Incidental Mutation 'R4471:Ern1'
| ID |
329450 |
| 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 |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106285476-106378678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106310868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 302
(V302L)
|
| 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: V302L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: V302L
| 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: V302L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: V302L
| 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 |
0.1162 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,367,040 (GRCm39) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,633,064 (GRCm39) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,907,533 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,174,025 (GRCm39) |
N210I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,395,585 (GRCm39) |
|
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,833 (GRCm39) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,754,089 (GRCm39) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Dnajb4 |
A |
T |
3: 151,890,799 (GRCm39) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,472,894 (GRCm39) |
|
probably benign |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm39) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,317,499 (GRCm39) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,390,650 (GRCm39) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,431,196 (GRCm39) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,965,337 (GRCm39) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,713,857 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,313,764 (GRCm39) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,631 (GRCm39) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,236,990 (GRCm39) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 66,124,797 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm39) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,490,053 (GRCm39) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 126,601,130 (GRCm39) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,311 (GRCm39) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,361,216 (GRCm39) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,423,816 (GRCm39) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,499,780 (GRCm39) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,571,259 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,846,774 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,894,725 (GRCm39) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,603,862 (GRCm39) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,277 (GRCm39) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,673 (GRCm39) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcstv2a |
G |
T |
13: 120,725,579 (GRCm39) |
R81L |
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,461,134 (GRCm39) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm39) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,319,904 (GRCm39) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 128,923,977 (GRCm39) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,338,843 (GRCm39) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,857,830 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,982,728 (GRCm39) |
I399T |
possibly damaging |
Het |
| Utp25 |
C |
T |
1: 192,812,445 (GRCm39) |
R5Q |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 112,193,419 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,151,172 (GRCm39) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,019,041 (GRCm39) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,913 (GRCm39) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,804,157 (GRCm39) |
L2633Q |
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 |
|
|
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'- GCCATAGGGAGTGAGTCTTTC -3'
(R):5'- GCTCATGTGTGGCAGTTGAC -3'
Sequencing Primer
(F):5'- CAGGGAGCTGCTTCTGTCAG -3'
(R):5'- CAGTTGACACTTGTGTCTATGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation