Incidental Mutation 'R8325:Emc1'
| ID |
644039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
067857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R8325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139365210 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 487
(M487K)
|
| 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: M484K
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: M484K
| 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 |
possibly damaging
Transcript: ENSMUST00000082262
AA Change: M487K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: M487K
| 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
AA Change: M487K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: M487K
| 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: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
C |
15: 89,569,751 (GRCm38) |
V97A |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,173,662 (GRCm38) |
G1081D |
probably benign |
Het |
| Ang2 |
A |
G |
14: 51,195,503 (GRCm38) |
S141P |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,484,489 (GRCm38) |
|
probably null |
Het |
| Apba2 |
A |
T |
7: 64,695,982 (GRCm38) |
T307S |
probably benign |
Het |
| AU019823 |
T |
C |
9: 50,610,308 (GRCm38) |
I104M |
probably benign |
Het |
| Cadm2 |
T |
A |
16: 66,815,450 (GRCm38) |
N84Y |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,939,363 (GRCm38) |
D783G |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 123,954,385 (GRCm38) |
C478R |
probably benign |
Het |
| Cep290 |
A |
C |
10: 100,517,808 (GRCm38) |
H801P |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,162,763 (GRCm38) |
Y555* |
probably null |
Het |
| Cmas |
T |
C |
6: 142,771,339 (GRCm38) |
|
probably null |
Het |
| Cmtm7 |
T |
C |
9: 114,763,347 (GRCm38) |
I61V |
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,778,825 (GRCm38) |
S236P |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,215,436 (GRCm38) |
Q438* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,258,285 (GRCm38) |
Q678R |
probably damaging |
Het |
| Gm7361 |
T |
C |
5: 26,262,156 (GRCm38) |
S258P |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,307,649 (GRCm38) |
I96M |
probably benign |
Het |
| Ifi27l2a |
G |
A |
12: 103,442,885 (GRCm38) |
A49V |
unknown |
Het |
| Igkv10-96 |
T |
C |
6: 68,632,104 (GRCm38) |
Y69C |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,318,533 (GRCm38) |
V2573D |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,631,578 (GRCm38) |
N14S |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,626,922 (GRCm38) |
T94A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,082,394 (GRCm38) |
V324E |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,247,418 (GRCm38) |
K481E |
probably benign |
Het |
| Met |
A |
G |
6: 17,571,672 (GRCm38) |
E1330G |
probably damaging |
Het |
| Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,432,215 (GRCm38) |
|
probably null |
Het |
| Mss51 |
T |
C |
14: 20,484,703 (GRCm38) |
D333G |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,705,603 (GRCm38) |
V1933A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,288,795 (GRCm38) |
Y212C |
probably damaging |
Het |
| Npsr1 |
C |
T |
9: 24,286,822 (GRCm38) |
|
probably benign |
Het |
| Nt5e |
A |
G |
9: 88,363,562 (GRCm38) |
E295G |
probably benign |
Het |
| Olfr1160 |
A |
T |
2: 88,006,193 (GRCm38) |
L186Q |
probably damaging |
Het |
| Olfr449 |
T |
C |
6: 42,838,190 (GRCm38) |
F103S |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,582,611 (GRCm38) |
T136A |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 36,930,814 (GRCm38) |
D177V |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,692,920 (GRCm38) |
S308C |
probably damaging |
Het |
| Pdhx |
G |
T |
2: 103,042,252 (GRCm38) |
P162T |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,286,268 (GRCm38) |
R98Q |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,212,982 (GRCm38) |
T895A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,430,445 (GRCm38) |
N1243S |
|
Het |
| Serpinb1b |
A |
T |
13: 33,093,601 (GRCm38) |
K272N |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,428,116 (GRCm38) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,146,257 (GRCm38) |
M739K |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,240,038 (GRCm38) |
|
probably null |
Het |
| Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm38) |
D35G |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,804,711 (GRCm38) |
V549A |
probably damaging |
Het |
| Usp18 |
T |
C |
6: 121,253,810 (GRCm38) |
L66S |
probably damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm38) |
S295N |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,241,942 (GRCm38) |
D311G |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,136,363 (GRCm38) |
A764D |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,967,487 (GRCm38) |
I3031F |
|
Het |
| Wdr7 |
A |
G |
18: 63,778,464 (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 |
|
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 |
|
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'- GATTCTAGGTAGGTGAAGTCCTAG -3'
(R):5'- AGGCTGTTACCGTCACCATC -3'
Sequencing Primer
(F):5'- TAGGTGAAGTCCTAGGAGCC -3'
(R):5'- ACCATCATTTTCTGCAGGTTGAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation