Incidental Mutation 'R0411:Ern1'
| ID |
36679 |
| 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 |
038613-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106289412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 964
(E964K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001059]
|
| 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 benign
Transcript: ENSMUST00000001059
AA Change: E964K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: E964K
| 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 |
noncoding transcript
Transcript: ENSMUST00000131895
|
| Meta Mutation Damage Score |
0.0886 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
| 6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
T |
C |
9: 103,993,495 (GRCm39) |
F541L |
probably damaging |
Het |
| Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
| Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
| Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
| Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
| Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
| Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
| Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
| Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,373,060 (GRCm39) |
I701N |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
| Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
| Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,955,405 (GRCm39) |
H1687L |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
| Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
| Slc6a3 |
T |
C |
13: 73,705,169 (GRCm39) |
V220A |
possibly damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
| Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,935,436 (GRCm39) |
H226N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
| Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
| Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
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 |
|
|
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 |
|
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'- CGGTGAAAGGCTGATGCTGTTTCC -3'
(R):5'- GCCTGTTAAAGCTGTGTCTCTGCTC -3'
Sequencing Primer
(F):5'- TCACTACAAGGTTTCAGGGC -3'
(R):5'- GTGTCTCTGCTCATTCACAGAAAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation