Incidental Mutation 'R7869:Ern1'
| ID |
607998 |
| 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 |
045921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 106349845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 24
(R24*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001059]
[ENSMUST00000106799]
[ENSMUST00000106800]
[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 null
Transcript: ENSMUST00000001059
AA Change: R24*
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: R24*
| 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 null
Transcript: ENSMUST00000106799
AA Change: R24*
|
| SMART Domains |
Protein: ENSMUSP00000102411
Gene: ENSMUSG00000020715
AA Change: R24*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106800
AA Change: R24*
|
| SMART Domains |
Protein: ENSMUSP00000102412
Gene: ENSMUSG00000020715
AA Change: R24*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106801
AA Change: R24*
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: R24*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,332,001 (GRCm39) |
R738C |
possibly damaging |
Het |
| Acot12 |
G |
A |
13: 91,919,844 (GRCm39) |
V260M |
probably benign |
Het |
| Alkbh8 |
A |
T |
9: 3,359,503 (GRCm39) |
H264L |
probably damaging |
Het |
| Arfgef2 |
C |
T |
2: 166,715,623 (GRCm39) |
T1356I |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,251,130 (GRCm39) |
N199K |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 81,858,824 (GRCm39) |
R63G |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,204,378 (GRCm39) |
M197L |
probably benign |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Brdt |
A |
T |
5: 107,518,045 (GRCm39) |
I723L |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,118,698 (GRCm39) |
F2312Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,698 (GRCm39) |
N456S |
probably damaging |
Het |
| Ceacam1 |
G |
T |
7: 25,175,954 (GRCm39) |
A80E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,788,803 (GRCm39) |
V1132A |
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,859,609 (GRCm39) |
C687R |
probably damaging |
Het |
| Cln5 |
A |
G |
14: 103,313,501 (GRCm39) |
Y251C |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,111,014 (GRCm39) |
M91T |
possibly damaging |
Het |
| Ddt |
T |
C |
10: 75,609,060 (GRCm39) |
K33R |
probably damaging |
Het |
| Dhfr |
G |
A |
13: 92,494,471 (GRCm39) |
W58* |
probably null |
Het |
| Dhx40 |
T |
C |
11: 86,688,532 (GRCm39) |
E297G |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,602 (GRCm39) |
Y669C |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,782 (GRCm39) |
F428L |
probably damaging |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,890,213 (GRCm39) |
K656E |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,519 (GRCm39) |
I188T |
probably damaging |
Het |
| Fam83b |
C |
T |
9: 76,399,426 (GRCm39) |
C559Y |
possibly damaging |
Het |
| Fat1 |
T |
G |
8: 45,504,259 (GRCm39) |
F4584C |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,322 (GRCm39) |
T254I |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,432,757 (GRCm39) |
D24G |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,312,816 (GRCm39) |
L832* |
probably null |
Het |
| Gpr68 |
C |
T |
12: 100,845,497 (GRCm39) |
D16N |
probably benign |
Het |
| Il17b |
T |
C |
18: 61,825,480 (GRCm39) |
I172T |
probably damaging |
Het |
| Ildr2 |
T |
G |
1: 166,136,861 (GRCm39) |
S567A |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,809,217 (GRCm39) |
V2557A |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,268,833 (GRCm39) |
S1627P |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,079,343 (GRCm39) |
T285M |
probably damaging |
Het |
| Lrif1 |
G |
A |
3: 106,640,459 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
C |
T |
1: 132,867,116 (GRCm39) |
T727I |
unknown |
Het |
| Lsg1 |
T |
C |
16: 30,383,540 (GRCm39) |
E560G |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,013,204 (GRCm39) |
Q100K |
unknown |
Het |
| Mipep |
A |
T |
14: 61,040,385 (GRCm39) |
R302W |
probably damaging |
Het |
| Morf4l1 |
G |
T |
9: 89,975,844 (GRCm39) |
T316K |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,711,994 (GRCm39) |
V126E |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,303,471 (GRCm39) |
C559S |
|
Het |
| Myh7 |
A |
G |
14: 55,226,530 (GRCm39) |
Y410H |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,309,414 (GRCm39) |
Y433N |
probably damaging |
Het |
| Nmd3 |
T |
C |
3: 69,633,750 (GRCm39) |
L79P |
probably damaging |
Het |
| Nol10 |
G |
T |
12: 17,408,239 (GRCm39) |
S155I |
probably null |
Het |
| Or2n1 |
T |
C |
17: 38,486,830 (GRCm39) |
L285P |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,408 (GRCm39) |
I178V |
probably benign |
Het |
| Or52n2c |
T |
A |
7: 104,574,311 (GRCm39) |
Y220F |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,896,911 (GRCm39) |
I254T |
probably benign |
Het |
| Pde3b |
T |
C |
7: 114,093,922 (GRCm39) |
S389P |
probably benign |
Het |
| Polr1c |
C |
T |
17: 46,555,817 (GRCm39) |
G188D |
probably benign |
Het |
| Prpf31 |
A |
G |
7: 3,633,859 (GRCm39) |
M65V |
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,763,595 (GRCm39) |
T251A |
probably benign |
Het |
| Rabgap1 |
G |
A |
2: 37,377,142 (GRCm39) |
V325I |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl15 |
G |
T |
14: 18,269,017 (GRCm38) |
Y203* |
probably null |
Het |
| Sac3d1 |
G |
A |
19: 6,168,456 (GRCm39) |
P54L |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,510 (GRCm39) |
I104V |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,379,082 (GRCm39) |
Q966* |
probably null |
Het |
| Simc1 |
G |
T |
13: 54,651,713 (GRCm39) |
D9Y |
unknown |
Het |
| Slc5a8 |
T |
C |
10: 88,757,567 (GRCm39) |
L519S |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,138,366 (GRCm39) |
Q1179K |
possibly damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,295,583 (GRCm39) |
L91P |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,429 (GRCm39) |
T887A |
probably benign |
Het |
| Sult2a6 |
A |
G |
7: 13,988,737 (GRCm39) |
F8L |
not run |
Het |
| Thsd7a |
A |
T |
6: 12,471,123 (GRCm39) |
C498* |
probably null |
Het |
| Timp4 |
T |
C |
6: 115,227,355 (GRCm39) |
I75V |
probably benign |
Het |
| Tspyl4 |
T |
A |
10: 34,174,096 (GRCm39) |
M196K |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,301,934 (GRCm39) |
E172G |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13c |
T |
G |
9: 73,602,159 (GRCm39) |
L1362F |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,199,986 (GRCm39) |
V489A |
probably damaging |
Het |
| Vps39 |
T |
C |
2: 120,169,875 (GRCm39) |
T226A |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,471,863 (GRCm39) |
E185K |
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 |
|
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 |
|
|
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'- CTCTTTGGAGTGCAAGTCCG -3'
(R):5'- GAAGATGTGCTCTTGGATGAGAAC -3'
Sequencing Primer
(F):5'- GGAGTGCAAGTCCGTTTCCTC -3'
(R):5'- CTCTTGGATGAGAACTTAGGCCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation