |
T184M |
probably damaging |
Het |
| Tgm5 |
G |
T |
2: 121,075,169 |
N168K |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,424,032 |
V47A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,826,371 |
H3599R |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,215,475 |
E211G |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,730,647 |
H832Q |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,626,034 |
V250D |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,185,824 |
S462P |
unknown |
Het |
|
| Other mutations in Atf6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Atf6b
|
APN |
17 |
34649137 |
missense |
probably damaging |
0.99 |
|
IGL02010:Atf6b
|
APN |
17 |
34654652 |
missense |
probably benign |
0.00 |
|
IGL02023:Atf6b
|
APN |
17 |
34651867 |
missense |
possibly damaging |
0.93 |
|
IGL02141:Atf6b
|
APN |
17 |
34653277 |
missense |
probably benign |
0.01 |
|
IGL02511:Atf6b
|
APN |
17 |
34654641 |
missense |
probably benign |
0.01 |
|
IGL03347:Atf6b
|
APN |
17 |
34653240 |
missense |
probably damaging |
1.00 |
|
R0112:Atf6b
|
UTSW |
17 |
34651626 |
missense |
probably damaging |
0.97 |
|
R0285:Atf6b
|
UTSW |
17 |
34650396 |
unclassified |
probably benign |
|
|
R0544:Atf6b
|
UTSW |
17 |
34648299 |
critical splice donor site |
probably null |
|
|
R1618:Atf6b
|
UTSW |
17 |
34647728 |
nonsense |
probably null |
|
|
R1689:Atf6b
|
UTSW |
17 |
34650302 |
missense |
probably damaging |
0.98 |
|
R1823:Atf6b
|
UTSW |
17 |
34648644 |
missense |
possibly damaging |
0.48 |
|
R1996:Atf6b
|
UTSW |
17 |
34652987 |
critical splice acceptor site |
probably null |
|
|
R2057:Atf6b
|
UTSW |
17 |
34648575 |
critical splice acceptor site |
probably null |
|
|
R2058:Atf6b
|
UTSW |
17 |
34648575 |
critical splice acceptor site |
probably null |
|
|
R2059:Atf6b
|
UTSW |
17 |
34648575 |
critical splice acceptor site |
probably null |
|
|
R4290:Atf6b
|
UTSW |
17 |
34652674 |
missense |
probably benign |
0.00 |
|
R4291:Atf6b
|
UTSW |
17 |
34652674 |
missense |
probably benign |
0.00 |
|
R4293:Atf6b
|
UTSW |
17 |
34652674 |
missense |
probably benign |
0.00 |
|
R4880:Atf6b
|
UTSW |
17 |
34654555 |
missense |
probably damaging |
1.00 |
|
R4893:Atf6b
|
UTSW |
17 |
34648612 |
missense |
probably damaging |
1.00 |
|
R5406:Atf6b
|
UTSW |
17 |
34653797 |
nonsense |
probably null |
|
|
R5549:Atf6b
|
UTSW |
17 |
34651683 |
missense |
probably damaging |
1.00 |
|
R5702:Atf6b
|
UTSW |
17 |
34651004 |
missense |
possibly damaging |
0.93 |
|
R6386:Atf6b
|
UTSW |
17 |
34651851 |
missense |
probably damaging |
0.97 |
|
R6833:Atf6b
|
UTSW |
17 |
34649157 |
missense |
probably damaging |
1.00 |
|
R6834:Atf6b
|
UTSW |
17 |
34649157 |
missense |
probably damaging |
1.00 |
|
R7094:Atf6b
|
UTSW |
17 |
34653816 |
critical splice donor site |
probably null |
|
|
R7205:Atf6b
|
UTSW |
17 |
34653729 |
missense |
probably damaging |
1.00 |
|
R7261:Atf6b
|
UTSW |
17 |
34650818 |
missense |
probably damaging |
0.96 |
|
R8103:Atf6b
|
UTSW |
17 |
34653975 |
missense |
probably damaging |
1.00 |
|
R8179:Atf6b
|
UTSW |
17 |
34653994 |
missense |
probably damaging |
0.99 |
|
R8355:Atf6b
|
UTSW |
17 |
34648223 |
missense |
probably benign |
0.01 |
|
R8455:Atf6b
|
UTSW |
17 |
34648223 |
missense |
probably benign |
0.01 |
|
R8499:Atf6b
|
UTSW |
17 |
34650822 |
missense |
probably damaging |
1.00 |
|
R8685:Atf6b
|
UTSW |
17 |
34650346 |
missense |
probably benign |
0.18 |
|
R9273:Atf6b
|
UTSW |
17 |
34653994 |
missense |
probably damaging |
0.99 |
|
R9633:Atf6b
|
UTSW |
17 |
34653533 |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAACATCCCTGTGTGCTC -3'
(R):5'- GCATGTTCAAAAGGCCCCTG -3'
Sequencing Primer
(F):5'- TCCCTGTGATCCCTGGGG -3'
(R):5'- ATGTTCAAAAGGCCCCTGTCTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation