Incidental Mutation 'R0613:Emc1'
ID |
54875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
MMRRC Submission |
038802-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0613 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 139102383 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acd |
A |
T |
8: 106,427,200 (GRCm39) |
|
probably null |
Het |
Adcy9 |
A |
G |
16: 4,237,403 (GRCm39) |
S3P |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,248,859 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,004 (GRCm39) |
E700G |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,596,979 (GRCm39) |
S56P |
probably damaging |
Het |
Atp12a |
T |
A |
14: 56,611,978 (GRCm39) |
I384N |
probably damaging |
Het |
Brca1 |
A |
T |
11: 101,399,036 (GRCm39) |
S1519T |
probably benign |
Het |
Ccl25 |
T |
C |
8: 4,399,850 (GRCm39) |
V94A |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,602,246 (GRCm39) |
T287A |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,752,209 (GRCm39) |
S383P |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,906,228 (GRCm39) |
F793I |
probably damaging |
Het |
Ctsm |
T |
C |
13: 61,687,496 (GRCm39) |
R89G |
probably damaging |
Het |
Cyp2j12 |
T |
G |
4: 95,990,316 (GRCm39) |
T417P |
probably damaging |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Edn2 |
T |
A |
4: 120,019,061 (GRCm39) |
|
probably null |
Het |
Entrep1 |
T |
A |
19: 23,963,853 (GRCm39) |
N239Y |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,848,347 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,824,139 (GRCm39) |
D6624V |
probably damaging |
Het |
Gpr107 |
A |
G |
2: 31,068,297 (GRCm39) |
Y253C |
probably damaging |
Het |
Gpr108 |
A |
G |
17: 57,545,174 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
G |
16: 87,848,221 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,737,721 (GRCm39) |
N293K |
probably damaging |
Het |
Hps6 |
C |
A |
19: 45,992,260 (GRCm39) |
P66T |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,081,033 (GRCm39) |
V216E |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,145,156 (GRCm39) |
M224K |
probably benign |
Het |
Igsf9b |
T |
C |
9: 27,238,216 (GRCm39) |
V569A |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,884,168 (GRCm39) |
I952F |
probably damaging |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Khdrbs2 |
A |
G |
1: 32,696,603 (GRCm39) |
H344R |
possibly damaging |
Het |
Kmo |
C |
A |
1: 175,465,458 (GRCm39) |
R71S |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,739,184 (GRCm39) |
|
probably benign |
Het |
Map1b |
T |
A |
13: 99,578,149 (GRCm39) |
D168V |
probably damaging |
Het |
Mfsd6 |
T |
C |
1: 52,697,855 (GRCm39) |
|
probably benign |
Het |
Mgst1 |
G |
A |
6: 138,133,243 (GRCm39) |
G186D |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,299,630 (GRCm39) |
A740V |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,610,503 (GRCm39) |
Y1605H |
possibly damaging |
Het |
Ncoa4 |
T |
A |
14: 31,898,509 (GRCm39) |
L443Q |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,060,807 (GRCm39) |
|
probably benign |
Het |
Nepn |
T |
A |
10: 52,277,353 (GRCm39) |
L363Q |
probably damaging |
Het |
Nfat5 |
A |
G |
8: 108,092,927 (GRCm39) |
T630A |
possibly damaging |
Het |
Nipal4 |
A |
T |
11: 46,041,211 (GRCm39) |
V328E |
probably benign |
Het |
Or11h4b |
T |
A |
14: 50,918,861 (GRCm39) |
I77F |
probably benign |
Het |
Or2y1e |
T |
A |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
Or4c122 |
A |
T |
2: 89,079,469 (GRCm39) |
C178S |
probably damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,053 (GRCm39) |
V223E |
possibly damaging |
Het |
Or6c76 |
T |
A |
10: 129,612,131 (GRCm39) |
M116K |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,909 (GRCm39) |
C166* |
probably null |
Het |
Otogl |
A |
T |
10: 107,652,931 (GRCm39) |
N1140K |
probably damaging |
Het |
Ppip5k2 |
A |
C |
1: 97,680,465 (GRCm39) |
Y236* |
probably null |
Het |
Prelid1 |
C |
T |
13: 55,472,156 (GRCm39) |
R111* |
probably null |
Het |
Prpf8 |
T |
C |
11: 75,394,270 (GRCm39) |
L1771P |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,138,230 (GRCm39) |
Y378F |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,138,283 (GRCm39) |
T396A |
possibly damaging |
Het |
Rab3il1 |
T |
C |
19: 10,005,728 (GRCm39) |
L174P |
probably damaging |
Het |
Rab4a |
T |
C |
8: 124,550,574 (GRCm39) |
V18A |
possibly damaging |
Het |
Scn3a |
T |
A |
2: 65,302,628 (GRCm39) |
M1273L |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,413 (GRCm39) |
V156E |
probably benign |
Het |
Slco3a1 |
T |
C |
7: 73,996,382 (GRCm39) |
|
probably benign |
Het |
Syne3 |
T |
C |
12: 104,924,371 (GRCm39) |
T343A |
probably benign |
Het |
Syt11 |
A |
G |
3: 88,669,776 (GRCm39) |
C39R |
probably damaging |
Het |
Tll2 |
G |
T |
19: 41,093,429 (GRCm39) |
D462E |
probably damaging |
Het |
Tmem132e |
T |
A |
11: 82,329,164 (GRCm39) |
V481D |
probably damaging |
Het |
Tmem161b |
C |
T |
13: 84,399,439 (GRCm39) |
L17F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,428,578 (GRCm39) |
I833F |
probably damaging |
Het |
Vstm2a |
A |
T |
11: 16,213,140 (GRCm39) |
N175I |
probably damaging |
Het |
Xpnpep1 |
G |
T |
19: 52,994,784 (GRCm39) |
D238E |
probably damaging |
Het |
Zfp112 |
G |
A |
7: 23,826,453 (GRCm39) |
G807D |
probably benign |
Het |
Zfp518b |
A |
T |
5: 38,830,946 (GRCm39) |
V353E |
probably damaging |
Het |
Zfp69 |
T |
C |
4: 120,791,544 (GRCm39) |
E39G |
probably benign |
Het |
Zfp865 |
A |
G |
7: 5,032,090 (GRCm39) |
H25R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAGAATGAACCAGACTGAGGCG -3'
(R):5'- ATGTGGGGCCACTCACCAAACAAG -3'
Sequencing Primer
(F):5'- gttctcctgtctctgcttcc -3'
(R):5'- AACAAGTGGACTCCAGGC -3'
|
Posted On |
2013-07-11 |