Incidental Mutation 'R8750:Ern1'
ID |
663793 |
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 |
068593-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8750 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106312776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 202
(S202T)
|
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: S202T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001059 Gene: ENSMUSG00000020715 AA Change: S202T
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 damaging
Transcript: ENSMUST00000106801
AA Change: S202T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102413 Gene: ENSMUSG00000020715 AA Change: S202T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
G |
A |
12: 81,607,247 (GRCm39) |
Q172* |
probably null |
Het |
Ankib1 |
A |
G |
5: 3,752,890 (GRCm39) |
|
probably null |
Het |
Avpr1b |
C |
T |
1: 131,527,674 (GRCm39) |
R66C |
probably damaging |
Het |
Bbs7 |
A |
T |
3: 36,661,744 (GRCm39) |
C152S |
possibly damaging |
Het |
Cacna1a |
C |
A |
8: 85,285,784 (GRCm39) |
R810S |
probably damaging |
Het |
Ccdc17 |
G |
A |
4: 116,457,129 (GRCm39) |
A538T |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,285,080 (GRCm39) |
M89V |
probably benign |
Het |
Clec11a |
G |
T |
7: 43,955,323 (GRCm39) |
D157E |
probably benign |
Het |
Crtam |
A |
C |
9: 40,895,641 (GRCm39) |
D228E |
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,209 (GRCm39) |
I331V |
probably benign |
Het |
Cysltr2 |
T |
C |
14: 73,267,078 (GRCm39) |
I211V |
probably benign |
Het |
Dcaf13 |
T |
C |
15: 38,982,836 (GRCm39) |
S123P |
probably damaging |
Het |
Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,026,924 (GRCm39) |
L700Q |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,935,585 (GRCm39) |
S670L |
probably damaging |
Het |
Dsg2 |
A |
T |
18: 20,708,069 (GRCm39) |
I57F |
possibly damaging |
Het |
Dzip3 |
A |
C |
16: 48,801,338 (GRCm39) |
I62S |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,350,206 (GRCm39) |
C517* |
probably null |
Het |
Galnt16 |
G |
A |
12: 80,644,879 (GRCm39) |
V501I |
probably benign |
Het |
Gmip |
A |
T |
8: 70,273,134 (GRCm39) |
R840S |
probably benign |
Het |
Gna14 |
A |
C |
19: 16,585,458 (GRCm39) |
I279L |
|
Het |
Irak2 |
T |
C |
6: 113,663,783 (GRCm39) |
M444T |
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,389,755 (GRCm39) |
|
probably null |
Het |
Kif5a |
T |
A |
10: 127,083,909 (GRCm39) |
H94L |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,698,215 (GRCm39) |
T636A |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,212 (GRCm39) |
S152P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,300,822 (GRCm39) |
M25L |
probably benign |
Het |
Map7d1 |
T |
C |
4: 126,132,315 (GRCm39) |
N286D |
probably benign |
Het |
Mfrp |
A |
G |
9: 44,014,802 (GRCm39) |
K280E |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,308,488 (GRCm39) |
L1100I |
probably damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,131,778 (GRCm39) |
I347V |
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,785,724 (GRCm39) |
C11* |
probably null |
Het |
Mx1 |
T |
C |
16: 97,252,917 (GRCm39) |
E401G |
probably damaging |
Het |
Mypn |
T |
C |
10: 63,003,036 (GRCm39) |
D367G |
probably benign |
Het |
Nherf2 |
T |
C |
17: 24,861,233 (GRCm39) |
I176V |
probably damaging |
Het |
Or52a33 |
T |
A |
7: 103,289,059 (GRCm39) |
D96V |
probably damaging |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,929 (GRCm39) |
I246R |
probably damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,307 (GRCm39) |
L54H |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,177,369 (GRCm39) |
M567R |
probably damaging |
Het |
Plekhd1 |
A |
T |
12: 80,752,861 (GRCm39) |
D109V |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,875,424 (GRCm39) |
I17T |
probably benign |
Het |
Pot1b |
T |
C |
17: 55,973,537 (GRCm39) |
D421G |
probably benign |
Het |
Prkar1b |
A |
T |
5: 139,036,451 (GRCm39) |
W224R |
probably damaging |
Het |
Psmd1 |
C |
A |
1: 86,016,585 (GRCm39) |
R490S |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,013,659 (GRCm39) |
W521R |
probably damaging |
Het |
Rhpn2 |
C |
A |
7: 35,075,680 (GRCm39) |
Q286K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,486,602 (GRCm39) |
M411K |
probably benign |
Het |
Scpep1 |
A |
C |
11: 88,835,298 (GRCm39) |
V125G |
probably damaging |
Het |
Serpinb9c |
C |
T |
13: 33,335,793 (GRCm39) |
V248M |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,593 (GRCm39) |
N282I |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,758,514 (GRCm39) |
D159V |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,605,567 (GRCm39) |
V230A |
unknown |
Het |
Ssu2 |
T |
A |
6: 112,359,312 (GRCm39) |
I103F |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,815 (GRCm39) |
F453I |
probably damaging |
Het |
Tac2 |
C |
T |
10: 127,564,319 (GRCm39) |
P72L |
possibly damaging |
Het |
Tiparp |
T |
G |
3: 65,460,125 (GRCm39) |
S473R |
probably damaging |
Het |
Tmem135 |
C |
T |
7: 88,956,456 (GRCm39) |
R53Q |
probably damaging |
Het |
Tmem200b |
T |
A |
4: 131,649,406 (GRCm39) |
F109I |
probably damaging |
Het |
Tmem245 |
A |
T |
4: 56,886,141 (GRCm39) |
I825N |
probably damaging |
Het |
Tmem63c |
G |
T |
12: 87,103,306 (GRCm39) |
V27F |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,033,162 (GRCm39) |
I415M |
probably damaging |
Het |
Tut4 |
C |
G |
4: 108,407,940 (GRCm39) |
A1403G |
probably damaging |
Het |
Wfdc2 |
T |
A |
2: 164,407,818 (GRCm39) |
N162K |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,939 (GRCm39) |
I373F |
probably damaging |
Het |
Zfp27 |
T |
C |
7: 29,594,804 (GRCm39) |
N387S |
possibly damaging |
Het |
Zfp760 |
A |
T |
17: 21,941,356 (GRCm39) |
H177L |
possibly damaging |
Het |
Zg16 |
A |
G |
7: 126,649,518 (GRCm39) |
S148P |
possibly damaging |
Het |
Zic2 |
A |
G |
14: 122,714,129 (GRCm39) |
N348D |
probably benign |
Het |
Zswim4 |
A |
T |
8: 84,939,313 (GRCm39) |
D856E |
possibly damaging |
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 |
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 |
|
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'- CCTTGGGGAATGGATACTTCCAC -3'
(R):5'- AGCCAGGCATATCACAGTGTC -3'
Sequencing Primer
(F):5'- GATACTTCCACTTGGTGATGCGC -3'
(R):5'- CAGGCATATCACAGTGTCTTAAAAC -3'
|
Posted On |
2021-03-08 |