Incidental Mutation 'R1416:Ern1'
| ID |
159600 |
| 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 |
039472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1416 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 106312806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001059]
[ENSMUST00000106801]
|
| AlphaFold |
Q9EQY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001059
|
| SMART Domains |
Protein: ENSMUSP00000001059
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 |
|
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
94% (63/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,674,238 (GRCm39) |
I250T |
possibly damaging |
Het |
| Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
| Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,897,338 (GRCm39) |
I161F |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
| Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
| Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,390,397 (GRCm39) |
F77S |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
| Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
| Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
| Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
| Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
| Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,051 (GRCm39) |
S481F |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
| Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
| Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
| Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
| Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
| Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,166 (GRCm39) |
H580Q |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCGTAGAGTCTCCACAGCAAC -3'
(R):5'- AGCGTCATTGGCACTGCATTCG -3'
Sequencing Primer
(F):5'- ATGTGCACCACCTTTCTCAG -3'
(R):5'- TCTCAGCATTTACTCTCACTTATTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation