Incidental Mutation 'R5687:Emc1'
| ID |
443417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
043320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5687 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139375380 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 950
(R950L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042096
AA Change: R947L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: R947L
| 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 damaging
Transcript: ENSMUST00000082262
AA Change: R950L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: R950L
| 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: R950L
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: R950L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181556
|
| Meta Mutation Damage Score |
0.7183 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,325,971 (GRCm38) |
D1292V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,620,819 (GRCm38) |
C1063* |
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,642,569 (GRCm38) |
V892D |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,500,515 (GRCm38) |
D497G |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,914,711 (GRCm38) |
I195L |
probably benign |
Het |
| Asmt |
G |
T |
X: 170,678,016 (GRCm38) |
S377I |
unknown |
Het |
| C1s1 |
T |
A |
6: 124,540,950 (GRCm38) |
T24S |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,392,854 (GRCm38) |
|
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 121,014,702 (GRCm38) |
|
probably benign |
Het |
| Cct8 |
T |
C |
16: 87,488,821 (GRCm38) |
I250V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,098,176 (GRCm38) |
T135A |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 114,217,103 (GRCm38) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,559,166 (GRCm38) |
M575T |
probably benign |
Het |
| Dmp1 |
C |
T |
5: 104,207,086 (GRCm38) |
|
probably benign |
Het |
| Enpep |
T |
C |
3: 129,299,094 (GRCm38) |
|
probably null |
Het |
| Eya1 |
G |
A |
1: 14,183,252 (GRCm38) |
T500I |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,093,618 (GRCm38) |
F54L |
probably damaging |
Het |
| Fbxo8 |
A |
G |
8: 56,591,517 (GRCm38) |
K285R |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,272,750 (GRCm38) |
E416D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,419,233 (GRCm38) |
|
probably null |
Het |
| Gm10800 |
T |
A |
2: 98,666,620 (GRCm38) |
Y196F |
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,539,020 (GRCm38) |
|
probably null |
Het |
| Jrkl |
C |
T |
9: 13,244,382 (GRCm38) |
E425K |
probably benign |
Het |
| Kl |
T |
G |
5: 150,988,466 (GRCm38) |
I560S |
possibly damaging |
Het |
| Kyat3 |
C |
A |
3: 142,734,582 (GRCm38) |
R356S |
probably null |
Het |
| Lrig2 |
C |
T |
3: 104,464,072 (GRCm38) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,015,683 (GRCm38) |
T239A |
probably benign |
Het |
| Map4k2 |
T |
C |
19: 6,345,642 (GRCm38) |
|
probably benign |
Het |
| Mon2 |
A |
G |
10: 123,008,239 (GRCm38) |
S1469P |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 3,990,002 (GRCm38) |
|
probably null |
Het |
| Mvk |
G |
T |
5: 114,450,765 (GRCm38) |
G144V |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,605,805 (GRCm38) |
|
probably benign |
Het |
| Ndst4 |
A |
C |
3: 125,438,609 (GRCm38) |
N276H |
possibly damaging |
Het |
| Nsmf |
C |
T |
2: 25,056,067 (GRCm38) |
P189S |
probably damaging |
Het |
| Nt5m |
T |
G |
11: 59,852,823 (GRCm38) |
D92E |
probably benign |
Het |
| Olfr1198 |
A |
T |
2: 88,746,750 (GRCm38) |
I46N |
probably damaging |
Het |
| Olfr1285 |
T |
C |
2: 111,408,688 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr981 |
T |
G |
9: 40,022,435 (GRCm38) |
L14R |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,455,172 (GRCm38) |
I119N |
probably damaging |
Het |
| Pard6b |
A |
T |
2: 168,098,626 (GRCm38) |
S178C |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,287,978 (GRCm38) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 95,029,025 (GRCm38) |
|
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,146,813 (GRCm38) |
E1173G |
probably benign |
Het |
| Prph2 |
T |
A |
17: 46,923,465 (GRCm38) |
L320Q |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,693,669 (GRCm38) |
I200T |
probably damaging |
Het |
| Rhbdd3 |
T |
A |
11: 5,105,707 (GRCm38) |
S324T |
probably damaging |
Het |
| Rps6-ps2 |
A |
T |
8: 88,806,484 (GRCm38) |
|
noncoding transcript |
Het |
| Rps8 |
G |
C |
4: 117,155,155 (GRCm38) |
|
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,016,565 (GRCm38) |
N61S |
probably benign |
Het |
| Sfrp2 |
G |
A |
3: 83,766,839 (GRCm38) |
A100T |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,302,741 (GRCm38) |
T25A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,463,443 (GRCm38) |
R329L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 45,775,632 (GRCm38) |
F285L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,419,129 (GRCm38) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,825,636 (GRCm38) |
Y533C |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,317,763 (GRCm38) |
S668I |
probably benign |
Het |
| Taf6l |
T |
G |
19: 8,773,312 (GRCm38) |
I133L |
probably benign |
Het |
| Tcrg-C1 |
A |
T |
13: 19,216,559 (GRCm38) |
I153F |
unknown |
Het |
| Thrap3 |
G |
A |
4: 126,180,486 (GRCm38) |
|
probably benign |
Het |
| Tmem115 |
A |
G |
9: 107,534,855 (GRCm38) |
N126S |
probably benign |
Het |
| Tspoap1 |
T |
A |
11: 87,777,126 (GRCm38) |
I1192N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,678,134 (GRCm38) |
I3184V |
probably damaging |
Het |
| Yeats4 |
G |
A |
10: 117,215,680 (GRCm38) |
T224M |
probably benign |
Het |
| Zc3h13 |
A |
T |
14: 75,331,960 (GRCm38) |
R1416* |
probably null |
Het |
| Zmynd12 |
T |
A |
4: 119,441,901 (GRCm38) |
Y193N |
probably 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 |
|
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'- CCTGGAGTCCACTTGTTTGG -3'
(R):5'- TCAGGGATCCAACAGTCCAC -3'
Sequencing Primer
(F):5'- TTTGGTGAGTGGCCCCAC -3'
(R):5'- AGTCCACGGCCATCTCCTTAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation