Incidental Mutation 'IGL02174:Emc1'
| ID |
283042 |
| 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 # |
IGL02174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139371668 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 821
(Y821H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042096
AA Change: Y818H
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: Y818H
| 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: Y821H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: Y821H
| 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: Y821H
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: Y821H
| 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
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,500,742 (GRCm38) |
I1199V |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,427,664 (GRCm38) |
T4861I |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 108,080,285 (GRCm38) |
D108G |
probably damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,486 (GRCm38) |
F298L |
probably benign |
Het |
| Bag1 |
T |
A |
4: 40,941,555 (GRCm38) |
E123D |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 87,980,480 (GRCm38) |
E330G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,033,655 (GRCm38) |
K435E |
probably benign |
Het |
| Clip2 |
T |
G |
5: 134,494,264 (GRCm38) |
K943T |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,048,907 (GRCm38) |
I3527V |
possibly damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,355,629 (GRCm38) |
R244C |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,138,149 (GRCm38) |
A284E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,859,029 (GRCm38) |
L279Q |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,032,921 (GRCm38) |
L497P |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,706,917 (GRCm38) |
I233F |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,721,087 (GRCm38) |
G720* |
probably null |
Het |
| E430018J23Rik |
G |
A |
7: 127,392,353 (GRCm38) |
T154I |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,998,003 (GRCm38) |
R519W |
probably damaging |
Het |
| Gamt |
A |
T |
10: 80,258,396 (GRCm38) |
V227E |
possibly damaging |
Het |
| Habp2 |
A |
G |
19: 56,311,737 (GRCm38) |
Q206R |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,950,946 (GRCm38) |
I90T |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,934,458 (GRCm38) |
|
probably benign |
Het |
| Lcp2 |
T |
C |
11: 34,050,966 (GRCm38) |
|
probably benign |
Het |
| Lyrm2 |
A |
G |
4: 32,800,649 (GRCm38) |
I29V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,491,794 (GRCm38) |
D1168G |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,695,896 (GRCm38) |
S753P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,332,393 (GRCm38) |
E367G |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,249,194 (GRCm38) |
A255V |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 107,339,051 (GRCm38) |
P148S |
probably damaging |
Het |
| Olfr1043 |
T |
A |
2: 86,162,098 (GRCm38) |
M284L |
possibly damaging |
Het |
| Olfr1226 |
A |
T |
2: 89,193,368 (GRCm38) |
F222Y |
probably benign |
Het |
| Olfr5 |
T |
C |
7: 6,480,439 (GRCm38) |
Y239C |
probably benign |
Het |
| Olfr890 |
A |
T |
9: 38,143,785 (GRCm38) |
T217S |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,761,618 (GRCm38) |
C1679Y |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,296,498 (GRCm38) |
I508N |
probably damaging |
Het |
| Pkd2l1 |
G |
A |
19: 44,157,268 (GRCm38) |
T172I |
probably benign |
Het |
| Pld5 |
A |
G |
1: 176,274,744 (GRCm38) |
V44A |
possibly damaging |
Het |
| Prss44 |
T |
C |
9: 110,817,131 (GRCm38) |
W309R |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,411,225 (GRCm38) |
N88K |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 94,633,140 (GRCm38) |
I102M |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,859,742 (GRCm38) |
|
probably null |
Het |
| Tbx3 |
C |
A |
5: 119,675,584 (GRCm38) |
Y228* |
probably null |
Het |
| Tcf15 |
G |
T |
2: 152,144,145 (GRCm38) |
|
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,978,796 (GRCm38) |
S94P |
possibly damaging |
Het |
| Trmt10b |
A |
T |
4: 45,308,508 (GRCm38) |
I223F |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,844,826 (GRCm38) |
G317* |
probably null |
Het |
| Urod |
T |
A |
4: 116,990,282 (GRCm38) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,555,395 (GRCm38) |
R52L |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,057,167 (GRCm38) |
Q232H |
probably damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,251,812 (GRCm38) |
P228Q |
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 |
|
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 |
2015-04-16 |
Incidental Mutation