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: 0.964)
|
| Stock # |
R6174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139093842 bp (GRCm39)
|
| 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: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,044,749 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,745,627 (GRCm39) |
S41P |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,242,895 (GRCm39) |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Osbpl10 |
A |
G |
9: 114,938,555 (GRCm39) |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
probably benign |
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 |
|
R5375:Emc1
|
UTSW |
4 |
139,093,802 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- CAGGGATTCCTCATGGCTTC -3'
(R):5'- TGAGCACCTTATGAAGCCAG -3'
Sequencing Primer
(F):5'- TCACCTGGAGGACGTGC -3'
(R):5'- CCAGGCGCTCACAAGGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation