Incidental Mutation 'R6624:Ern2'
ID |
524667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ern2
|
Ensembl Gene |
ENSMUSG00000030866 |
Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
Synonyms |
Ire1b |
MMRRC Submission |
044746-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R6624 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121777006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 305
(A305T)
|
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: A305T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000033153 Gene: ENSMUSG00000030866 AA Change: A305T
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: A305T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (32/32) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
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 |
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 |
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 |
|
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 |
|
Posted On |
2018-06-22 |