Incidental Mutation 'R9688:Ern1'
| ID |
729001 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106349836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000001059
AA Change: T27A
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: T27A
| 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: ENSMUST00000106799
AA Change: T27A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102411
Gene: ENSMUSG00000020715
AA Change: T27A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106800
AA Change: T27A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102412
Gene: ENSMUSG00000020715
AA Change: T27A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PQQ
|
28 |
59 |
3.46e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106801
AA Change: T27A
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: T27A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
G |
11: 23,469,067 (GRCm39) |
|
probably null |
Het |
| Abca2 |
G |
C |
2: 25,324,459 (GRCm39) |
A272P |
possibly damaging |
Het |
| Adarb1 |
T |
A |
10: 77,147,099 (GRCm39) |
D479V |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,320,765 (GRCm39) |
F162S |
probably damaging |
Het |
| Ano4 |
A |
T |
10: 89,180,506 (GRCm39) |
M1K |
probably null |
Het |
| Antxr1 |
G |
A |
6: 87,114,334 (GRCm39) |
R478C |
probably damaging |
Het |
| Apobr |
T |
C |
7: 126,186,663 (GRCm39) |
S725P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,872,109 (GRCm39) |
D506E |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,031,029 (GRCm39) |
R305W |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,304 (GRCm39) |
I147F |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,878,758 (GRCm39) |
F505L |
probably damaging |
Het |
| Cndp1 |
G |
C |
18: 84,655,982 (GRCm39) |
N62K |
probably benign |
Het |
| Cog6 |
G |
T |
3: 52,916,528 (GRCm39) |
Q214K |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,055,276 (GRCm39) |
Y226* |
probably null |
Het |
| Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
| Ercc6 |
A |
C |
14: 32,297,755 (GRCm39) |
H1334P |
probably benign |
Het |
| Esf1 |
A |
T |
2: 140,010,095 (GRCm39) |
D80E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,124,986 (GRCm39) |
K159E |
probably damaging |
Het |
| Gbx1 |
T |
C |
5: 24,731,510 (GRCm39) |
Y102C |
probably damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,109 (GRCm39) |
S123P |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,859,054 (GRCm39) |
Y198C |
probably damaging |
Het |
| Hps1 |
A |
C |
19: 42,755,147 (GRCm39) |
V265G |
probably benign |
Het |
| Ifna16 |
C |
A |
4: 88,594,874 (GRCm39) |
E74* |
probably null |
Het |
| Inca1 |
C |
T |
11: 70,579,810 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
G |
12: 112,872,564 (GRCm39) |
V1230A |
probably benign |
Het |
| Jam3 |
G |
A |
9: 27,010,204 (GRCm39) |
T260M |
probably benign |
Het |
| Klhl5 |
A |
T |
5: 65,321,930 (GRCm39) |
D652V |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,790,697 (GRCm39) |
I81L |
possibly damaging |
Het |
| Lgalsl |
C |
T |
11: 20,779,442 (GRCm39) |
A68T |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,130,059 (GRCm39) |
D286V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,745,590 (GRCm39) |
I4083V |
probably damaging |
Het |
| Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,072,691 (GRCm39) |
V661A |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,573,309 (GRCm39) |
Y820* |
probably null |
Het |
| Nbea |
G |
T |
3: 55,557,165 (GRCm39) |
N2537K |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,967,349 (GRCm39) |
S562G |
probably benign |
Het |
| Or5t5 |
A |
C |
2: 86,617,005 (GRCm39) |
K310N |
probably damaging |
Het |
| Or6c1b |
C |
A |
10: 129,272,967 (GRCm39) |
C95* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,628 (GRCm39) |
S203G |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,812,196 (GRCm39) |
F309I |
probably benign |
Het |
| Pdzd8 |
G |
A |
19: 59,333,683 (GRCm39) |
L113F |
probably benign |
Het |
| Pex12 |
T |
C |
11: 83,189,257 (GRCm39) |
Y4C |
possibly damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,318,448 (GRCm39) |
D332G |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,547 (GRCm39) |
W303R |
probably damaging |
Het |
| Pyy |
T |
A |
11: 101,998,099 (GRCm39) |
D27V |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,770,234 (GRCm39) |
Q302R |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,656 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,377,087 (GRCm39) |
M58T |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,313,808 (GRCm39) |
H1324Q |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,036,328 (GRCm39) |
S938C |
probably damaging |
Het |
| Sgo2a |
A |
T |
1: 58,056,737 (GRCm39) |
T974S |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,679,348 (GRCm39) |
V130A |
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,434,112 (GRCm39) |
F97L |
probably damaging |
Het |
| Slc9a9 |
C |
A |
9: 95,111,107 (GRCm39) |
Q642K |
probably benign |
Het |
| Sox6 |
G |
T |
7: 115,076,225 (GRCm39) |
D804E |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,233,708 (GRCm39) |
R290S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,199 (GRCm39) |
L425P |
probably damaging |
Het |
| Terf2 |
A |
G |
8: 107,821,543 (GRCm39) |
S176P |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,720,602 (GRCm39) |
H956L |
possibly damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,279 (GRCm39) |
V292A |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,739 (GRCm39) |
E153V |
probably benign |
Het |
| Vmn1r55 |
G |
T |
7: 5,149,669 (GRCm39) |
H251Q |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,051,586 (GRCm39) |
T224A |
probably benign |
Het |
| Yipf4 |
T |
A |
17: 74,806,078 (GRCm39) |
F239Y |
probably benign |
Het |
| Zan |
T |
C |
5: 137,466,717 (GRCm39) |
D380G |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,894 (GRCm39) |
F433S |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,701,435 (GRCm39) |
K432R |
unknown |
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 |
|
|
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 |
|
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'- TTTGGAGTGCAAGTCCGTTTCC -3'
(R):5'- TCTTGGATGAGAACTTAGGCCC -3'
Sequencing Primer
(F):5'- AGTGCAAGTCCGTTTCCTCTTTTTAC -3'
(R):5'- GGATGAGAACTTAGGCCCTCCAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation