Incidental Mutation 'R3803:Emc1'
| ID |
274406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
040878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R3803 (G1)
|
| Quality Score |
225 |
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833423E24Rik |
A |
T |
2: 85,508,338 (GRCm38) |
|
probably null |
Het |
| A2ml1 |
T |
C |
6: 128,545,070 (GRCm38) |
N1263S |
probably benign |
Het |
| Alpk1 |
A |
C |
3: 127,679,837 (GRCm38) |
V839G |
possibly damaging |
Het |
| Als2 |
A |
C |
1: 59,167,199 (GRCm38) |
M1634R |
probably damaging |
Het |
| Aox2 |
T |
A |
1: 58,289,899 (GRCm38) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 93,006,366 (GRCm38) |
|
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 102,892,442 (GRCm38) |
V508A |
probably damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,329,517 (GRCm38) |
D598E |
possibly damaging |
Het |
| Btaf1 |
A |
T |
19: 36,986,548 (GRCm38) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,988,973 (GRCm38) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,339,401 (GRCm38) |
P339L |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,635,339 (GRCm38) |
H437R |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,938,069 (GRCm38) |
E79G |
unknown |
Het |
| Cspp1 |
C |
A |
1: 10,126,373 (GRCm38) |
D157E |
probably damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,544,884 (GRCm38) |
S217P |
possibly damaging |
Het |
| Ddx50 |
C |
A |
10: 62,639,944 (GRCm38) |
V333F |
probably damaging |
Het |
| Dnaic2 |
A |
G |
11: 114,738,725 (GRCm38) |
S193G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 6,935,293 (GRCm38) |
H4236Q |
probably benign |
Het |
| Erich6 |
T |
A |
3: 58,621,332 (GRCm38) |
Y499F |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 111,355,398 (GRCm38) |
|
probably null |
Het |
| Gli1 |
T |
A |
10: 127,338,065 (GRCm38) |
|
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,508,776 (GRCm38) |
S172G |
probably benign |
Het |
| Grhl1 |
C |
T |
12: 24,584,919 (GRCm38) |
T330M |
probably damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,636 (GRCm38) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,964,235 (GRCm38) |
T210I |
probably benign |
Het |
| H2-Ke6 |
A |
T |
17: 34,026,467 (GRCm38) |
V231E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 181,239,996 (GRCm38) |
F335L |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,557,893 (GRCm38) |
A322T |
probably benign |
Het |
| Iapp |
A |
G |
6: 142,303,425 (GRCm38) |
N68S |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 75,963,286 (GRCm38) |
L232F |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,615,941 (GRCm38) |
I783V |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,158,554 (GRCm38) |
N414K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,473,394 (GRCm38) |
E337G |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 110,008,197 (GRCm38) |
K498E |
probably benign |
Het |
| Lipo1 |
C |
T |
19: 33,784,857 (GRCm38) |
C80Y |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,293,166 (GRCm38) |
|
probably benign |
Het |
| Ndrg2 |
C |
A |
14: 51,910,675 (GRCm38) |
|
probably null |
Het |
| Ndufaf3 |
C |
A |
9: 108,566,893 (GRCm38) |
R12L |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,694,955 (GRCm38) |
L634I |
probably damaging |
Het |
| Npr3 |
C |
T |
15: 11,895,790 (GRCm38) |
A257T |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 38,376,434 (GRCm38) |
P496S |
probably damaging |
Het |
| Olfr1284 |
A |
T |
2: 111,379,293 (GRCm38) |
M98L |
possibly damaging |
Het |
| Olfr576 |
T |
C |
7: 102,966,021 (GRCm38) |
|
probably null |
Het |
| Pak3 |
G |
A |
X: 143,709,731 (GRCm38) |
V87I |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,515,402 (GRCm38) |
Q61* |
probably null |
Het |
| Phf19 |
A |
G |
2: 34,899,658 (GRCm38) |
L350P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 151,572,576 (GRCm38) |
S512P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,493,135 (GRCm38) |
L332P |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 34,883,682 (GRCm38) |
|
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,976,025 (GRCm38) |
I500T |
probably damaging |
Het |
| Rgs7 |
T |
A |
1: 175,189,219 (GRCm38) |
I62F |
probably benign |
Het |
| Rttn |
A |
G |
18: 88,977,707 (GRCm38) |
N205D |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,775,065 (GRCm38) |
V30M |
probably damaging |
Het |
| Scn7a |
G |
A |
2: 66,680,246 (GRCm38) |
Q1271* |
probably null |
Het |
| Skor1 |
A |
G |
9: 63,145,586 (GRCm38) |
V339A |
probably benign |
Het |
| Slc16a10 |
G |
C |
10: 40,056,624 (GRCm38) |
H314D |
possibly damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,042,951 (GRCm38) |
E130G |
probably damaging |
Het |
| Sorcs2 |
T |
A |
5: 36,397,806 (GRCm38) |
K80N |
probably benign |
Het |
| Stc1 |
T |
C |
14: 69,038,475 (GRCm38) |
I239T |
probably benign |
Het |
| Steap4 |
G |
T |
5: 7,976,979 (GRCm38) |
R314L |
probably damaging |
Het |
| Suclg2 |
A |
T |
6: 95,497,668 (GRCm38) |
I372N |
probably damaging |
Het |
| Trav7d-4 |
A |
T |
14: 52,770,118 (GRCm38) |
K23* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,810,731 (GRCm38) |
L13598P |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 10,173,512 (GRCm38) |
S96P |
probably damaging |
Het |
| Wdr25 |
T |
C |
12: 108,898,553 (GRCm38) |
V208A |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 14,918,109 (GRCm38) |
V360M |
probably benign |
Het |
| Zfp54 |
T |
C |
17: 21,433,552 (GRCm38) |
C103R |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,133,019 (GRCm38) |
E679G |
probably damaging |
Het |
| Zfp846 |
A |
G |
9: 20,594,439 (GRCm38) |
I532V |
probably benign |
Het |
| Zkscan2 |
A |
T |
7: 123,495,142 (GRCm38) |
|
probably benign |
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 |
|
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 |
|
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'- GCAGAATGACACACCCTTTG -3'
Sequencing Primer
(F):5'- GATAGACCCAGTGACTTGTTTTATC -3'
(R):5'- CCTTTGTGGGCTACGGGATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation