Incidental Mutation 'R7094:Atf6b'
| ID |
550389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf6b
|
| Ensembl Gene |
ENSMUSG00000015461 |
| Gene Name |
activating transcription factor 6 beta |
| Synonyms |
ATF6beta, Creb-rp, Crebl1 |
| MMRRC Submission |
045187-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R7094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34866120-34874048 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 34872790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 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: 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 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 |
0.9595 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,610 (GRCm39) |
I2786F |
probably damaging |
Het |
| Actl6a |
A |
T |
3: 32,760,487 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
G |
13: 12,324,543 (GRCm39) |
V100A |
probably damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,187 (GRCm39) |
A613E |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,663,681 (GRCm39) |
E240V |
probably null |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,871,797 (GRCm39) |
R829L |
possibly damaging |
Het |
| Ccdc85c |
GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC |
GCCGCCGCCGCCAGCGCC |
12: 108,240,877 (GRCm39) |
|
probably null |
Het |
| Cd209g |
T |
C |
8: 4,186,790 (GRCm39) |
F112L |
possibly damaging |
Het |
| Cebpe |
C |
T |
14: 54,948,060 (GRCm39) |
R261H |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,436 (GRCm39) |
E68G |
|
Het |
| Chd9 |
A |
G |
8: 91,716,189 (GRCm39) |
N921S |
unknown |
Het |
| Chil6 |
T |
C |
3: 106,311,486 (GRCm39) |
N98S |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,761,333 (GRCm39) |
K734E |
probably benign |
Het |
| Cracd |
C |
T |
5: 77,006,879 (GRCm39) |
P1080L |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,507 (GRCm39) |
F204S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,482 (GRCm39) |
T4418A |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,077,184 (GRCm39) |
V649A |
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,683 (GRCm39) |
V270M |
possibly damaging |
Het |
| Eva1a |
C |
T |
6: 82,069,024 (GRCm39) |
T117I |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,023 (GRCm39) |
G972D |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,138 (GRCm39) |
N39K |
probably damaging |
Het |
| Gm5565 |
T |
C |
5: 146,095,084 (GRCm39) |
T221A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,215,366 (GRCm39) |
V29G |
possibly damaging |
Het |
| Grem2 |
T |
C |
1: 174,664,555 (GRCm39) |
Y98C |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,012 (GRCm39) |
I506N |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,545,017 (GRCm39) |
Y195F |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,576,098 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,288,650 (GRCm39) |
L832P |
probably damaging |
Het |
| Lipo5 |
T |
A |
19: 33,446,249 (GRCm39) |
E49D |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,414,126 (GRCm39) |
Y767* |
probably null |
Het |
| Map2 |
G |
T |
1: 66,451,886 (GRCm39) |
E259* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,496,253 (GRCm39) |
D310G |
probably damaging |
Het |
| Mink1 |
C |
A |
11: 70,500,901 (GRCm39) |
|
probably null |
Het |
| Mtrr |
T |
C |
13: 68,727,803 (GRCm39) |
T48A |
possibly damaging |
Het |
| Nrsn1 |
A |
T |
13: 25,437,724 (GRCm39) |
I68N |
possibly damaging |
Het |
| Or1ab2 |
A |
T |
8: 72,863,347 (GRCm39) |
|
probably benign |
Het |
| Or4a71 |
A |
T |
2: 89,357,902 (GRCm39) |
I284K |
probably damaging |
Het |
| Or51f23b |
A |
G |
7: 102,402,305 (GRCm39) |
M277T |
probably benign |
Het |
| Or5p60 |
G |
T |
7: 107,723,840 (GRCm39) |
T210N |
probably benign |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,672 (GRCm39) |
N81S |
unknown |
Het |
| Pcdh17 |
A |
G |
14: 84,684,835 (GRCm39) |
D434G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,328,430 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,552,096 (GRCm39) |
E121G |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,863,118 (GRCm39) |
S24G |
probably benign |
Het |
| Slc39a2 |
G |
T |
14: 52,131,146 (GRCm39) |
|
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,918,268 (GRCm39) |
P631S |
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,923,482 (GRCm39) |
V265A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,542 (GRCm39) |
N103S |
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,942,300 (GRCm39) |
T684A |
possibly damaging |
Het |
| Tgm7 |
C |
T |
2: 120,929,489 (GRCm39) |
G262S |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,008,148 (GRCm39) |
S451T |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,173,788 (GRCm39) |
Y240C |
probably benign |
Het |
| Trio |
A |
T |
15: 27,891,534 (GRCm39) |
C465S |
unknown |
Het |
| Ttc22 |
G |
A |
4: 106,493,104 (GRCm39) |
W250* |
probably null |
Het |
| Upb1 |
C |
A |
10: 75,274,042 (GRCm39) |
F356L |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,573 (GRCm39) |
M419K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,990 (GRCm39) |
|
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,246 (GRCm39) |
T361A |
probably benign |
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 |
|
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'- AGGAGGACACTGCTGTTGTTC -3'
(R):5'- CATAGCCAGAGGGAGAATTACC -3'
Sequencing Primer
(F):5'- ACACTGCTGTTGTTCCGGAG -3'
(R):5'- AATTACCATTGGGGGCCATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation