Incidental Mutation 'R3923:Emc1'
| ID |
307027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
040820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 139363185 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 412
(L412*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042096
AA Change: L412*
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: L412*
| 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 null
Transcript: ENSMUST00000082262
AA Change: L412*
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: L412*
| 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 null
Transcript: ENSMUST00000155700
AA Change: L239*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179784
AA Change: L412*
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: L412*
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,130,514 (GRCm38) |
M528V |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,770,959 (GRCm38) |
Y318F |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,451,227 (GRCm38) |
D132E |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,797,108 (GRCm38) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,728,413 (GRCm38) |
E447G |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 45,942,389 (GRCm38) |
I439T |
probably damaging |
Het |
| Ccdc50 |
A |
T |
16: 27,444,544 (GRCm38) |
R264S |
probably damaging |
Het |
| Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
| Chd9 |
T |
A |
8: 90,933,519 (GRCm38) |
V369E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,440,445 (GRCm38) |
M1V |
probably null |
Het |
| Col4a1 |
T |
A |
8: 11,201,665 (GRCm38) |
|
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,333,947 (GRCm38) |
V118A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,416,744 (GRCm38) |
V51D |
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,730,687 (GRCm38) |
T137S |
probably damaging |
Het |
| Dtd2 |
G |
C |
12: 52,004,951 (GRCm38) |
|
probably null |
Het |
| Ehmt1 |
A |
T |
2: 24,884,335 (GRCm38) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,756,523 (GRCm38) |
N70S |
possibly damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,870,735 (GRCm38) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,413,349 (GRCm38) |
V1395A |
probably benign |
Het |
| Gps1 |
A |
G |
11: 120,786,433 (GRCm38) |
N186S |
possibly damaging |
Het |
| Hdgf |
T |
A |
3: 87,914,228 (GRCm38) |
D128E |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,470,762 (GRCm38) |
S362P |
probably damaging |
Het |
| Hypk |
C |
A |
2: 121,458,202 (GRCm38) |
H116Q |
possibly damaging |
Het |
| Ifna9 |
T |
A |
4: 88,592,271 (GRCm38) |
T39S |
possibly damaging |
Het |
| Itgae |
A |
C |
11: 73,116,143 (GRCm38) |
D405A |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,968,060 (GRCm38) |
S589P |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,381,664 (GRCm38) |
S223P |
probably benign |
Het |
| Kif21a |
C |
T |
15: 90,937,294 (GRCm38) |
S1432N |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,346,880 (GRCm38) |
C305S |
possibly damaging |
Het |
| Lrrn2 |
A |
G |
1: 132,938,492 (GRCm38) |
S432G |
probably benign |
Het |
| Mlana |
T |
A |
19: 29,704,698 (GRCm38) |
S50R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,126,713 (GRCm38) |
H4383Q |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,325,616 (GRCm38) |
S1469P |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,121,531 (GRCm38) |
F270L |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,160,401 (GRCm38) |
M431K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,380,256 (GRCm38) |
I243V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,060,928 (GRCm38) |
I4297V |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,341,520 (GRCm38) |
K381E |
probably damaging |
Het |
| Or52n1 |
T |
A |
7: 104,734,189 (GRCm38) |
E58D |
probably benign |
Het |
| Or8k23 |
T |
C |
2: 86,355,861 (GRCm38) |
I174V |
probably benign |
Het |
| Palb2 |
A |
T |
7: 122,117,360 (GRCm38) |
|
probably null |
Het |
| Plod1 |
T |
C |
4: 147,915,823 (GRCm38) |
K260E |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,804,130 (GRCm38) |
|
probably null |
Het |
| Rpe65 |
T |
A |
3: 159,604,400 (GRCm38) |
F103L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,841,873 (GRCm38) |
A1438T |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 23,858,054 (GRCm38) |
V402M |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,022,957 (GRCm38) |
F113Y |
probably damaging |
Het |
| Snph |
C |
T |
2: 151,593,511 (GRCm38) |
C430Y |
probably damaging |
Het |
| Tarbp1 |
T |
C |
8: 126,440,771 (GRCm38) |
I1101V |
probably benign |
Het |
| Tatdn1 |
G |
A |
15: 58,921,171 (GRCm38) |
L120F |
possibly damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,666,371 (GRCm38) |
K49E |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,653,249 (GRCm38) |
T636A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,809,074 (GRCm38) |
D127G |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,374,791 (GRCm38) |
|
probably null |
Het |
| Usp53 |
A |
T |
3: 122,934,305 (GRCm38) |
F876Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,739,479 (GRCm38) |
I316K |
probably benign |
Het |
| Zfp106 |
G |
T |
2: 120,534,856 (GRCm38) |
Q357K |
probably damaging |
Het |
| Zfp143 |
T |
C |
7: 110,074,191 (GRCm38) |
V138A |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,779,045 (GRCm38) |
R118G |
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 |
|
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'- CCTCATTGCTGGCTTTAAAGAG -3'
(R):5'- GCTTGAATCTTTCCCAAGCC -3'
Sequencing Primer
(F):5'- AAAGAGTTTGTGCTTTCTTGCCAATG -3'
(R):5'- GAATCTTTCCCAAGCCTATGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation