Incidental Mutation 'R8387:Emc1'
ID |
647199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
MMRRC Submission |
067876-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R8387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139088600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 353
(S353P)
|
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: S353P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049034 Gene: ENSMUSG00000078517 AA Change: S353P
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
AA Change: S353P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080888 Gene: ENSMUSG00000078517 AA Change: S353P
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
AA Change: S180P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179784
AA Change: S353P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137103 Gene: ENSMUSG00000078517 AA Change: S353P
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 |
0.0789 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
Dhtkd1 |
C |
A |
2: 5,934,479 (GRCm39) |
L230F |
possibly damaging |
Het |
Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
Flvcr1 |
A |
G |
1: 190,743,731 (GRCm39) |
|
probably null |
Het |
Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
Nr4a1 |
T |
C |
15: 101,171,053 (GRCm39) |
S510P |
probably damaging |
Het |
Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,984,595 (GRCm39) |
S195P |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
probably 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 |
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 |
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'- CAGCTTTCTACAGAGACTCCAC -3'
(R):5'- TACTTGGACCCCACCTGAAG -3'
Sequencing Primer
(F):5'- AGGATCCTGATGTAGCCACCTTAG -3'
(R):5'- CACCTGAAGCTGAGGACTC -3'
|
Posted On |
2020-09-02 |