Incidental Mutation 'IGL01060:Ern2'
ID |
51412 |
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 # |
IGL01060
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121769315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 904
(R904W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000033154]
[ENSMUST00000206198]
|
AlphaFold |
Q9Z2E3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033153
AA Change: R904W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000033153 Gene: ENSMUSG00000030866 AA Change: R904W
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206202
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
Het |
|
Other mutations in Ern2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |