Incidental Mutation 'IGL02141:Atf6b'
ID |
281570 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atf6b
|
Ensembl Gene |
ENSMUSG00000015461 |
Gene Name |
activating transcription factor 6 beta |
Synonyms |
ATF6beta, Creb-rp, Crebl1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.596)
|
Stock # |
IGL02141
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34866120-34874048 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34872251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 539
(H539Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133516
(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: H536Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000015605 Gene: ENSMUSG00000015461 AA Change: H536Q
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: H539Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000133516 Gene: ENSMUSG00000015461 AA Change: H539Q
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
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |