Incidental Mutation 'R2912:Emc1'
| ID |
261295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
040499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139365260 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 504
(S504P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042096
AA Change: S501P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: S501P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
787 |
993 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082262
AA Change: S504P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: S504P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
4.7e-10 |
PFAM |
|
Pfam:DUF1620
|
791 |
996 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147999
|
| SMART Domains |
Protein: ENSMUSP00000117419
Gene: ENSMUSG00000066036
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
629 |
N/A |
INTRINSIC |
|
Pfam:E3_UbLigase_R4
|
1205 |
1301 |
4.5e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155700
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: S504P
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: S504P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
T |
11: 69,130,040 (GRCm38) |
K197M |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,474,517 (GRCm38) |
K182E |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,692,206 (GRCm38) |
D4643G |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,880,378 (GRCm38) |
D41G |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 (GRCm38) |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,987,053 (GRCm38) |
T372A |
possibly damaging |
Het |
| Dbn1 |
A |
G |
13: 55,482,421 (GRCm38) |
F45L |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 112,935,575 (GRCm38) |
E251G |
probably damaging |
Het |
| Dnajc27 |
C |
T |
12: 4,096,280 (GRCm38) |
S103L |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,715,675 (GRCm38) |
N348K |
probably benign |
Het |
| F5 |
A |
G |
1: 164,193,919 (GRCm38) |
D1321G |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 191,163,228 (GRCm38) |
N406S |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,098,765 (GRCm38) |
V131I |
probably benign |
Het |
| Hprt1 |
T |
C |
X: 53,020,139 (GRCm38) |
Y174H |
probably damaging |
Het |
| Kcnq2 |
A |
G |
2: 181,081,774 (GRCm38) |
V603A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,000,803 (GRCm38) |
S2716G |
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,684,053 (GRCm38) |
V48A |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,475,911 (GRCm38) |
I121F |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,275,914 (GRCm38) |
L188P |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,281,308 (GRCm38) |
T372A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 48,168,067 (GRCm38) |
S307G |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 163,044,003 (GRCm38) |
Y637C |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,642,241 (GRCm38) |
G71S |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,749,604 (GRCm38) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 31,818,567 (GRCm38) |
S474P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,026,974 (GRCm38) |
D644A |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,934,701 (GRCm38) |
I47T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,865,114 (GRCm38) |
N170Y |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,298,389 (GRCm38) |
D191G |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,462,216 (GRCm38) |
Y259H |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 89,069,821 (GRCm38) |
I660V |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,392,734 (GRCm38) |
E421G |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,516,229 (GRCm38) |
P52S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,248,980 (GRCm38) |
S206P |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,375,454 (GRCm38) |
P217S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,718,130 (GRCm38) |
D382G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 109,054,453 (GRCm38) |
F144L |
possibly damaging |
Het |
| Snx29 |
C |
T |
16: 11,447,453 (GRCm38) |
R516W |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,392,483 (GRCm38) |
S2763P |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,844,706 (GRCm38) |
M294V |
probably benign |
Het |
| Zfp467 |
C |
A |
6: 48,439,076 (GRCm38) |
R214L |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,512,327 (GRCm38) |
A532S |
probably benign |
Het |
| Zscan4d |
G |
A |
7: 11,162,687 (GRCm38) |
P252L |
probably benign |
Het |
|
| Other mutations in Emc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Emc1
|
APN |
4 |
139,355,082 (GRCm38) |
splice site |
probably benign |
|
|
IGL00898:Emc1
|
APN |
4 |
139,371,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01481:Emc1
|
APN |
4 |
139,362,099 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02174:Emc1
|
APN |
4 |
139,371,668 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02264:Emc1
|
APN |
4 |
139,375,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02501:Emc1
|
APN |
4 |
139,370,984 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02697:Emc1
|
APN |
4 |
139,352,644 (GRCm38) |
missense |
probably benign |
|
|
IGL03355:Emc1
|
APN |
4 |
139,371,593 (GRCm38) |
splice site |
probably benign |
|
|
IGL03386:Emc1
|
APN |
4 |
139,363,781 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT4480001:Emc1
|
UTSW |
4 |
139,359,277 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0023:Emc1
|
UTSW |
4 |
139,371,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0023:Emc1
|
UTSW |
4 |
139,371,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Emc1
|
UTSW |
4 |
139,375,163 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0094:Emc1
|
UTSW |
4 |
139,360,485 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0613:Emc1
|
UTSW |
4 |
139,375,072 (GRCm38) |
splice site |
probably benign |
|
|
R1464:Emc1
|
UTSW |
4 |
139,370,937 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1464:Emc1
|
UTSW |
4 |
139,370,937 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1512:Emc1
|
UTSW |
4 |
139,360,184 (GRCm38) |
splice site |
probably null |
|
|
R1702:Emc1
|
UTSW |
4 |
139,375,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1839:Emc1
|
UTSW |
4 |
139,360,485 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1843:Emc1
|
UTSW |
4 |
139,375,512 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1850:Emc1
|
UTSW |
4 |
139,359,373 (GRCm38) |
splice site |
probably benign |
|
|
R2024:Emc1
|
UTSW |
4 |
139,360,946 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2196:Emc1
|
UTSW |
4 |
139,366,530 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3696:Emc1
|
UTSW |
4 |
139,365,386 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3697:Emc1
|
UTSW |
4 |
139,365,386 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3698:Emc1
|
UTSW |
4 |
139,365,386 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3803:Emc1
|
UTSW |
4 |
139,367,163 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3923:Emc1
|
UTSW |
4 |
139,363,185 (GRCm38) |
nonsense |
probably null |
|
|
R4738:Emc1
|
UTSW |
4 |
139,362,202 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R4914:Emc1
|
UTSW |
4 |
139,375,165 (GRCm38) |
nonsense |
probably null |
|
|
R5033:Emc1
|
UTSW |
4 |
139,371,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5322:Emc1
|
UTSW |
4 |
139,354,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5375:Emc1
|
UTSW |
4 |
139,366,491 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5483:Emc1
|
UTSW |
4 |
139,375,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5587:Emc1
|
UTSW |
4 |
139,362,148 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5687:Emc1
|
UTSW |
4 |
139,375,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5938:Emc1
|
UTSW |
4 |
139,357,620 (GRCm38) |
missense |
probably benign |
|
|
R6056:Emc1
|
UTSW |
4 |
139,354,222 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6170:Emc1
|
UTSW |
4 |
139,366,378 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6174:Emc1
|
UTSW |
4 |
139,366,531 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6208:Emc1
|
UTSW |
4 |
139,354,271 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6340:Emc1
|
UTSW |
4 |
139,365,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6371:Emc1
|
UTSW |
4 |
139,371,665 (GRCm38) |
nonsense |
probably null |
|
|
R6889:Emc1
|
UTSW |
4 |
139,365,350 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7592:Emc1
|
UTSW |
4 |
139,360,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7699:Emc1
|
UTSW |
4 |
139,354,870 (GRCm38) |
missense |
probably benign |
|
|
R7715:Emc1
|
UTSW |
4 |
139,371,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7984:Emc1
|
UTSW |
4 |
139,375,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8112:Emc1
|
UTSW |
4 |
139,367,187 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8325:Emc1
|
UTSW |
4 |
139,365,210 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8387:Emc1
|
UTSW |
4 |
139,361,289 (GRCm38) |
missense |
probably benign |
|
|
R8751:Emc1
|
UTSW |
4 |
139,369,968 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9032:Emc1
|
UTSW |
4 |
139,367,163 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9085:Emc1
|
UTSW |
4 |
139,367,163 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9474:Emc1
|
UTSW |
4 |
139,366,394 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9482:Emc1
|
UTSW |
4 |
139,360,890 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9610:Emc1
|
UTSW |
4 |
139,363,724 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9611:Emc1
|
UTSW |
4 |
139,363,724 (GRCm38) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGAAGGTCCTTCAGGAG -3'
(R):5'- ACAAATGCTGACTCGTGACAG -3'
Sequencing Primer
(F):5'- TCCTTCAGGAGAGGGAGAGGC -3'
(R):5'- GATCAATTCTATCCTCGAAAACTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation