Incidental Mutation 'IGL03355:Emc1'
ID |
419931 |
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: 0.966)
|
Stock # |
IGL03355
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 139098904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
AlphaFold |
Q8C7X2 |
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: 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 |
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 |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt1 |
T |
C |
X: 45,418,624 (GRCm39) |
V213A |
probably benign |
Het |
Adam28 |
A |
T |
14: 68,872,252 (GRCm39) |
|
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,644 (GRCm39) |
H557R |
probably benign |
Het |
Atmin |
T |
A |
8: 117,684,164 (GRCm39) |
L608* |
probably null |
Het |
B3gnt5 |
A |
T |
16: 19,587,903 (GRCm39) |
M41L |
probably benign |
Het |
Best3 |
T |
C |
10: 116,829,010 (GRCm39) |
F97L |
possibly damaging |
Het |
Chmp1b2 |
C |
A |
X: 106,831,889 (GRCm39) |
V180F |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,807,228 (GRCm39) |
V2486M |
unknown |
Het |
Crym |
T |
C |
7: 119,798,536 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,482,868 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
G |
1: 46,158,464 (GRCm39) |
D349G |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,878,074 (GRCm39) |
|
probably benign |
Het |
Eps8 |
T |
C |
6: 137,489,143 (GRCm39) |
|
probably benign |
Het |
Ereg |
A |
G |
5: 91,236,440 (GRCm39) |
|
probably benign |
Het |
Faah |
G |
A |
4: 115,859,725 (GRCm39) |
P369S |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,068,249 (GRCm39) |
N703K |
possibly damaging |
Het |
Frmpd1 |
T |
C |
4: 45,279,140 (GRCm39) |
S622P |
probably damaging |
Het |
Gm10030 |
A |
G |
9: 110,835,841 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
A |
T |
11: 97,228,434 (GRCm39) |
S1240R |
possibly damaging |
Het |
Hax1 |
A |
T |
3: 89,904,754 (GRCm39) |
H146Q |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,693,445 (GRCm39) |
N31D |
possibly damaging |
Het |
Kel |
C |
T |
6: 41,675,821 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,086,904 (GRCm39) |
I108L |
probably benign |
Het |
Morc4 |
T |
C |
X: 138,750,431 (GRCm39) |
N375S |
probably null |
Het |
Mta3 |
A |
T |
17: 84,107,474 (GRCm39) |
|
probably benign |
Het |
Nacc2 |
T |
C |
2: 25,952,249 (GRCm39) |
K369R |
probably damaging |
Het |
Nkap |
T |
C |
X: 36,403,323 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,928,618 (GRCm39) |
L6016Q |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,408 (GRCm39) |
E182G |
probably damaging |
Het |
Or8c9 |
A |
T |
9: 38,240,952 (GRCm39) |
Q20L |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,199,244 (GRCm39) |
L182Q |
probably damaging |
Het |
Pla2g10 |
G |
T |
16: 13,548,284 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
T |
A |
11: 74,303,170 (GRCm39) |
I426F |
probably damaging |
Het |
Rbm33 |
C |
A |
5: 28,596,059 (GRCm39) |
|
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,881 (GRCm39) |
D635E |
probably benign |
Het |
Sar1a |
T |
C |
10: 61,520,718 (GRCm39) |
V15A |
possibly damaging |
Het |
Scarb1 |
A |
C |
5: 125,366,766 (GRCm39) |
S56A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,290,912 (GRCm39) |
K1945E |
possibly damaging |
Het |
Sec62 |
G |
A |
3: 30,864,071 (GRCm39) |
G118R |
unknown |
Het |
Sgce |
T |
A |
6: 4,689,738 (GRCm39) |
Q356L |
probably damaging |
Het |
Slco4c1 |
A |
T |
1: 96,770,232 (GRCm39) |
Y277* |
probably null |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,258,224 (GRCm39) |
I173N |
probably damaging |
Het |
Spred3 |
C |
T |
7: 28,860,997 (GRCm39) |
C394Y |
unknown |
Het |
Stra6l |
A |
G |
4: 45,873,689 (GRCm39) |
D283G |
probably benign |
Het |
Tipin |
A |
T |
9: 64,195,406 (GRCm39) |
Q4L |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,379,730 (GRCm39) |
I380F |
probably benign |
Het |
Tymp |
T |
C |
15: 89,259,219 (GRCm39) |
D195G |
possibly damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,054,544 (GRCm39) |
Y79F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,580 (GRCm39) |
S596T |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,346 (GRCm39) |
S1024P |
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 |
|
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 |
R5587:Emc1
|
UTSW |
4 |
139,089,459 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2016-08-02 |