Incidental Mutation 'IGL02023:Atf6b'
| ID |
184046 |
| 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 # |
IGL02023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34866120-34874048 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34870841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 401
(V401A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000015605
AA Change: V401A
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: V401A
| 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: V404A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: V404A
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,953,942 (GRCm39) |
K833E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,519 (GRCm39) |
I312V |
probably benign |
Het |
| Adcy8 |
T |
A |
15: 64,694,069 (GRCm39) |
I403F |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,010 (GRCm39) |
N444K |
probably damaging |
Het |
| Ang4 |
T |
C |
14: 52,001,511 (GRCm39) |
|
probably benign |
Het |
| Atp7a |
A |
T |
X: 105,138,588 (GRCm39) |
I604F |
probably damaging |
Het |
| Cd151 |
T |
C |
7: 141,050,370 (GRCm39) |
Y202H |
probably damaging |
Het |
| Cd99l2 |
A |
T |
X: 70,493,552 (GRCm39) |
N64K |
possibly damaging |
Het |
| Cog7 |
C |
T |
7: 121,543,000 (GRCm39) |
|
probably null |
Het |
| Decr2 |
A |
T |
17: 26,306,354 (GRCm39) |
M94K |
probably benign |
Het |
| Dock11 |
A |
T |
X: 35,232,422 (GRCm39) |
H188L |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,602,397 (GRCm39) |
S682G |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
G |
T |
14: 57,273,136 (GRCm39) |
P412Q |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,758,262 (GRCm39) |
N333D |
probably benign |
Het |
| Gpr65 |
T |
A |
12: 98,242,127 (GRCm39) |
V260D |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,485,604 (GRCm39) |
E264G |
possibly damaging |
Het |
| Hsph1 |
T |
C |
5: 149,557,324 (GRCm39) |
R46G |
probably damaging |
Het |
| Hycc2 |
G |
A |
1: 58,569,274 (GRCm39) |
A435V |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,841,725 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,494 (GRCm39) |
H35R |
probably damaging |
Het |
| Mfge8 |
C |
T |
7: 78,794,985 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,214,045 (GRCm39) |
Y9* |
probably null |
Het |
| Mpdz |
A |
T |
4: 81,247,766 (GRCm39) |
I1074N |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,772,453 (GRCm39) |
|
noncoding transcript |
Het |
| Nbea |
A |
T |
3: 55,588,437 (GRCm39) |
M2434K |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,245,078 (GRCm39) |
L540P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,121,858 (GRCm39) |
R554G |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,032 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,443,158 (GRCm39) |
S231T |
probably benign |
Het |
| Osbpl10 |
T |
A |
9: 115,055,790 (GRCm39) |
V654D |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,314 (GRCm39) |
G105V |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,616 (GRCm39) |
V200A |
probably damaging |
Het |
| Ppard |
A |
G |
17: 28,517,871 (GRCm39) |
H313R |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,838,335 (GRCm39) |
L103P |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,431 (GRCm39) |
L104Q |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,704 (GRCm39) |
V2253A |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,668,607 (GRCm39) |
S43P |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,707,695 (GRCm39) |
G1742V |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,915,804 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,999 (GRCm39) |
N14902S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,465,711 (GRCm39) |
T2760A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,388 (GRCm39) |
N398D |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation