Incidental Mutation 'IGL01938:Ern1'
ID |
180763 |
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 # |
IGL01938
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106302483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 457
(V457A)
|
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 |
probably benign
Transcript: ENSMUST00000001059
AA Change: V457A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000001059 Gene: ENSMUSG00000020715 AA Change: V457A
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
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 |
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 |
IGL03153:Ern1
|
APN |
11 |
106,300,924 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
2014-05-07 |