Incidental Mutation 'IGL00516:Emc1'
| ID |
6546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL00516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 139355082 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(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
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
| 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 |
noncoding transcript
Transcript: ENSMUST00000123968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144335
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
| 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
C |
11: 80,376,812 (GRCm38) |
D91G |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,413,312 (GRCm38) |
L438* |
probably null |
Het |
| Asph |
A |
T |
4: 9,639,322 (GRCm38) |
N14K |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,216,590 (GRCm38) |
Y298H |
probably damaging |
Het |
| Ccdc66 |
A |
T |
14: 27,498,456 (GRCm38) |
W267R |
probably damaging |
Het |
| Cd81 |
A |
C |
7: 143,067,164 (GRCm38) |
K193N |
probably damaging |
Het |
| Cdkn1a |
C |
A |
17: 29,098,520 (GRCm38) |
A38E |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,732,310 (GRCm38) |
I199T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,098,167 (GRCm38) |
S138P |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 95,726,079 (GRCm38) |
N2123S |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,530,440 (GRCm38) |
S846P |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,455,094 (GRCm38) |
I21M |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,532,467 (GRCm38) |
T371A |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,657,211 (GRCm38) |
I425F |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,101,886 (GRCm38) |
D237G |
probably damaging |
Het |
| Epc1 |
T |
A |
18: 6,450,515 (GRCm38) |
D367V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 30,925,558 (GRCm38) |
Y235C |
probably damaging |
Het |
| Helb |
A |
G |
10: 120,105,424 (GRCm38) |
V453A |
probably damaging |
Het |
| Hras |
A |
G |
7: 141,192,870 (GRCm38) |
I24T |
possibly damaging |
Het |
| Hsf2 |
A |
T |
10: 57,512,028 (GRCm38) |
I423L |
probably benign |
Het |
| Igkv2-109 |
T |
A |
6: 68,303,070 (GRCm38) |
S92T |
probably benign |
Het |
| Kiss1r |
G |
A |
10: 79,918,716 (GRCm38) |
A15T |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,940,166 (GRCm38) |
S17G |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,360,959 (GRCm38) |
D443G |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,014,602 (GRCm38) |
V953E |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,505,405 (GRCm38) |
|
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,812,793 (GRCm38) |
E173G |
probably damaging |
Het |
| Neurl4 |
C |
T |
11: 69,910,393 (GRCm38) |
R1199W |
probably damaging |
Het |
| Otog |
T |
A |
7: 46,251,282 (GRCm38) |
V333E |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 34,184,821 (GRCm38) |
|
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,127,872 (GRCm38) |
|
probably benign |
Het |
| Rbm34 |
T |
C |
8: 126,969,986 (GRCm38) |
N122S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 144,410,775 (GRCm38) |
K917E |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,591,295 (GRCm38) |
K315E |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,577,329 (GRCm38) |
F434C |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,372,905 (GRCm38) |
T183A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,654,218 (GRCm38) |
I1067N |
probably damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,513,068 (GRCm38) |
D192G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,446,199 (GRCm38) |
I791N |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,225,688 (GRCm38) |
N966Y |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,557 (GRCm38) |
D1356V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 56,947,937 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Emc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation