Incidental Mutation 'R8929:Ern2'
| ID |
679745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
068773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8929 (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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
A |
G |
2: 179,814,730 (GRCm39) |
K99E |
unknown |
Het |
| Agxt2 |
C |
A |
15: 10,393,830 (GRCm39) |
L375I |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,258,752 (GRCm39) |
S459P |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,479,203 (GRCm39) |
T1471S |
probably damaging |
Het |
| Atxn2l |
C |
G |
7: 126,092,928 (GRCm39) |
|
probably benign |
Het |
| Azi2 |
C |
A |
9: 117,879,044 (GRCm39) |
T141K |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,422 (GRCm39) |
S369P |
possibly damaging |
Het |
| BC051019 |
C |
T |
7: 109,315,233 (GRCm39) |
E341K |
probably damaging |
Het |
| Bdh1 |
G |
A |
16: 31,275,712 (GRCm39) |
D278N |
probably benign |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,578,825 (GRCm39) |
D205E |
probably damaging |
Het |
| Clec4b1 |
G |
T |
6: 123,046,728 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
C |
17: 72,138,203 (GRCm39) |
L467S |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,298 (GRCm39) |
I154T |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,546,977 (GRCm39) |
N179S |
possibly damaging |
Het |
| Dpf1 |
A |
T |
7: 29,009,174 (GRCm39) |
I100F |
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,165 (GRCm39) |
S46P |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,511,607 (GRCm39) |
D200G |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,596,253 (GRCm39) |
S112N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,366 (GRCm39) |
V3462A |
probably damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,138 (GRCm39) |
I733T |
probably damaging |
Het |
| Gdf3 |
C |
T |
6: 122,586,756 (GRCm39) |
R57Q |
|
Het |
| Grwd1 |
A |
T |
7: 45,480,056 (GRCm39) |
D50E |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,798,988 (GRCm39) |
D339Y |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,196,982 (GRCm39) |
D19G |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,765,290 (GRCm39) |
E286G |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,819 (GRCm39) |
F507L |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,174,643 (GRCm39) |
K247E |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,754,017 (GRCm38) |
T1298S |
possibly damaging |
Het |
| Muc4 |
T |
G |
16: 32,575,285 (GRCm39) |
I1290S |
probably benign |
Het |
| Nars1 |
G |
T |
18: 64,644,895 (GRCm39) |
H82Q |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,415,983 (GRCm39) |
E1121V |
probably damaging |
Het |
| Nebl |
C |
A |
2: 17,397,991 (GRCm39) |
E481* |
probably null |
Het |
| Pdap1 |
T |
C |
5: 145,069,672 (GRCm39) |
E111G |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,379 (GRCm39) |
F67S |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,445,654 (GRCm39) |
F510S |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,396 (GRCm39) |
Y524N |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,595,278 (GRCm39) |
M887K |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,803,507 (GRCm39) |
D414G |
possibly damaging |
Het |
| Sema5b |
C |
A |
16: 35,467,737 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,923,164 (GRCm39) |
T252S |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,028,137 (GRCm39) |
F164S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,964 (GRCm39) |
H90R |
unknown |
Het |
| Slc44a4 |
A |
T |
17: 35,136,508 (GRCm39) |
D58V |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,006,617 (GRCm39) |
T340A |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,233,974 (GRCm39) |
N195K |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,035,979 (GRCm39) |
S572P |
possibly damaging |
Het |
| Sytl2 |
C |
T |
7: 90,024,810 (GRCm39) |
A266V |
probably benign |
Het |
| Tbx15 |
T |
A |
3: 99,222,219 (GRCm39) |
D227E |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,882,308 (GRCm39) |
V26A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,208,003 (GRCm39) |
F1749L |
possibly damaging |
Het |
| Trpc6 |
A |
G |
9: 8,643,411 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,706,924 (GRCm39) |
I9089N |
unknown |
Het |
| Tut7 |
A |
G |
13: 59,947,942 (GRCm39) |
V793A |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,103,835 (GRCm39) |
T866A |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,494 (GRCm39) |
S280C |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,541 (GRCm39) |
T847A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 30,000,881 (GRCm39) |
L180P |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,682,732 (GRCm39) |
Y403S |
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 |
|
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 |
|
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'- CATTAACAGCCTGAGTCCCTTAG -3'
(R):5'- CAAGGTATGTTCTAGAGCCCGG -3'
Sequencing Primer
(F):5'- GTCCCTTAGACCGCTGCC -3'
(R):5'- ACCTATCAGGGATGGTCTGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation