Incidental Mutation 'R7592:Emc1'
| ID |
587443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
045639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R7592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139360566 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 300
(H300R)
|
| 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: H300R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: H300R
| 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: H300R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: H300R
| 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: H127R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179784
AA Change: H300R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: H300R
| 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 |
0.0767 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,849,274 (GRCm38) |
T204A |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,288,677 (GRCm38) |
T1415A |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,337,251 (GRCm38) |
T24A |
probably benign |
Het |
| Ankrd13b |
A |
C |
11: 77,476,501 (GRCm38) |
V194G |
probably benign |
Het |
| Aurkc |
C |
T |
7: 7,000,007 (GRCm38) |
T167I |
probably benign |
Het |
| BC100530 |
A |
T |
16: 36,367,500 (GRCm38) |
M1K |
probably null |
Het |
| Capn1 |
T |
C |
19: 6,014,439 (GRCm38) |
Y10C |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,186,465 (GRCm38) |
S14P |
possibly damaging |
Het |
| Cebpe |
T |
A |
14: 54,711,841 (GRCm38) |
I40F |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,789,629 (GRCm38) |
C296Y |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,050,229 (GRCm38) |
C505S |
possibly damaging |
Het |
| Col4a3 |
A |
G |
1: 82,648,617 (GRCm38) |
I92V |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,797,393 (GRCm38) |
H645L |
unknown |
Het |
| Crispld1 |
A |
T |
1: 17,728,766 (GRCm38) |
E37V |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,463,798 (GRCm38) |
Y1684C |
|
Het |
| Dcst1 |
C |
A |
3: 89,353,292 (GRCm38) |
S555I |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,341,716 (GRCm38) |
S70G |
possibly damaging |
Het |
| Elavl2 |
A |
T |
4: 91,311,571 (GRCm38) |
|
probably null |
Het |
| Gcnt4 |
G |
A |
13: 96,947,161 (GRCm38) |
V322I |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,774,758 (GRCm38) |
N51D |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,223,324 (GRCm38) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 123,997,973 (GRCm38) |
E579G |
probably benign |
Het |
| Hoxa4 |
T |
C |
6: 52,191,540 (GRCm38) |
H50R |
unknown |
Het |
| Htr7 |
T |
C |
19: 36,056,892 (GRCm38) |
Y121C |
probably damaging |
Het |
| Ift43 |
G |
A |
12: 86,161,190 (GRCm38) |
D111N |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,908,765 (GRCm38) |
V863A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,893 (GRCm38) |
|
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,210,992 (GRCm38) |
K7E |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,570,787 (GRCm38) |
V371E |
probably damaging |
Het |
| Npr1 |
T |
G |
3: 90,465,016 (GRCm38) |
D163A |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,006,594 (GRCm38) |
I330V |
probably benign |
Het |
| Olfr434 |
T |
G |
6: 43,217,245 (GRCm38) |
C111G |
probably damaging |
Het |
| Olfr630 |
C |
A |
7: 103,755,072 (GRCm38) |
C171F |
probably damaging |
Het |
| Olfr730 |
T |
A |
14: 50,186,563 (GRCm38) |
Y219F |
probably damaging |
Het |
| Olfr850 |
C |
A |
9: 19,477,832 (GRCm38) |
M139I |
possibly damaging |
Het |
| Poc1a |
A |
T |
9: 106,349,768 (GRCm38) |
R402S |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,123,213 (GRCm38) |
V470L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,063,127 (GRCm38) |
E93G |
probably damaging |
Het |
| Psma1 |
A |
T |
7: 114,269,726 (GRCm38) |
M180K |
probably benign |
Het |
| Pudp |
A |
T |
18: 50,567,982 (GRCm38) |
F227I |
probably damaging |
Het |
| Rab15 |
T |
A |
12: 76,804,449 (GRCm38) |
Q60L |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,171,222 (GRCm38) |
|
probably null |
Het |
| Sept9 |
T |
A |
11: 117,290,662 (GRCm38) |
I96N |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,978,050 (GRCm38) |
S976P |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,664,903 (GRCm38) |
Y219C |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,695,355 (GRCm38) |
I213K |
probably damaging |
Het |
| Stil |
T |
A |
4: 115,023,808 (GRCm38) |
D516E |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,707,122 (GRCm38) |
D184G |
probably damaging |
Het |
| Tarsl2 |
G |
A |
7: 65,658,871 (GRCm38) |
S263N |
probably benign |
Het |
| Tmem181a |
C |
A |
17: 6,289,020 (GRCm38) |
T68K |
probably benign |
Het |
| Trav21-dv12 |
G |
T |
14: 53,876,540 (GRCm38) |
C39F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,014,048 (GRCm38) |
E745G |
probably damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,088,182 (GRCm38) |
F106I |
probably benign |
Het |
| Vmn1r39 |
C |
A |
6: 66,804,444 (GRCm38) |
V297L |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,591,181 (GRCm38) |
|
probably null |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,411,560 (GRCm38) |
|
probably null |
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 |
|
IGL02174:Emc1
|
APN |
4 |
139,371,668 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTAGTCTTGATGGTTCGGG -3'
(R):5'- CAGGGTCCAAAAGTTCTGCCTC -3'
Sequencing Primer
(F):5'- CGGGAGGGGTAAACTGTTCACTC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation