Incidental Mutation 'R4303:Ern2'
| ID |
322500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
041090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 121777069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033153
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
| 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
|
| Meta Mutation Damage Score |
0.9480 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
| Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
| Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
| Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
| Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,994,239 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,852 (GRCm39) |
V193E |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
| Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
| Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
| Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,143,704 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
| Tax1bp1 |
T |
C |
6: 52,704,263 (GRCm39) |
V81A |
possibly damaging |
Het |
| Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
| Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
| Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
| Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,609,657 (GRCm39) |
K689N |
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 |
|
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'- CGGGGCTATGGCAGAAGAT -3'
(R):5'- CAAAGACTGAGTTCTTACTGAGGTCT -3'
Sequencing Primer
(F):5'- ATGGAGAGTCGCATGTGC -3'
(R):5'- AGAGTAGGCTTCCTTACCCGGTAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation