Incidental Mutation 'R6721:Ern1'
ID |
529600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ern1
|
Ensembl Gene |
ENSMUSG00000020715 |
Gene Name |
endoplasmic reticulum to nucleus signalling 1 |
Synonyms |
Ire1p, 9030414B18Rik, Ire1a, Ire1alpha |
MMRRC Submission |
044839-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6721 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106302478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 459
(W459R)
|
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 damaging
Transcript: ENSMUST00000001059
AA Change: W459R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001059 Gene: ENSMUSG00000020715 AA Change: W459R
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
|
Meta Mutation Damage Score |
0.6639 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (44/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACAGTGTGTGCAATACCACATC -3'
(R):5'- TCTCGAGTGCCAACTTCATC -3'
Sequencing Primer
(F):5'- GTGTGTGCAATACCACATCTGTCTC -3'
(R):5'- GAGTGCCAACTTCATCTCTATCTGG -3'
|
Posted On |
2018-08-01 |