Incidental Mutation 'R9085:Emc1'
| ID |
690517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
068904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R9085 (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 C
at 139367163 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 676
(Y676H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042096
AA Change: Y673H
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: Y673H
| 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: Y676H
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: Y676H
| 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 |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: Y676H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: Y676H
| 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 |
0.8014 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| Afg1l |
G |
A |
10: 42,318,641 (GRCm38) |
T385M |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 122,014,600 (GRCm38) |
D1142E |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,981,987 (GRCm38) |
A391V |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,984,222 (GRCm38) |
V1136A |
probably benign |
Het |
| Cacna1c |
G |
T |
6: 118,638,505 (GRCm38) |
Y1308* |
probably null |
Het |
| Cacna1g |
A |
T |
11: 94,443,220 (GRCm38) |
V865E |
probably benign |
Het |
| Cbx2 |
C |
T |
11: 119,029,088 (GRCm38) |
T493M |
possibly damaging |
Het |
| Cyp2a12 |
T |
C |
7: 27,036,519 (GRCm38) |
F451S |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 119,124,184 (GRCm38) |
C572F |
probably damaging |
Het |
| Dmtn |
A |
G |
14: 70,616,094 (GRCm38) |
S92P |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,762,173 (GRCm38) |
L1225P |
|
Het |
| Dnah2 |
G |
T |
11: 69,429,398 (GRCm38) |
H3954Q |
possibly damaging |
Het |
| Dntt |
C |
T |
19: 41,055,781 (GRCm38) |
R462C |
probably damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,041,064 (GRCm38) |
|
probably null |
Het |
| Fer |
T |
A |
17: 63,921,772 (GRCm38) |
M214K |
probably damaging |
Het |
| Fgf17 |
A |
G |
14: 70,636,996 (GRCm38) |
F129L |
probably damaging |
Het |
| Foxn3 |
C |
T |
12: 99,388,836 (GRCm38) |
S23N |
probably damaging |
Het |
| Frmd4b |
A |
C |
6: 97,292,373 (GRCm38) |
S993A |
probably benign |
Het |
| Gdap1l1 |
T |
C |
2: 163,438,588 (GRCm38) |
W15R |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,492,217 (GRCm38) |
S640T |
probably benign |
Het |
| Gucy2g |
A |
T |
19: 55,233,165 (GRCm38) |
Y301* |
probably null |
Het |
| Il31ra |
T |
C |
13: 112,524,094 (GRCm38) |
S654G |
|
Het |
| Lmnb2 |
T |
C |
10: 80,904,257 (GRCm38) |
D442G |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,573,714 (GRCm38) |
Y223C |
|
Het |
| Lrrc37 |
A |
G |
11: 103,616,739 (GRCm38) |
Y1468H |
unknown |
Het |
| Mast3 |
A |
T |
8: 70,796,717 (GRCm38) |
W53R |
unknown |
Het |
| Mettl2 |
T |
C |
11: 105,130,448 (GRCm38) |
V180A |
possibly damaging |
Het |
| Mospd3 |
C |
T |
5: 137,600,608 (GRCm38) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 12,915,695 (GRCm38) |
V61E |
probably damaging |
Het |
| Mrtfb |
A |
C |
16: 13,412,228 (GRCm38) |
T926P |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,700,489 (GRCm38) |
C154S |
probably damaging |
Het |
| Mypn |
T |
G |
10: 63,148,115 (GRCm38) |
|
probably null |
Het |
| Nelfb |
C |
T |
2: 25,204,280 (GRCm38) |
C357Y |
probably damaging |
Het |
| Nes |
T |
G |
3: 87,979,762 (GRCm38) |
V1776G |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,030,012 (GRCm38) |
R1797* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,339,572 (GRCm38) |
I25K |
probably benign |
Het |
| Or4a39 |
A |
G |
2: 89,406,297 (GRCm38) |
S261P |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,430,275 (GRCm38) |
T185S |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,929,036 (GRCm38) |
H60R |
probably damaging |
Het |
| Papss1 |
C |
A |
3: 131,619,056 (GRCm38) |
H425N |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,694,069 (GRCm38) |
N2344S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,178,121 (GRCm38) |
V704I |
probably benign |
Het |
| Pknox1 |
C |
T |
17: 31,603,255 (GRCm38) |
T332M |
possibly damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,425,447 (GRCm38) |
V1251D |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,000,519 (GRCm38) |
D321G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,075 (GRCm38) |
S4221P |
probably damaging |
Het |
| Psg23 |
T |
G |
7: 18,614,735 (GRCm38) |
N49T |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,221,950 (GRCm38) |
F97S |
probably damaging |
Het |
| Rab3ip |
G |
A |
10: 116,939,405 (GRCm38) |
S16L |
probably damaging |
Het |
| Rbm43 |
A |
G |
2: 51,934,918 (GRCm38) |
|
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,287,675 (GRCm38) |
N314D |
possibly damaging |
Het |
| Rpn2 |
C |
T |
2: 157,283,647 (GRCm38) |
T26I |
possibly damaging |
Het |
| Rsph6a |
A |
T |
7: 19,065,325 (GRCm38) |
N294Y |
probably damaging |
Het |
| Serpinb9h |
T |
C |
13: 33,397,798 (GRCm38) |
Y113H |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,810,839 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
T |
C |
3: 86,126,685 (GRCm38) |
Y782H |
probably damaging |
Het |
| Sh3rf1 |
C |
A |
8: 61,349,459 (GRCm38) |
D275E |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,411,625 (GRCm38) |
V374A |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,225,847 (GRCm38) |
I301F |
probably damaging |
Het |
| Spock1 |
A |
T |
13: 57,423,143 (GRCm38) |
F348I |
unknown |
Het |
| Sptlc2 |
T |
C |
12: 87,336,065 (GRCm38) |
K422E |
probably benign |
Het |
| Tas2r115 |
A |
T |
6: 132,737,364 (GRCm38) |
V208E |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,866,471 (GRCm38) |
Q174K |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,336,251 (GRCm38) |
Y338* |
probably null |
Het |
| Tnfaip1 |
G |
T |
11: 78,530,139 (GRCm38) |
L32I |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,225,561 (GRCm38) |
C67R |
probably benign |
Het |
| Ube2o |
C |
T |
11: 116,545,383 (GRCm38) |
G311S |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 116,068,172 (GRCm38) |
|
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,506,406 (GRCm38) |
A220V |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,306,593 (GRCm38) |
K132E |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,716 (GRCm38) |
L409S |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,464,398 (GRCm38) |
L425H |
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 |
|
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'- GAGCCTTAGATAGACCCAGTGAC -3'
(R):5'- AGCAGAATGACACACCCTTTG -3'
Sequencing Primer
(F):5'- GATAGACCCAGTGACTTGTTTTATC -3'
(R):5'- CCTTTGTGGGCTACGGGATC -3'
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| Posted On |
2021-12-30 |
Incidental Mutation