Incidental Mutation 'IGL03153:Ern1'
| ID |
411173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ern1
|
| Ensembl Gene |
ENSMUSG00000020715 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 1 |
| Synonyms |
Ire1p, 9030414B18Rik, Ire1a, Ire1alpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106300924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 490
(L490P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001059]
[ENSMUST00000106801]
|
| AlphaFold |
Q9EQY0 |
| PDB Structure |
Crystal structure of murine IRE1 in complex with MKC9989 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR464 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR573 inhibitor [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001059
AA Change: L490P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: L490P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
PQQ
|
110 |
142 |
1.11e-3 |
SMART |
|
PQQ
|
148 |
180 |
7.84e-4 |
SMART |
|
PQQ
|
191 |
223 |
3.26e-1 |
SMART |
|
PQQ
|
279 |
310 |
5.01e1 |
SMART |
|
low complexity region
|
471 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
551 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
571 |
832 |
1.8e-44 |
PFAM |
|
Pfam:Pkinase_Tyr
|
572 |
829 |
8.7e-26 |
PFAM |
|
PUG
|
895 |
952 |
5.25e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106801
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
PQQ
|
110 |
142 |
1.11e-3 |
SMART |
|
PQQ
|
148 |
180 |
7.84e-4 |
SMART |
|
PQQ
|
191 |
223 |
3.26e-1 |
SMART |
|
PQQ
|
279 |
310 |
5.01e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131895
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations display embryonic lethality during organogenesis. Homozygous mice may also display decreased embryo size, impaired hematopoiesis, and/or placental abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
| Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
| Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
| Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
| Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
| Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
| Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
| Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
| Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
| Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
| Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
| Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
| Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
Het |
|
| Other mutations in Ern1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Ern1
|
APN |
11 |
106,312,793 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01938:Ern1
|
APN |
11 |
106,302,483 (GRCm39) |
missense |
probably benign |
|
|
IGL02813:Ern1
|
APN |
11 |
106,314,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02928:Ern1
|
APN |
11 |
106,296,705 (GRCm39) |
splice site |
probably benign |
|
|
IGL02931:Ern1
|
APN |
11 |
106,314,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Immoderate
|
UTSW |
11 |
106,310,868 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Militant
|
UTSW |
11 |
106,302,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7371:Ern1
|
UTSW |
11 |
106,291,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Ern1
|
UTSW |
11 |
106,296,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Ern1
|
UTSW |
11 |
106,298,004 (GRCm39) |
nonsense |
probably null |
|
|
R0411:Ern1
|
UTSW |
11 |
106,289,412 (GRCm39) |
missense |
probably benign |
|
|
R0627:Ern1
|
UTSW |
11 |
106,289,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Ern1
|
UTSW |
11 |
106,312,806 (GRCm39) |
splice site |
probably benign |
|
|
R1831:Ern1
|
UTSW |
11 |
106,290,668 (GRCm39) |
splice site |
probably null |
|
|
R1837:Ern1
|
UTSW |
11 |
106,349,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Ern1
|
UTSW |
11 |
106,312,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Ern1
|
UTSW |
11 |
106,312,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Ern1
|
UTSW |
11 |
106,312,800 (GRCm39) |
splice site |
probably benign |
|
|
R1957:Ern1
|
UTSW |
11 |
106,317,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Ern1
|
UTSW |
11 |
106,300,750 (GRCm39) |
missense |
probably benign |
|
|
R4276:Ern1
|
UTSW |
11 |
106,298,007 (GRCm39) |
missense |
probably benign |
|
|
R4277:Ern1
|
UTSW |
11 |
106,298,007 (GRCm39) |
missense |
probably benign |
|
|
R4471:Ern1
|
UTSW |
11 |
106,310,868 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4583:Ern1
|
UTSW |
11 |
106,298,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Ern1
|
UTSW |
11 |
106,325,676 (GRCm39) |
intron |
probably benign |
|
|
R5177:Ern1
|
UTSW |
11 |
106,302,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5489:Ern1
|
UTSW |
11 |
106,298,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Ern1
|
UTSW |
11 |
106,312,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5806:Ern1
|
UTSW |
11 |
106,289,531 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5922:Ern1
|
UTSW |
11 |
106,312,556 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5931:Ern1
|
UTSW |
11 |
106,317,699 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5990:Ern1
|
UTSW |
11 |
106,302,595 (GRCm39) |
missense |
probably benign |
|
|
R6149:Ern1
|
UTSW |
11 |
106,296,641 (GRCm39) |
nonsense |
probably null |
|
|
R6253:Ern1
|
UTSW |
11 |
106,317,734 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6721:Ern1
|
UTSW |
11 |
106,302,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Ern1
|
UTSW |
11 |
106,294,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Ern1
|
UTSW |
11 |
106,327,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Ern1
|
UTSW |
11 |
106,312,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7494:Ern1
|
UTSW |
11 |
106,298,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Ern1
|
UTSW |
11 |
106,300,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7767:Ern1
|
UTSW |
11 |
106,291,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Ern1
|
UTSW |
11 |
106,325,694 (GRCm39) |
missense |
unknown |
|
|
R7869:Ern1
|
UTSW |
11 |
106,349,845 (GRCm39) |
nonsense |
probably null |
|
|
R8750:Ern1
|
UTSW |
11 |
106,312,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Ern1
|
UTSW |
11 |
106,300,946 (GRCm39) |
missense |
probably benign |
|
|
R9369:Ern1
|
UTSW |
11 |
106,305,259 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9546:Ern1
|
UTSW |
11 |
106,300,853 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9688:Ern1
|
UTSW |
11 |
106,349,836 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9735:Ern1
|
UTSW |
11 |
106,312,708 (GRCm39) |
nonsense |
probably null |
|
|
X0021:Ern1
|
UTSW |
11 |
106,289,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Ern1
|
UTSW |
11 |
106,349,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation