Incidental Mutation 'R5375:Emc1'
| ID |
429002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
042951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5375 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139093802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 637
(D637E)
|
| 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: D634E
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: D634E
| 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: D637E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: D637E
| 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: D637E
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: D637E
| 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: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
T |
A |
12: 4,260,870 (GRCm39) |
N995K |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,361,233 (GRCm39) |
M60T |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,505,809 (GRCm39) |
H70Q |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,207 (GRCm39) |
I5N |
possibly damaging |
Het |
| Blm |
T |
C |
7: 80,162,977 (GRCm39) |
T125A |
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,759,826 (GRCm39) |
|
probably benign |
Het |
| Calcr |
G |
T |
6: 3,714,651 (GRCm39) |
Q160K |
probably benign |
Het |
| Ccdc43 |
C |
T |
11: 102,581,058 (GRCm39) |
A131T |
probably damaging |
Het |
| Cdh15 |
A |
T |
8: 123,591,839 (GRCm39) |
N575Y |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,611 (GRCm39) |
D827G |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,387,059 (GRCm39) |
|
probably null |
Het |
| Creb5 |
A |
T |
6: 53,658,002 (GRCm39) |
M255L |
possibly damaging |
Het |
| Cst8 |
A |
G |
2: 148,646,503 (GRCm39) |
I78V |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,459,664 (GRCm39) |
E440G |
possibly damaging |
Het |
| Cyp2b9 |
A |
C |
7: 25,887,167 (GRCm39) |
D192A |
probably damaging |
Het |
| Dclre1b |
C |
T |
3: 103,711,290 (GRCm39) |
R207H |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,100,838 (GRCm39) |
F1936L |
probably damaging |
Het |
| Dpp9 |
A |
C |
17: 56,496,424 (GRCm39) |
Y761* |
probably null |
Het |
| Drc1 |
A |
T |
5: 30,513,745 (GRCm39) |
M434L |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,397 (GRCm39) |
I403N |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,809,401 (GRCm39) |
K1658* |
probably null |
Het |
| Efcab9 |
A |
G |
11: 32,477,484 (GRCm39) |
Y13H |
probably damaging |
Het |
| Efhb |
T |
A |
17: 53,708,654 (GRCm39) |
N672I |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,084,835 (GRCm39) |
V894A |
possibly damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,135 (GRCm39) |
F237S |
probably benign |
Het |
| Erbb2 |
C |
A |
11: 98,324,238 (GRCm39) |
P742Q |
probably damaging |
Het |
| Fam234b |
C |
A |
6: 135,210,355 (GRCm39) |
L584M |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,545,673 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,153,646 (GRCm39) |
H3522R |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,842,945 (GRCm39) |
N147D |
possibly damaging |
Het |
| Gm26657 |
A |
G |
4: 56,741,180 (GRCm39) |
|
probably benign |
Het |
| Hcrtr1 |
C |
T |
4: 130,029,518 (GRCm39) |
V188M |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,375,169 (GRCm39) |
V3331A |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,320,453 (GRCm39) |
V3978A |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,385,262 (GRCm39) |
R202K |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,314,469 (GRCm39) |
S156N |
probably benign |
Het |
| Mras |
T |
G |
9: 99,276,669 (GRCm39) |
D67A |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,520,790 (GRCm39) |
L283P |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,275,915 (GRCm39) |
I110N |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,596 (GRCm39) |
D544G |
possibly damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,617 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or10a2 |
T |
A |
7: 106,673,080 (GRCm39) |
M15K |
probably benign |
Het |
| Or1j13 |
A |
G |
2: 36,369,309 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,248 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,442 (GRCm39) |
K273R |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf11d |
T |
C |
14: 59,590,120 (GRCm39) |
D234G |
probably null |
Het |
| Polq |
A |
T |
16: 36,903,146 (GRCm39) |
D1980V |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,437,022 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,791 (GRCm39) |
V69A |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,640 (GRCm39) |
I260T |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,020,017 (GRCm39) |
L628H |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,525,730 (GRCm39) |
V323A |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,611,723 (GRCm39) |
S565P |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,564 (GRCm39) |
D160N |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Trp53inp1 |
A |
G |
4: 11,165,305 (GRCm39) |
T110A |
probably benign |
Het |
| Ttll9 |
G |
T |
2: 152,826,144 (GRCm39) |
C118F |
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,719,422 (GRCm39) |
L42P |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,250 (GRCm39) |
N1497I |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,764 (GRCm39) |
V123A |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,477,485 (GRCm39) |
T3367S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,615,813 (GRCm39) |
E1782G |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,973 (GRCm39) |
C106S |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,062,812 (GRCm39) |
T624A |
probably benign |
Het |
| Zmiz2 |
C |
T |
11: 6,347,519 (GRCm39) |
Q276* |
probably null |
Het |
|
| Other mutations in Emc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Emc1
|
APN |
4 |
139,082,393 (GRCm39) |
splice site |
probably benign |
|
|
IGL00898:Emc1
|
APN |
4 |
139,098,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01481:Emc1
|
APN |
4 |
139,089,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Emc1
|
APN |
4 |
139,098,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02264:Emc1
|
APN |
4 |
139,102,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Emc1
|
APN |
4 |
139,098,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02697:Emc1
|
APN |
4 |
139,079,955 (GRCm39) |
missense |
probably benign |
|
|
IGL03355:Emc1
|
APN |
4 |
139,098,904 (GRCm39) |
splice site |
probably benign |
|
|
IGL03386:Emc1
|
APN |
4 |
139,091,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Emc1
|
UTSW |
4 |
139,086,588 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0023:Emc1
|
UTSW |
4 |
139,098,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Emc1
|
UTSW |
4 |
139,098,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Emc1
|
UTSW |
4 |
139,102,474 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0094:Emc1
|
UTSW |
4 |
139,087,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0613:Emc1
|
UTSW |
4 |
139,102,383 (GRCm39) |
splice site |
probably benign |
|
|
R1464:Emc1
|
UTSW |
4 |
139,098,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Emc1
|
UTSW |
4 |
139,098,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1512:Emc1
|
UTSW |
4 |
139,087,495 (GRCm39) |
splice site |
probably null |
|
|
R1702:Emc1
|
UTSW |
4 |
139,102,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Emc1
|
UTSW |
4 |
139,087,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1843:Emc1
|
UTSW |
4 |
139,102,823 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1850:Emc1
|
UTSW |
4 |
139,086,684 (GRCm39) |
splice site |
probably benign |
|
|
R2024:Emc1
|
UTSW |
4 |
139,088,257 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2196:Emc1
|
UTSW |
4 |
139,093,841 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2912:Emc1
|
UTSW |
4 |
139,092,571 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3696:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3697:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3698:Emc1
|
UTSW |
4 |
139,092,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3803:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3923:Emc1
|
UTSW |
4 |
139,090,496 (GRCm39) |
nonsense |
probably null |
|
|
R4738:Emc1
|
UTSW |
4 |
139,089,513 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4914:Emc1
|
UTSW |
4 |
139,102,476 (GRCm39) |
nonsense |
probably null |
|
|
R5033:Emc1
|
UTSW |
4 |
139,099,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Emc1
|
UTSW |
4 |
139,081,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Emc1
|
UTSW |
4 |
139,102,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Emc1
|
UTSW |
4 |
139,089,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5687:Emc1
|
UTSW |
4 |
139,102,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Emc1
|
UTSW |
4 |
139,084,931 (GRCm39) |
missense |
probably benign |
|
|
R6056:Emc1
|
UTSW |
4 |
139,081,533 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6170:Emc1
|
UTSW |
4 |
139,093,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6174:Emc1
|
UTSW |
4 |
139,093,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6208:Emc1
|
UTSW |
4 |
139,081,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6340:Emc1
|
UTSW |
4 |
139,092,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Emc1
|
UTSW |
4 |
139,098,976 (GRCm39) |
nonsense |
probably null |
|
|
R6889:Emc1
|
UTSW |
4 |
139,092,661 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7592:Emc1
|
UTSW |
4 |
139,087,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7699:Emc1
|
UTSW |
4 |
139,082,181 (GRCm39) |
missense |
probably benign |
|
|
R7715:Emc1
|
UTSW |
4 |
139,098,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Emc1
|
UTSW |
4 |
139,102,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Emc1
|
UTSW |
4 |
139,094,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8325:Emc1
|
UTSW |
4 |
139,092,521 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8387:Emc1
|
UTSW |
4 |
139,088,600 (GRCm39) |
missense |
probably benign |
|
|
R8751:Emc1
|
UTSW |
4 |
139,097,279 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9032:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9085:Emc1
|
UTSW |
4 |
139,094,474 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9474:Emc1
|
UTSW |
4 |
139,093,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9482:Emc1
|
UTSW |
4 |
139,088,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9610:Emc1
|
UTSW |
4 |
139,091,035 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9611:Emc1
|
UTSW |
4 |
139,091,035 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTTCATGAAGATGACAGAAAGC -3'
(R):5'- CTGGTGGCCTGACAACAAAC -3'
Sequencing Primer
(F):5'- AAGCAGGGATTCCTCATGGCTTC -3'
(R):5'- CTGACAACAAACGGGCTGTCTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation