Incidental Mutation 'R8931:Ern2'
| ID |
680311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
068775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8931 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121769363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 888
(A888T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000033154]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033153
AA Change: A888T
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: A888T
| 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
|
| Meta Mutation Damage Score |
0.0886 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
C |
17: 13,147,405 (GRCm39) |
P204R |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,803 (GRCm39) |
I250T |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| BC051019 |
T |
C |
7: 109,315,286 (GRCm39) |
E323G |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,184,943 (GRCm39) |
N2S |
possibly damaging |
Het |
| Calm3 |
G |
C |
7: 16,651,398 (GRCm39) |
F66L |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,338,704 (GRCm39) |
T191S |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,770,323 (GRCm39) |
S104T |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,597,377 (GRCm39) |
C389S |
probably benign |
Het |
| Clhc1 |
C |
T |
11: 29,510,533 (GRCm39) |
Q195* |
probably null |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,808 (GRCm39) |
L350P |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,271,238 (GRCm39) |
E306G |
possibly damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,864 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ephx2 |
G |
T |
14: 66,322,441 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,246,072 (GRCm39) |
I973F |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,095 (GRCm39) |
I1259M |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,421,060 (GRCm39) |
H92R |
probably benign |
Het |
| Gm13283 |
A |
C |
4: 88,679,516 (GRCm39) |
D169A |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,470 (GRCm39) |
L397P |
probably benign |
Het |
| H4c11 |
T |
A |
13: 21,919,369 (GRCm39) |
I35N |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,460,297 (GRCm39) |
|
probably benign |
Het |
| Hmgcs2 |
C |
T |
3: 98,203,557 (GRCm39) |
A222V |
probably damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,712 (GRCm39) |
T102I |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,674,995 (GRCm39) |
S387P |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,643,108 (GRCm39) |
V45M |
probably damaging |
Het |
| Mc3r |
A |
T |
2: 172,091,515 (GRCm39) |
I246F |
possibly damaging |
Het |
| Mug1 |
G |
C |
6: 121,861,296 (GRCm39) |
A1306P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,020 (GRCm39) |
E260G |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,582,395 (GRCm39) |
Y565H |
probably damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,950 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Nop58 |
G |
A |
1: 59,731,549 (GRCm39) |
|
probably null |
Het |
| Or6c33 |
A |
T |
10: 129,853,769 (GRCm39) |
T180S |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,550 (GRCm39) |
T9S |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,855,920 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
A |
14: 80,006,971 (GRCm39) |
Q531* |
probably null |
Het |
| Pik3c2g |
A |
G |
6: 139,821,093 (GRCm39) |
T297A |
probably benign |
Het |
| Poc1b |
T |
C |
10: 99,028,861 (GRCm39) |
|
probably null |
Het |
| Prb1c |
G |
A |
6: 132,338,897 (GRCm39) |
P107L |
|
Het |
| Prokr2 |
A |
G |
2: 132,215,996 (GRCm39) |
V155A |
possibly damaging |
Het |
| Rce1 |
C |
T |
19: 4,674,094 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
T |
6: 23,654,704 (GRCm39) |
N97K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,899,723 (GRCm39) |
S1315P |
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,107,140 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc25a2 |
C |
A |
18: 37,771,089 (GRCm39) |
G147C |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,983 (GRCm39) |
P303Q |
|
Het |
| Sod2 |
T |
C |
17: 13,227,193 (GRCm39) |
L49P |
probably damaging |
Het |
| Tbc1d12 |
T |
C |
19: 38,854,098 (GRCm39) |
V260A |
probably benign |
Het |
| Tcte2 |
C |
A |
17: 13,933,410 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,637 (GRCm39) |
T2317A |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,402,298 (GRCm39) |
I500V |
possibly damaging |
Het |
| Trav14-3 |
C |
A |
14: 54,001,112 (GRCm39) |
Q108K |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,364 (GRCm39) |
Y54H |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,744,034 (GRCm39) |
V337E |
probably damaging |
Het |
| Tsbp1 |
T |
C |
17: 34,659,328 (GRCm39) |
|
probably benign |
Het |
| Uox |
A |
T |
3: 146,318,047 (GRCm39) |
I14F |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,065,421 (GRCm39) |
V1249A |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,194 (GRCm39) |
Y97H |
probably damaging |
Het |
| Zfp536 |
G |
T |
7: 37,268,721 (GRCm39) |
Q232K |
probably benign |
Het |
| Zng1 |
T |
G |
19: 24,932,780 (GRCm39) |
K84N |
probably 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 |
|
|
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 |
|
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'- CATTAACAGCCTGAGTCCCTTAGAC -3'
(R):5'- AGGTATGTTCTAGAGCCCGG -3'
Sequencing Primer
(F):5'- GTCCCTTAGACCGCTGCC -3'
(R):5'- ACCTATCAGGGATGGTCTGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation