Incidental Mutation 'R5587:Emc1'
ID |
438805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
MMRRC Submission |
043141-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5587 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139089459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 209
(E209G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
AlphaFold |
Q8C7X2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042096
AA Change: E382G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049034 Gene: ENSMUSG00000078517 AA Change: E382G
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: E382G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080888 Gene: ENSMUSG00000078517 AA Change: E382G
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 damaging
Transcript: ENSMUST00000155700
AA Change: E209G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: E382G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137103 Gene: ENSMUSG00000078517 AA Change: E382G
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 |
0.3862 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
96% (78/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,170 (GRCm39) |
R120G |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,940,966 (GRCm39) |
T3A |
probably benign |
Het |
Adamts18 |
G |
A |
8: 114,501,992 (GRCm39) |
Q290* |
probably null |
Het |
Ahnak |
A |
G |
19: 8,986,840 (GRCm39) |
D2708G |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,658,304 (GRCm39) |
C2105S |
probably benign |
Het |
Atp8b1 |
A |
T |
18: 64,672,281 (GRCm39) |
F1028I |
probably damaging |
Het |
Axdnd1 |
C |
G |
1: 156,178,982 (GRCm39) |
W615C |
probably damaging |
Het |
Bcl3 |
A |
T |
7: 19,543,559 (GRCm39) |
Y10* |
probably null |
Het |
Bmp2 |
T |
A |
2: 133,396,566 (GRCm39) |
V74E |
possibly damaging |
Het |
Ccdc121 |
G |
T |
5: 31,643,428 (GRCm39) |
G53W |
probably benign |
Het |
Ccdc78 |
C |
A |
17: 26,005,651 (GRCm39) |
P21Q |
probably benign |
Het |
Cluap1 |
T |
A |
16: 3,733,348 (GRCm39) |
V199E |
probably damaging |
Het |
Cntnap3 |
T |
C |
13: 64,894,552 (GRCm39) |
E1120G |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,540,531 (GRCm39) |
W1330R |
unknown |
Het |
Coq4 |
A |
G |
2: 29,685,526 (GRCm39) |
|
probably null |
Het |
Cwf19l1 |
G |
A |
19: 44,109,316 (GRCm39) |
T346I |
possibly damaging |
Het |
Cyct |
T |
C |
2: 76,184,547 (GRCm39) |
Y68C |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,870,977 (GRCm39) |
L2368P |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,328,068 (GRCm39) |
F3346I |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,968,295 (GRCm39) |
V259E |
probably damaging |
Het |
Dpyd |
A |
C |
3: 118,858,600 (GRCm39) |
S605R |
probably damaging |
Het |
Esrra |
A |
G |
19: 6,897,575 (GRCm39) |
S61P |
probably benign |
Het |
Garin2 |
C |
A |
12: 78,761,849 (GRCm39) |
P171H |
probably damaging |
Het |
Gbx2 |
T |
A |
1: 89,860,844 (GRCm39) |
|
probably benign |
Het |
Hepacam |
A |
G |
9: 37,295,980 (GRCm39) |
H377R |
probably damaging |
Het |
Igkv12-46 |
T |
C |
6: 69,741,534 (GRCm39) |
Y107C |
probably damaging |
Het |
Intu |
A |
G |
3: 40,629,738 (GRCm39) |
D356G |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,054 (GRCm39) |
N113Y |
probably damaging |
Het |
Krt86 |
G |
A |
15: 101,371,474 (GRCm39) |
A15T |
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,017,316 (GRCm39) |
S275R |
probably damaging |
Het |
Lingo3 |
A |
T |
10: 80,671,364 (GRCm39) |
S189T |
probably damaging |
Het |
Llgl1 |
T |
A |
11: 60,601,168 (GRCm39) |
M702K |
probably benign |
Het |
Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
Lrit3 |
G |
T |
3: 129,582,547 (GRCm39) |
A359E |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,329,607 (GRCm39) |
E1720G |
probably benign |
Het |
Mcub |
A |
C |
3: 129,710,619 (GRCm39) |
V271G |
probably benign |
Het |
Nktr |
C |
T |
9: 121,577,555 (GRCm39) |
|
probably benign |
Het |
Or10g9 |
A |
T |
9: 39,911,917 (GRCm39) |
I202N |
possibly damaging |
Het |
Or13p4 |
T |
A |
4: 118,547,067 (GRCm39) |
D194V |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,633 (GRCm39) |
Q100L |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,540 (GRCm39) |
L82Q |
probably damaging |
Het |
Or52z12 |
T |
A |
7: 103,233,738 (GRCm39) |
Y170N |
probably benign |
Het |
Or9i1 |
G |
A |
19: 13,839,940 (GRCm39) |
R261H |
probably damaging |
Het |
Pcdha4 |
T |
C |
18: 37,087,875 (GRCm39) |
V686A |
probably benign |
Het |
Pelo |
A |
G |
13: 115,226,409 (GRCm39) |
V16A |
possibly damaging |
Het |
Plcd1 |
A |
G |
9: 118,902,900 (GRCm39) |
S539P |
probably benign |
Het |
Prss1 |
A |
G |
6: 41,440,199 (GRCm39) |
I179V |
possibly damaging |
Het |
Ptgs2 |
T |
C |
1: 149,981,306 (GRCm39) |
Y530H |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,080,685 (GRCm39) |
V1583A |
probably damaging |
Het |
Raph1 |
T |
G |
1: 60,537,632 (GRCm39) |
D508A |
probably damaging |
Het |
Rmnd5a |
A |
G |
6: 71,371,603 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,311,328 (GRCm39) |
L686P |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,373,291 (GRCm39) |
I1323M |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,103,425 (GRCm39) |
N1934S |
probably benign |
Het |
Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,244,863 (GRCm39) |
|
probably null |
Het |
Sis |
A |
G |
3: 72,821,909 (GRCm39) |
I1384T |
possibly damaging |
Het |
Spata31d1a |
A |
C |
13: 59,850,432 (GRCm39) |
C565W |
probably damaging |
Het |
Srbd1 |
T |
A |
17: 86,435,229 (GRCm39) |
Q278L |
probably damaging |
Het |
Sry |
T |
C |
Y: 2,662,625 (GRCm39) |
H345R |
unknown |
Het |
Suox |
A |
T |
10: 128,507,694 (GRCm39) |
D111E |
probably damaging |
Het |
Taar7a |
A |
T |
10: 23,868,726 (GRCm39) |
F218L |
probably benign |
Het |
Tfcp2l1 |
C |
A |
1: 118,592,492 (GRCm39) |
N288K |
possibly damaging |
Het |
Tmem128 |
G |
T |
5: 38,417,765 (GRCm39) |
R7L |
possibly damaging |
Het |
Tmem266 |
A |
G |
9: 55,344,850 (GRCm39) |
N494S |
probably damaging |
Het |
Tmprss3 |
T |
A |
17: 31,412,966 (GRCm39) |
H80L |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,640,097 (GRCm39) |
Q1211* |
probably null |
Het |
Tns1 |
T |
A |
1: 73,959,755 (GRCm39) |
D1671V |
possibly damaging |
Het |
Trmt1l |
T |
A |
1: 151,311,455 (GRCm39) |
|
probably benign |
Het |
Tshz2 |
A |
T |
2: 169,726,262 (GRCm39) |
D286V |
probably damaging |
Het |
Ttyh2 |
A |
G |
11: 114,566,485 (GRCm39) |
E39G |
probably benign |
Het |
Vmn2r125 |
G |
A |
4: 156,702,433 (GRCm39) |
C73Y |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Vmn2r61 |
T |
C |
7: 41,949,911 (GRCm39) |
F777S |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,995,427 (GRCm39) |
E407G |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,379,458 (GRCm39) |
N521S |
probably damaging |
Het |
Zan |
C |
G |
5: 137,390,024 (GRCm39) |
S4816T |
unknown |
Het |
Zc3h7b |
T |
C |
15: 81,656,059 (GRCm39) |
Y136H |
possibly damaging |
Het |
Zfp101 |
T |
C |
17: 33,600,295 (GRCm39) |
K487R |
possibly damaging |
Het |
|
Other mutations in Emc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Emc1
|
APN |
4 |
139,082,393 (GRCm39) |
splice site |
probably benign |
|
IGL00898:Emc1
|
APN |
4 |
139,098,941 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01481:Emc1
|
APN |
4 |
139,089,410 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02174:Emc1
|
APN |
4 |
139,098,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02264:Emc1
|
APN |
4 |
139,102,775 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02501:Emc1
|
APN |
4 |
139,098,295 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02697:Emc1
|
APN |
4 |
139,079,955 (GRCm39) |
missense |
probably benign |
|
IGL03355:Emc1
|
APN |
4 |
139,098,904 (GRCm39) |
splice site |
probably benign |
|
IGL03386:Emc1
|
APN |
4 |
139,091,092 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4480001:Emc1
|
UTSW |
4 |
139,086,588 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0023:Emc1
|
UTSW |
4 |
139,098,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Emc1
|
UTSW |
4 |
139,098,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Emc1
|
UTSW |
4 |
139,102,474 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0094:Emc1
|
UTSW |
4 |
139,087,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R0613:Emc1
|
UTSW |
4 |
139,102,383 (GRCm39) |
splice site |
probably benign |
|
R1464:Emc1
|
UTSW |
4 |
139,098,248 (GRCm39) |
missense |
probably damaging |
0.97 |
R1464:Emc1
|
UTSW |
4 |
139,098,248 (GRCm39) |
missense |
probably damaging |
0.97 |
R1512:Emc1
|
UTSW |
4 |
139,087,495 (GRCm39) |
splice site |
probably null |
|
R1702:Emc1
|
UTSW |
4 |
139,102,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Emc1
|
UTSW |
4 |
139,087,796 (GRCm39) |
missense |
probably damaging |
0.98 |
R1843:Emc1
|
UTSW |
4 |
139,102,823 (GRCm39) |
missense |
probably benign |
0.02 |
R1850:Emc1
|
UTSW |
4 |
139,086,684 (GRCm39) |
splice site |
probably benign |
|
R2024:Emc1
|
UTSW |
4 |
139,088,257 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2196:Emc1
|
UTSW |
4 |
139,093,841 (GRCm39) |
missense |
probably benign |
0.08 |
R2912:Emc1
|
UTSW |
4 |
139,092,571 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3696:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3697:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3698:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3803:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3923:Emc1
|
UTSW |
4 |
139,090,496 (GRCm39) |
nonsense |
probably null |
|
R4738:Emc1
|
UTSW |
4 |
139,089,513 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4914:Emc1
|
UTSW |
4 |
139,102,476 (GRCm39) |
nonsense |
probably null |
|
R5033:Emc1
|
UTSW |
4 |
139,099,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R5322:Emc1
|
UTSW |
4 |
139,081,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Emc1
|
UTSW |
4 |
139,093,802 (GRCm39) |
missense |
probably damaging |
0.96 |
R5483:Emc1
|
UTSW |
4 |
139,102,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Emc1
|
UTSW |
4 |
139,102,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Emc1
|
UTSW |
4 |
139,084,931 (GRCm39) |
missense |
probably benign |
|
R6056:Emc1
|
UTSW |
4 |
139,081,533 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6170:Emc1
|
UTSW |
4 |
139,093,689 (GRCm39) |
missense |
probably benign |
0.01 |
R6174:Emc1
|
UTSW |
4 |
139,093,842 (GRCm39) |
missense |
probably benign |
0.01 |
R6208:Emc1
|
UTSW |
4 |
139,081,582 (GRCm39) |
missense |
probably damaging |
0.99 |
R6340:Emc1
|
UTSW |
4 |
139,092,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R6371:Emc1
|
UTSW |
4 |
139,098,976 (GRCm39) |
nonsense |
probably null |
|
R6889:Emc1
|
UTSW |
4 |
139,092,661 (GRCm39) |
missense |
probably damaging |
0.97 |
R7592:Emc1
|
UTSW |
4 |
139,087,877 (GRCm39) |
missense |
probably benign |
0.00 |
R7699:Emc1
|
UTSW |
4 |
139,082,181 (GRCm39) |
missense |
probably benign |
|
R7715:Emc1
|
UTSW |
4 |
139,098,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7984:Emc1
|
UTSW |
4 |
139,102,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8112:Emc1
|
UTSW |
4 |
139,094,498 (GRCm39) |
missense |
probably benign |
0.00 |
R8325:Emc1
|
UTSW |
4 |
139,092,521 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8387:Emc1
|
UTSW |
4 |
139,088,600 (GRCm39) |
missense |
probably benign |
|
R8751:Emc1
|
UTSW |
4 |
139,097,279 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9032:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9085:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9474:Emc1
|
UTSW |
4 |
139,093,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R9482:Emc1
|
UTSW |
4 |
139,088,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R9610:Emc1
|
UTSW |
4 |
139,091,035 (GRCm39) |
missense |
probably benign |
0.38 |
R9611:Emc1
|
UTSW |
4 |
139,091,035 (GRCm39) |
missense |
probably benign |
0.38 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCCTTCTCAGATGCACAGTAG -3'
(R):5'- TAGCTCTGGAGGAACTAGGG -3'
Sequencing Primer
(F):5'- CAGCAACTTGTTTCTGCTGTAGGC -3'
(R):5'- GGCCTGTTCAGAGAGCCCTAATC -3'
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Posted On |
2016-10-26 |