Incidental Mutation 'IGL02738:Ern2'
| ID |
305774 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02738
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121782122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 80
(F80S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033153
AA Change: F80S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: F80S
| 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 |
possibly damaging
Transcript: ENSMUST00000206198
AA Change: F80S
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
A |
T |
2: 150,466,792 (GRCm39) |
|
probably benign |
Het |
| Akr1c21 |
A |
T |
13: 4,630,300 (GRCm39) |
N198Y |
probably damaging |
Het |
| Anapc11 |
A |
T |
11: 120,490,102 (GRCm39) |
K6I |
probably benign |
Het |
| Angel1 |
G |
A |
12: 86,752,060 (GRCm39) |
L554F |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,663,320 (GRCm39) |
*988K |
probably null |
Het |
| Arnt |
T |
A |
3: 95,402,631 (GRCm39) |
|
probably null |
Het |
| Atp1a3 |
T |
A |
7: 24,689,901 (GRCm39) |
D519V |
possibly damaging |
Het |
| Bdp1 |
C |
A |
13: 100,187,861 (GRCm39) |
A1575S |
probably benign |
Het |
| Bglap |
G |
A |
3: 88,291,715 (GRCm39) |
T3I |
unknown |
Het |
| Brca2 |
C |
T |
5: 150,490,500 (GRCm39) |
P3054L |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,662,976 (GRCm39) |
E316* |
probably null |
Het |
| C1qtnf9 |
C |
T |
14: 61,017,388 (GRCm39) |
T306I |
probably benign |
Het |
| Caprin2 |
T |
C |
6: 148,744,360 (GRCm39) |
T1022A |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,598,581 (GRCm39) |
Y940H |
probably damaging |
Het |
| Cd300ld |
A |
G |
11: 114,875,076 (GRCm39) |
L186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,807,618 (GRCm39) |
S1865R |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,386,889 (GRCm39) |
V345A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 31,014,597 (GRCm39) |
E1756A |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,564,720 (GRCm39) |
A2637T |
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,619,322 (GRCm39) |
I439V |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,211 (GRCm39) |
S30A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,887,648 (GRCm39) |
L516P |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,780,989 (GRCm39) |
|
probably benign |
Het |
| Hexim2 |
T |
C |
11: 103,029,103 (GRCm39) |
S52P |
probably damaging |
Het |
| Hoxb9 |
A |
T |
11: 96,165,554 (GRCm39) |
M208L |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lcn10 |
G |
A |
2: 25,574,032 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
G |
8: 26,076,789 (GRCm39) |
I271T |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,685,441 (GRCm39) |
S303G |
possibly damaging |
Het |
| Matn2 |
C |
A |
15: 34,388,885 (GRCm39) |
A325D |
probably benign |
Het |
| Mboat4 |
T |
C |
8: 34,582,258 (GRCm39) |
L4P |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,464,301 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,325,685 (GRCm39) |
R74S |
probably benign |
Het |
| Neb |
G |
T |
2: 52,133,862 (GRCm39) |
Q3374K |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,044,157 (GRCm39) |
E486G |
possibly damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,699 (GRCm39) |
I211T |
possibly damaging |
Het |
| Or4k51 |
A |
C |
2: 111,584,699 (GRCm39) |
Y35S |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,735,293 (GRCm39) |
V35A |
probably benign |
Het |
| Or6c69 |
A |
T |
10: 129,747,200 (GRCm39) |
|
probably benign |
Het |
| Pde8a |
A |
C |
7: 80,976,090 (GRCm39) |
N677H |
probably damaging |
Het |
| Plag1 |
G |
A |
4: 3,903,812 (GRCm39) |
Q460* |
probably null |
Het |
| Podnl1 |
A |
G |
8: 84,858,824 (GRCm39) |
T550A |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,781,382 (GRCm39) |
|
probably benign |
Het |
| Pycr3 |
A |
T |
15: 75,790,565 (GRCm39) |
I98N |
probably damaging |
Het |
| Rtn4r |
A |
G |
16: 17,969,052 (GRCm39) |
Y160C |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,836,940 (GRCm39) |
Y43H |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,365,348 (GRCm39) |
L145Q |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,658,600 (GRCm39) |
S22T |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,696,449 (GRCm39) |
G474V |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,035,447 (GRCm39) |
S18L |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,691,159 (GRCm39) |
E48G |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,931,337 (GRCm39) |
V2083A |
probably benign |
Het |
| Thra |
A |
T |
11: 98,655,185 (GRCm39) |
H355L |
probably benign |
Het |
| Tmem35b |
C |
T |
4: 127,019,981 (GRCm39) |
Q34* |
probably null |
Het |
| Unk |
G |
T |
11: 115,947,017 (GRCm39) |
G537V |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,974,632 (GRCm39) |
D92V |
probably damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,290 (GRCm39) |
Y133* |
probably null |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,630 (GRCm39) |
V313A |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,780,520 (GRCm39) |
I503V |
probably benign |
Het |
| Vwa2 |
G |
A |
19: 56,886,361 (GRCm39) |
G143R |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation