Incidental Mutation 'R5931:Ern1'
| ID |
461860 |
| 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 |
044126-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5931 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106317699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 142
(S142P)
|
| 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: S142P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: S142P
| 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: S142P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: S142P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,896,096 (GRCm39) |
R315W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,775,356 (GRCm39) |
Y153F |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,167 (GRCm39) |
V1644A |
probably damaging |
Het |
| Carmil3 |
A |
C |
14: 55,736,397 (GRCm39) |
K654T |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,392,964 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
C |
T |
2: 73,398,444 (GRCm39) |
V332M |
probably benign |
Het |
| Clca3a2 |
A |
C |
3: 144,797,886 (GRCm39) |
V193G |
possibly damaging |
Het |
| Cyld |
A |
G |
8: 89,456,470 (GRCm39) |
|
probably null |
Het |
| Dbt |
A |
T |
3: 116,317,074 (GRCm39) |
E83D |
possibly damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,618 (GRCm39) |
R471G |
possibly damaging |
Het |
| Dgcr2 |
T |
A |
16: 17,675,173 (GRCm39) |
I188F |
possibly damaging |
Het |
| Dgkg |
G |
A |
16: 22,376,788 (GRCm39) |
R524* |
probably null |
Het |
| Dnaaf9 |
G |
A |
2: 130,656,109 (GRCm39) |
T2M |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,453,425 (GRCm39) |
R4399W |
probably damaging |
Het |
| Egflam |
G |
A |
15: 7,273,338 (GRCm39) |
T579I |
possibly damaging |
Het |
| Eif2b2 |
C |
T |
12: 85,269,561 (GRCm39) |
T211I |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,883,386 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
C |
G |
19: 29,593,129 (GRCm39) |
A788P |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,999,250 (GRCm39) |
C351S |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,806,307 (GRCm39) |
S444T |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,198,268 (GRCm39) |
T384M |
probably benign |
Het |
| Gpbp1l1 |
T |
C |
4: 116,447,457 (GRCm39) |
V379A |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,722,375 (GRCm39) |
E305* |
probably null |
Het |
| Hoxa3 |
G |
A |
6: 52,149,568 (GRCm39) |
A21V |
probably damaging |
Het |
| Hs1bp3 |
C |
A |
12: 8,391,915 (GRCm39) |
P339Q |
probably benign |
Het |
| Igha |
T |
A |
12: 113,223,710 (GRCm39) |
T49S |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Lats2 |
A |
G |
14: 57,933,588 (GRCm39) |
L843P |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,839 (GRCm39) |
T255A |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,476,368 (GRCm39) |
I110V |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,722 (GRCm39) |
I44V |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,614,944 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nphp3 |
T |
A |
9: 103,897,945 (GRCm39) |
D417E |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,670 (GRCm39) |
I193V |
probably benign |
Het |
| Paqr7 |
A |
C |
4: 134,235,031 (GRCm39) |
Y296S |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,087,808 (GRCm39) |
T664S |
probably damaging |
Het |
| Pelo |
T |
A |
13: 115,225,379 (GRCm39) |
Y282F |
probably benign |
Het |
| Plxna2 |
A |
T |
1: 194,493,178 (GRCm39) |
I1818F |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,389,833 (GRCm39) |
D319G |
probably benign |
Het |
| Pnma8a |
C |
A |
7: 16,694,809 (GRCm39) |
N221K |
probably benign |
Het |
| Ppp1cb |
T |
A |
5: 32,640,810 (GRCm39) |
|
probably null |
Het |
| Prkca |
T |
G |
11: 107,905,136 (GRCm39) |
I201L |
probably benign |
Het |
| Prp2rt |
A |
G |
13: 97,235,705 (GRCm39) |
L14S |
probably benign |
Het |
| Rfx2 |
G |
A |
17: 57,087,778 (GRCm39) |
R538C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,936 (GRCm39) |
Q100R |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,972,608 (GRCm39) |
R29* |
probably null |
Het |
| Scel |
T |
A |
14: 103,843,060 (GRCm39) |
Y547* |
probably null |
Het |
| Sp100 |
C |
T |
1: 85,606,804 (GRCm39) |
P303L |
probably damaging |
Het |
| Stk31 |
A |
G |
6: 49,446,236 (GRCm39) |
S958G |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,055,639 (GRCm39) |
V4168E |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 49,099,533 (GRCm39) |
S91T |
probably benign |
Het |
| Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
| Tmem248 |
T |
A |
5: 130,258,349 (GRCm39) |
I14N |
probably damaging |
Het |
| Tor3a |
T |
C |
1: 156,484,057 (GRCm39) |
I298V |
probably benign |
Het |
| Trim69 |
A |
T |
2: 122,009,075 (GRCm39) |
K378N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,232,975 (GRCm39) |
P151S |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,779,294 (GRCm39) |
V1225A |
probably damaging |
Het |
| Vps4b |
T |
C |
1: 106,705,065 (GRCm39) |
I343V |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,047 (GRCm39) |
T184A |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
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 |
|
|
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 |
|
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'- AAGGGTCTAGAACTCTGGCTGC -3'
(R):5'- AGCATCTCCAACATCCTGGC -3'
Sequencing Primer
(F):5'- TAGAACTCTGGCTGCCTGGAG -3'
(R):5'- CCAACATCCTGGCATTTCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation