Incidental Mutation 'R9482:Emc1'
| ID |
716297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R9482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 139360890 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 323
(V323G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042096
AA Change: V323G
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: V323G
| 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 damaging
Transcript: ENSMUST00000082262
AA Change: V323G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: V323G
| 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: V150G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: V323G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: V323G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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 |
|---|
| Adgrg6 |
A |
G |
10: 14,431,679 (GRCm38) |
V793A |
probably benign |
Het |
| Als2 |
G |
T |
1: 59,191,950 (GRCm38) |
P834Q |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 103,028,474 (GRCm38) |
T45A |
probably benign |
Het |
| Angptl7 |
T |
G |
4: 148,500,118 (GRCm38) |
S58R |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 45,159,118 (GRCm38) |
T7A |
probably benign |
Het |
| Bpifc |
A |
T |
10: 85,979,254 (GRCm38) |
S283T |
possibly damaging |
Het |
| C2cd2l |
T |
A |
9: 44,316,617 (GRCm38) |
E231V |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,855,345 (GRCm38) |
V83A |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,868,035 (GRCm38) |
E178G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,215,384 (GRCm38) |
L1236Q |
probably benign |
Het |
| Dleu7 |
T |
C |
14: 62,276,902 (GRCm38) |
*210W |
probably null |
Het |
| Fcrla |
T |
C |
1: 170,918,380 (GRCm38) |
T278A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,661,670 (GRCm38) |
T13A |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 57,857,515 (GRCm38) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,255,185 (GRCm38) |
V203A |
possibly damaging |
Het |
| Gm14139 |
C |
A |
2: 150,192,791 (GRCm38) |
T344K |
probably benign |
Het |
| Gm3149 |
T |
A |
14: 4,320,208 (GRCm38) |
V169E |
probably benign |
Het |
| Hjurp |
CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA |
C |
1: 88,266,274 (GRCm38) |
|
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,734,530 (GRCm38) |
S1463P |
probably benign |
Het |
| Jsrp1 |
A |
T |
10: 80,808,900 (GRCm38) |
I224N |
possibly damaging |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 189,256,694 (GRCm38) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,390,965 (GRCm38) |
M591K |
probably benign |
Het |
| Kmt2d |
A |
C |
15: 98,865,165 (GRCm38) |
W268G |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,848,487 (GRCm38) |
S417P |
unknown |
Het |
| Lpin3 |
T |
C |
2: 160,904,496 (GRCm38) |
F692L |
probably damaging |
Het |
| Mrvi1 |
A |
T |
7: 110,946,052 (GRCm38) |
D12E |
probably benign |
Het |
| Mycbp |
T |
C |
4: 123,910,087 (GRCm38) |
C130R |
unknown |
Het |
| Myh1 |
T |
C |
11: 67,217,919 (GRCm38) |
I1387T |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,633,998 (GRCm38) |
D1333G |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 64,887,960 (GRCm38) |
|
probably benign |
Het |
| Nucks1 |
A |
G |
1: 131,919,006 (GRCm38) |
N7D |
probably benign |
Het |
| Nup210 |
A |
G |
6: 91,042,626 (GRCm38) |
I991T |
probably damaging |
Het |
| Olfr1245 |
C |
T |
2: 89,575,609 (GRCm38) |
G39D |
probably damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,301,683 (GRCm38) |
D234G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,919,052 (GRCm38) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,362,054 (GRCm38) |
T1070I |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,113,680 (GRCm38) |
L305F |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,790,696 (GRCm38) |
D100G |
probably benign |
Het |
| Rb1 |
A |
C |
14: 73,206,053 (GRCm38) |
M754R |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,792,009 (GRCm38) |
Q568R |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,819,695 (GRCm38) |
|
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,450,725 (GRCm38) |
S41P |
possibly damaging |
Het |
| Serf2 |
C |
A |
2: 121,450,724 (GRCm38) |
D40E |
possibly damaging |
Het |
| Sh2b1 |
AGCTC |
AGCTCAGCCACGGGGACCCGCTC |
7: 126,467,596 (GRCm38) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 19,038,061 (GRCm38) |
R350L |
possibly damaging |
Het |
| Tab2 |
C |
A |
10: 7,919,360 (GRCm38) |
V379L |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,852,840 (GRCm38) |
T485P |
probably benign |
Het |
| Trmt6 |
T |
C |
2: 132,806,779 (GRCm38) |
T412A |
probably benign |
Het |
| Vgll3 |
A |
G |
16: 65,839,343 (GRCm38) |
T182A |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,212,803 (GRCm38) |
S80P |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,244,465 (GRCm38) |
L2122S |
probably damaging |
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 |
|
R7592:Emc1
|
UTSW |
4 |
139,360,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GCCGTGACTCTGCTTAAGAAC -3'
(R):5'- TGGAGTCTCTGTAGAAAGCTGTAG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCTCTGTAGAAAGCTGTAGAGATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation