Incidental Mutation 'R7699:Emc1'
| ID |
647861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
045760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R7699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139354870 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 94
(H94Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030513]
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000102503]
[ENSMUST00000147999]
[ENSMUST00000155257]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030513
|
| SMART Domains |
Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
18 |
121 |
7.9e-23 |
PFAM |
|
low complexity region
|
222 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042096
AA Change: H94Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: H94Q
| 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 |
probably benign
Transcript: ENSMUST00000082262
AA Change: H94Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: H94Q
| 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: ENSMUST00000102503
|
| SMART Domains |
Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
18 |
121 |
4.6e-24 |
PFAM |
|
low complexity region
|
223 |
239 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000155257
|
| SMART Domains |
Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
1 |
61 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179784
AA Change: H94Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: H94Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,188,739 (GRCm38) |
P638T |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,803,399 (GRCm38) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 54,884,379 (GRCm38) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,443,928 (GRCm38) |
I1404N |
probably damaging |
Het |
| Cdc42se1 |
A |
G |
3: 95,232,597 (GRCm38) |
N35D |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,540,369 (GRCm38) |
S1447G |
probably benign |
Het |
| Chd6 |
T |
A |
2: 161,025,943 (GRCm38) |
H436L |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,375,406 (GRCm38) |
V605A |
probably benign |
Het |
| Col22a1 |
T |
A |
15: 71,973,851 (GRCm38) |
D354V |
probably damaging |
Het |
| Col25a1 |
T |
A |
3: 130,522,479 (GRCm38) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,514,735 (GRCm38) |
M1L |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,485,739 (GRCm38) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,335 (GRCm38) |
S226T |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,641,965 (GRCm38) |
D68G |
probably benign |
Het |
| Dicer1 |
A |
C |
12: 104,705,170 (GRCm38) |
L947R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,211,724 (GRCm38) |
S89P |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,311,607 (GRCm38) |
K144E |
possibly damaging |
Het |
| Ep300 |
C |
T |
15: 81,586,393 (GRCm38) |
|
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,902,647 (GRCm38) |
I383T |
|
Het |
| Epo |
T |
A |
5: 137,485,176 (GRCm38) |
E5D |
probably benign |
Het |
| Esp15 |
G |
A |
17: 39,644,733 (GRCm38) |
V64I |
possibly damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,885,749 (GRCm38) |
V577E |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 85,098,515 (GRCm38) |
I134N |
probably benign |
Het |
| Fhl4 |
A |
T |
10: 85,098,249 (GRCm38) |
C223S |
probably damaging |
Het |
| Frmpd2 |
G |
T |
14: 33,542,938 (GRCm38) |
M891I |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,456,398 (GRCm38) |
I194V |
probably benign |
Het |
| Glt8d2 |
A |
C |
10: 82,662,288 (GRCm38) |
|
probably null |
Het |
| Gm12886 |
G |
C |
4: 121,416,679 (GRCm38) |
H113Q |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 23,915,496 (GRCm38) |
S345P |
probably damaging |
Het |
| Ighv1-36 |
A |
T |
12: 114,880,026 (GRCm38) |
Y71* |
probably null |
Het |
| Il18bp |
A |
G |
7: 102,016,822 (GRCm38) |
W50R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,218,416 (GRCm38) |
I33K |
probably benign |
Het |
| Lama5 |
C |
T |
2: 180,180,861 (GRCm38) |
A2833T |
probably damaging |
Het |
| Manea |
T |
G |
4: 26,340,758 (GRCm38) |
N68T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,299,720 (GRCm38) |
L339P |
probably damaging |
Het |
| Mblac1 |
A |
C |
5: 138,194,657 (GRCm38) |
D87A |
probably damaging |
Het |
| Mmp24 |
C |
T |
2: 155,798,176 (GRCm38) |
T142I |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 102,059,435 (GRCm38) |
H531L |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 40,606,884 (GRCm38) |
A62V |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,448,321 (GRCm38) |
I339F |
unknown |
Het |
| Naip2 |
G |
A |
13: 100,160,369 (GRCm38) |
T1053I |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,462,821 (GRCm38) |
|
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,782,322 (GRCm38) |
Y282C |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,322,477 (GRCm38) |
T117A |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,155,963 (GRCm38) |
F840L |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,344,941 (GRCm38) |
Y216C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,965,142 (GRCm38) |
I133F |
|
Het |
| Plaur |
A |
G |
7: 24,474,267 (GRCm38) |
N221S |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,103,828 (GRCm38) |
T1068A |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,959,794 (GRCm38) |
D1659G |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,500,196 (GRCm38) |
M1357K |
probably benign |
Het |
| Prr36 |
G |
T |
8: 4,213,989 (GRCm38) |
T559N |
unknown |
Het |
| Prss46 |
A |
G |
9: 110,849,554 (GRCm38) |
M2V |
probably benign |
Het |
| Rbpms |
T |
A |
8: 33,864,363 (GRCm38) |
E51D |
probably damaging |
Het |
| Rere |
C |
T |
4: 150,617,098 (GRCm38) |
R328W |
|
Het |
| Retnla |
T |
A |
16: 48,842,813 (GRCm38) |
N26K |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,031,964 (GRCm38) |
V21I |
probably benign |
Het |
| Safb |
T |
A |
17: 56,601,504 (GRCm38) |
S598R |
unknown |
Het |
| Sertad4 |
A |
G |
1: 192,846,867 (GRCm38) |
S214P |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,110,654 (GRCm38) |
Q786* |
probably null |
Het |
| Slc8a3 |
A |
C |
12: 81,314,473 (GRCm38) |
L524W |
probably damaging |
Het |
| Sp3 |
T |
C |
2: 72,971,229 (GRCm38) |
T191A |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,273,380 (GRCm38) |
S93P |
probably damaging |
Het |
| Tbrg1 |
A |
C |
9: 37,649,475 (GRCm38) |
H368Q |
probably benign |
Het |
| Tinagl1 |
T |
G |
4: 130,168,039 (GRCm38) |
Q198H |
probably benign |
Het |
| Usp19 |
C |
T |
9: 108,496,172 (GRCm38) |
R648* |
probably null |
Het |
| Vmn2r124 |
A |
G |
17: 18,073,723 (GRCm38) |
M691V |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,117,115 (GRCm38) |
M682L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 145,085,405 (GRCm38) |
H3344L |
|
Het |
| Vwa3a |
G |
A |
7: 120,752,618 (GRCm38) |
G35E |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 108,951,122 (GRCm38) |
S2935G |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,815,240 (GRCm38) |
|
probably benign |
Het |
| Zfp758 |
C |
A |
17: 22,375,665 (GRCm38) |
Y377* |
probably null |
Het |
| Zfp952 |
A |
G |
17: 33,002,009 (GRCm38) |
K67R |
possibly damaging |
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 |
|
R2912:Emc1
|
UTSW |
4 |
139,365,260 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
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 |
|
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'- TGAAGCCTTAGCCGACTACC -3'
(R):5'- GCCATTTTCAAAAGCTGCTCAG -3'
Sequencing Primer
(F):5'- AGCCGACTACCCTTGAATTATC -3'
(R):5'- TCAAAAGCTGCTCAGTTGCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation