Incidental Mutation 'R0785:Ern2'
| ID |
76821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
038965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 121770884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000033153]
[ENSMUST00000033154]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033153
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
PQQ
|
33 |
64 |
5.5e-8 |
SMART |
|
PQQ
|
115 |
147 |
4.7e-4 |
SMART |
|
PQQ
|
148 |
180 |
6.1e-2 |
SMART |
|
PQQ
|
192 |
223 |
6.2e-3 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
S_TKc
|
508 |
768 |
2.5e-11 |
SMART |
|
PUG
|
831 |
888 |
9e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000033153
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
PQQ
|
33 |
64 |
5.5e-8 |
SMART |
|
PQQ
|
115 |
147 |
4.7e-4 |
SMART |
|
PQQ
|
148 |
180 |
6.1e-2 |
SMART |
|
PQQ
|
192 |
223 |
6.2e-3 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
S_TKc
|
508 |
768 |
2.5e-11 |
SMART |
|
PUG
|
831 |
888 |
9e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033154
|
| SMART Domains |
Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
S_TKc
|
53 |
305 |
7.36e-95 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
418 |
479 |
4.4e-24 |
PFAM |
|
Pfam:POLO_box
|
516 |
583 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206202
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
| Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
| Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
| Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
| Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
| Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
| Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
| Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
| Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
| Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
| Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
| Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
| Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
| Other mutations in Ern2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Ern2
|
APN |
7 |
121,769,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01324:Ern2
|
APN |
7 |
121,782,413 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02185:Ern2
|
APN |
7 |
121,772,598 (GRCm39) |
splice site |
probably benign |
|
|
IGL02738:Ern2
|
APN |
7 |
121,782,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Ern2
|
APN |
7 |
121,780,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL03247:Ern2
|
APN |
7 |
121,770,894 (GRCm39) |
missense |
probably benign |
0.02 |
|
ernie
|
UTSW |
7 |
121,770,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
Ernie2
|
UTSW |
7 |
121,780,085 (GRCm39) |
splice site |
probably benign |
|
|
ernie3
|
UTSW |
7 |
121,773,042 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0165:Ern2
|
UTSW |
7 |
121,779,002 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0801:Ern2
|
UTSW |
7 |
121,780,085 (GRCm39) |
splice site |
probably benign |
|
|
R1345:Ern2
|
UTSW |
7 |
121,776,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Ern2
|
UTSW |
7 |
121,776,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Ern2
|
UTSW |
7 |
121,773,043 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1747:Ern2
|
UTSW |
7 |
121,773,042 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1846:Ern2
|
UTSW |
7 |
121,775,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1899:Ern2
|
UTSW |
7 |
121,783,065 (GRCm39) |
splice site |
probably benign |
|
|
R1986:Ern2
|
UTSW |
7 |
121,770,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2055:Ern2
|
UTSW |
7 |
121,783,168 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2329:Ern2
|
UTSW |
7 |
121,772,710 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2351:Ern2
|
UTSW |
7 |
121,770,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2894:Ern2
|
UTSW |
7 |
121,780,810 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3176:Ern2
|
UTSW |
7 |
121,780,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3276:Ern2
|
UTSW |
7 |
121,780,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3945:Ern2
|
UTSW |
7 |
121,775,753 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4303:Ern2
|
UTSW |
7 |
121,777,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4874:Ern2
|
UTSW |
7 |
121,775,810 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4943:Ern2
|
UTSW |
7 |
121,772,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5184:Ern2
|
UTSW |
7 |
121,779,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5629:Ern2
|
UTSW |
7 |
121,769,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Ern2
|
UTSW |
7 |
121,779,130 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6255:Ern2
|
UTSW |
7 |
121,772,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Ern2
|
UTSW |
7 |
121,775,869 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6277:Ern2
|
UTSW |
7 |
121,785,330 (GRCm39) |
missense |
probably benign |
|
|
R6624:Ern2
|
UTSW |
7 |
121,777,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6940:Ern2
|
UTSW |
7 |
121,785,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7491:Ern2
|
UTSW |
7 |
121,769,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Ern2
|
UTSW |
7 |
121,772,422 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7555:Ern2
|
UTSW |
7 |
121,769,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Ern2
|
UTSW |
7 |
121,772,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Ern2
|
UTSW |
7 |
121,769,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Ern2
|
UTSW |
7 |
121,772,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Ern2
|
UTSW |
7 |
121,780,515 (GRCm39) |
nonsense |
probably null |
|
|
R8548:Ern2
|
UTSW |
7 |
121,777,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Ern2
|
UTSW |
7 |
121,772,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Ern2
|
UTSW |
7 |
121,769,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8931:Ern2
|
UTSW |
7 |
121,769,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9088:Ern2
|
UTSW |
7 |
121,772,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Ern2
|
UTSW |
7 |
121,776,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9789:Ern2
|
UTSW |
7 |
121,769,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTCCCAAGATCATCTAACCTGG -3'
(R):5'- CAGAGGGACTTTAGCAAGGCTCAC -3'
Sequencing Primer
(F):5'- TTAGCTCTGCTCCAAAAGAGG -3'
(R):5'- AGCAAGGCTCACTTCCTCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation