Incidental Mutation 'R6174:Emc1'
| ID |
488185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R6174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139366531 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 651
(Y651H)
|
| 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: Y648H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: Y648H
| 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 benign
Transcript: ENSMUST00000082262
AA Change: Y651H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: Y651H
| 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: Y651H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: Y651H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| 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 |
|---|
| 4930590J08Rik |
T |
A |
6: 91,942,536 |
D725E |
probably damaging |
Het |
| 9530053A07Rik |
A |
G |
7: 28,139,959 |
Y399C |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,113,534 |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,665,546 |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,794,704 |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,568,219 |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,464,836 |
L193Q |
probably damaging |
Het |
| D11Wsu47e |
C |
A |
11: 113,688,975 |
H399N |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,393,727 |
L2367F |
probably damaging |
Het |
| Dopey2 |
T |
G |
16: 93,766,222 |
D871E |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,508,187 |
S41P |
possibly damaging |
Het |
| Foxa1 |
A |
G |
12: 57,542,900 |
L178P |
probably damaging |
Het |
| Gm10639 |
T |
A |
9: 78,304,455 |
Y166* |
probably null |
Het |
| Grm7 |
T |
A |
6: 111,246,297 |
Y433N |
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,158,211 |
R813C |
probably damaging |
Het |
| Hacd3 |
T |
C |
9: 65,005,627 |
E117G |
probably damaging |
Het |
| Hist1h4i |
T |
A |
13: 22,041,077 |
T83S |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,646,784 |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,833,709 |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,088,773 |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,412,178 |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,449,263 |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,400,975 |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,013,849 |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,208,923 |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,022,099 |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,485,442 |
G50R |
possibly damaging |
Het |
| Olfr1162 |
A |
T |
2: 88,050,302 |
C107* |
probably null |
Het |
| Olfr310 |
A |
T |
7: 86,268,801 |
D329E |
probably benign |
Het |
| Olfr43 |
A |
T |
11: 74,206,640 |
I192N |
probably damaging |
Het |
| Olfr715b |
A |
T |
7: 107,106,507 |
M118K |
probably damaging |
Het |
| Osbpl10 |
A |
G |
9: 115,109,487 |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,668,155 |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,443,421 |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,229 |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,259,616 |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 80,304,796 |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,572,963 |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,785,754 |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,487,115 |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,456,412 |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 171,138,702 |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,839,313 |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,801,907 |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,589,928 |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,276,603 |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 122,086,805 |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,289,616 |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 31,162,519 |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,595,267 |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,461,536 |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,573,073 |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,816,277 |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,975,193 |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,191,868 |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,943,855 |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,891,387 |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 54,988,544 |
|
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 |
|
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 |
|
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'- CAGGGATTCCTCATGGCTTC -3'
(R):5'- TGAGCACCTTATGAAGCCAG -3'
Sequencing Primer
(F):5'- TCACCTGGAGGACGTGC -3'
(R):5'- CCAGGCGCTCACAAGGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation