Incidental Mutation 'R5538:Ern1'
| ID |
434947 |
| 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 |
043096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106312727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 218
(V218A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001059]
[ENSMUST00000106801]
|
| AlphaFold |
Q9EQY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001059
AA Change: V218A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: V218A
| 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 |
possibly damaging
Transcript: ENSMUST00000106801
AA Change: V218A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: V218A
| 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 |
0.5190 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (73/78) |
| 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 |
|---|
| Adgrv1 |
C |
A |
13: 81,581,808 (GRCm39) |
R4745S |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,823,257 (GRCm39) |
E642G |
probably damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,667,875 (GRCm39) |
D375E |
probably benign |
Het |
| Arl8b |
C |
A |
6: 108,760,297 (GRCm39) |
L28M |
probably damaging |
Het |
| Bbs2 |
G |
A |
8: 94,816,391 (GRCm39) |
T157M |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,104,700 (GRCm39) |
|
probably null |
Het |
| C6 |
T |
A |
15: 4,844,311 (GRCm39) |
I911N |
possibly damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,852,518 (GRCm39) |
I365T |
possibly damaging |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Ceacam3 |
A |
T |
7: 16,892,346 (GRCm39) |
D363V |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,465,992 (GRCm39) |
L678* |
probably null |
Het |
| Clasrp |
A |
C |
7: 19,318,707 (GRCm39) |
|
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,082,962 (GRCm39) |
Y412N |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 144,998,882 (GRCm39) |
A5V |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,531,703 (GRCm39) |
N13D |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,324,946 (GRCm39) |
M437K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,416,923 (GRCm39) |
F819L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,671,906 (GRCm39) |
T85A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,096 (GRCm39) |
K80* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,168,630 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,204,973 (GRCm39) |
R1157C |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,780,172 (GRCm39) |
I323N |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,198 (GRCm39) |
T199S |
probably benign |
Het |
| Fry |
T |
A |
5: 150,419,313 (GRCm39) |
L915Q |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,986,758 (GRCm39) |
|
probably benign |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gnpda2 |
A |
T |
5: 69,735,394 (GRCm39) |
H230Q |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,802,455 (GRCm39) |
N652I |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,178 (GRCm39) |
H178L |
probably benign |
Het |
| Hells |
T |
A |
19: 38,942,096 (GRCm39) |
F462Y |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,947,235 (GRCm39) |
F260L |
probably benign |
Het |
| Itsn1 |
C |
A |
16: 91,580,990 (GRCm39) |
A23D |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,390,319 (GRCm39) |
Y97* |
probably null |
Het |
| Kif20b |
A |
T |
19: 34,930,364 (GRCm39) |
K25* |
probably null |
Het |
| Klf2 |
T |
C |
8: 73,073,316 (GRCm39) |
L40P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,731,639 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lonrf1 |
T |
A |
8: 36,690,178 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 40,587,486 (GRCm39) |
I154K |
unknown |
Het |
| Mybpc1 |
T |
A |
10: 88,381,891 (GRCm39) |
I600L |
possibly damaging |
Het |
| Npnt |
T |
C |
3: 132,610,724 (GRCm39) |
N285S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,646,964 (GRCm39) |
F92Y |
probably damaging |
Het |
| Or51h5 |
A |
G |
7: 102,577,728 (GRCm39) |
T298A |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,871 (GRCm39) |
Y92F |
probably benign |
Het |
| Or6n1 |
T |
C |
1: 173,917,544 (GRCm39) |
*313R |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,907,183 (GRCm39) |
V13A |
probably damaging |
Het |
| Phkb |
G |
A |
8: 86,648,756 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,581,508 (GRCm39) |
M594V |
probably benign |
Het |
| Potefam3e |
A |
C |
8: 19,799,430 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,469,333 (GRCm39) |
E146G |
probably damaging |
Het |
| Ror1 |
T |
C |
4: 100,298,208 (GRCm39) |
M527T |
probably benign |
Het |
| Scnm1 |
A |
G |
3: 95,037,066 (GRCm39) |
|
probably benign |
Het |
| Skint11 |
A |
T |
4: 114,088,959 (GRCm39) |
N251I |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,282 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,675,188 (GRCm39) |
D272E |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,454,440 (GRCm39) |
V200D |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,429,112 (GRCm39) |
Y417H |
probably damaging |
Het |
| Stk11ip |
C |
A |
1: 75,504,979 (GRCm39) |
S388R |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,049,282 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
A |
G |
7: 90,038,114 (GRCm39) |
I525V |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,390 (GRCm39) |
N158D |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,416,418 (GRCm39) |
L180P |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,714,657 (GRCm39) |
L363P |
probably damaging |
Het |
| Upk3b |
C |
G |
5: 136,072,890 (GRCm39) |
A258G |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,908,612 (GRCm39) |
D1031E |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,041 (GRCm39) |
L592F |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,402,294 (GRCm39) |
H250R |
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 |
|
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'- TCCAACTCACGTTAGCTTGC -3'
(R):5'- TTGCAAACCAGTGACTTCTTGTG -3'
Sequencing Primer
(F):5'- AACTCACGTTAGCTTGCTCTTGG -3'
(R):5'- AACCAGTGACTTCTTGTGACCTGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation