Incidental Mutation 'R3945:Ern2'
ID |
307649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ern2
|
Ensembl Gene |
ENSMUSG00000030866 |
Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
Synonyms |
Ire1b |
MMRRC Submission |
040926-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R3945 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121775753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 447
(M447T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000206198]
|
AlphaFold |
Q9Z2E3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033153
AA Change: M447T
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000033153 Gene: ENSMUSG00000030866 AA Change: M447T
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: ENSMUST00000206198
AA Change: M447T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Meta Mutation Damage Score |
0.0729 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (54/54) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,601 (GRCm39) |
L1166P |
probably damaging |
Het |
Actn4 |
T |
C |
7: 28,611,661 (GRCm39) |
|
probably null |
Het |
Adamts17 |
A |
T |
7: 66,770,687 (GRCm39) |
E905V |
probably benign |
Het |
Adck5 |
A |
G |
15: 76,479,400 (GRCm39) |
N485S |
probably damaging |
Het |
Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
A |
17: 66,283,098 (GRCm39) |
T1921I |
probably damaging |
Het |
Ascl2 |
T |
C |
7: 142,521,708 (GRCm39) |
S247G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,880 (GRCm39) |
E422G |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,180,790 (GRCm39) |
I2229T |
probably damaging |
Het |
C630050I24Rik |
C |
T |
8: 107,845,894 (GRCm39) |
R15* |
probably null |
Het |
Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
Chrne |
T |
C |
11: 70,507,869 (GRCm39) |
I277V |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
Corin |
A |
G |
5: 72,515,767 (GRCm39) |
V429A |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,279,281 (GRCm39) |
N219K |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,821,556 (GRCm39) |
E273G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 15,960,619 (GRCm39) |
|
probably null |
Het |
Ddx59 |
A |
G |
1: 136,362,356 (GRCm39) |
D527G |
probably damaging |
Het |
Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
Efs |
A |
G |
14: 55,158,108 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,779,485 (GRCm39) |
E596K |
possibly damaging |
Het |
Filip1 |
T |
C |
9: 79,725,649 (GRCm39) |
K990R |
probably benign |
Het |
Ipo8 |
T |
A |
6: 148,719,615 (GRCm39) |
Q110L |
probably damaging |
Het |
Kank4 |
T |
A |
4: 98,659,517 (GRCm39) |
I854F |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,962,052 (GRCm39) |
C681Y |
probably damaging |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,786 (GRCm39) |
E270G |
probably benign |
Het |
Or4f4b |
C |
T |
2: 111,314,032 (GRCm39) |
Q86* |
probably null |
Het |
Pde11a |
T |
C |
2: 75,906,275 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
G |
A |
14: 59,462,225 (GRCm39) |
|
probably null |
Het |
Rpl37 |
G |
A |
15: 5,147,176 (GRCm39) |
R72H |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,377,029 (GRCm39) |
S77R |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,460,067 (GRCm39) |
D218G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
Spen |
T |
C |
4: 141,204,664 (GRCm39) |
D1321G |
unknown |
Het |
Ssh2 |
T |
C |
11: 77,345,494 (GRCm39) |
S1160P |
possibly damaging |
Het |
Synrg |
T |
A |
11: 83,914,232 (GRCm39) |
D952E |
probably damaging |
Het |
Tigd3 |
A |
G |
19: 5,942,461 (GRCm39) |
F223S |
probably damaging |
Het |
Trim66 |
G |
A |
7: 109,071,475 (GRCm39) |
T608I |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,737,486 (GRCm39) |
I800T |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,370,184 (GRCm39) |
I443F |
possibly damaging |
Het |
Vamp2 |
C |
A |
11: 68,980,000 (GRCm39) |
P24Q |
unknown |
Het |
Vmn1r113 |
A |
G |
7: 20,521,637 (GRCm39) |
Y143C |
probably benign |
Het |
Vmn1r14 |
T |
A |
6: 57,211,254 (GRCm39) |
N277K |
probably benign |
Het |
Vmn1r181 |
T |
A |
7: 23,683,577 (GRCm39) |
V14E |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,688,352 (GRCm39) |
I3086N |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
R0785:Ern2
|
UTSW |
7 |
121,770,884 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- TGAGCATCCTGTGAGAGGTCAG -3'
(R):5'- GGAGGAAGCTTTCACCACAAG -3'
Sequencing Primer
(F):5'- TTAGTGGGTGCCAGCCTTCC -3'
(R):5'- CAAGTGAAACCTGCTTTGTTCCTAG -3'
|
Posted On |
2015-04-17 |