Incidental Mutation 'R9611:Emc1'
| ID |
724208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R9611 (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 A
at 139363724 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 460
(D460E)
|
| 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: D460E
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: D460E
| 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: D460E
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: D460E
| 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 damaging
Transcript: ENSMUST00000155700
AA Change: D287E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179784
AA Change: D460E
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: D460E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110051M20Rik |
T |
C |
2: 91,304,782 |
D111G |
probably damaging |
Het |
| Adamts19 |
A |
T |
18: 58,890,327 |
T265S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 9,011,798 |
L3482Q |
probably damaging |
Het |
| Apopt1 |
T |
G |
12: 111,733,674 |
Y163D |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,280,956 |
I1311M |
probably damaging |
Het |
| Bcr |
T |
A |
10: 75,154,913 |
Y750* |
probably null |
Het |
| Bcr |
T |
A |
10: 75,154,911 |
Y750N |
probably damaging |
Het |
| Btbd16 |
T |
A |
7: 130,805,865 |
M295K |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,477,316 |
L1007P |
possibly damaging |
Het |
| Cnep1r1 |
A |
G |
8: 88,133,829 |
*126W |
probably null |
Het |
| Cntnap5b |
C |
A |
1: 99,967,210 |
P69Q |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,700,297 |
M1207V |
unknown |
Het |
| Colgalt2 |
T |
A |
1: 152,484,994 |
W261R |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,373,064 |
I35N |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,519,897 |
L1690P |
possibly damaging |
Het |
| Dscaml1 |
C |
A |
9: 45,668,224 |
N356K |
possibly damaging |
Het |
| Ecm2 |
A |
G |
13: 49,515,042 |
N74D |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,527,740 |
I450M |
probably damaging |
Het |
| Fam160b2 |
T |
C |
14: 70,586,818 |
Y493C |
probably benign |
Het |
| Fmo5 |
C |
T |
3: 97,641,773 |
R246C |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,828,520 |
T864A |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,975,298 |
Y336H |
probably damaging |
Het |
| Gcsh |
T |
A |
8: 116,993,386 |
Y14F |
probably benign |
Het |
| Grip1 |
G |
A |
10: 120,038,664 |
E778K |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,206,173 |
I937M |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,569,674 |
I370M |
possibly damaging |
Het |
| Hypk |
T |
C |
2: 121,457,673 |
S72P |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,788,586 |
Y46C |
probably damaging |
Het |
| Kctd13 |
G |
T |
7: 126,945,008 |
G293C |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,845,176 |
|
probably benign |
Het |
| Kmt2d |
CTGCTGTTGCTG |
CTGCTG |
15: 98,845,173 |
|
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,121,492 |
S2G |
probably benign |
Het |
| Mark4 |
C |
A |
7: 19,433,413 |
R467L |
possibly damaging |
Het |
| Mrps33 |
T |
A |
6: 39,802,488 |
K91M |
probably damaging |
Het |
| Olfr209 |
A |
C |
16: 59,361,879 |
I113S |
probably benign |
Het |
| Olfr566 |
T |
G |
7: 102,856,940 |
H114P |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 |
|
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,628,947 |
V639M |
probably damaging |
Het |
| Pigyl |
A |
T |
9: 22,158,203 |
H70L |
probably damaging |
Het |
| Pip4k2c |
A |
C |
10: 127,200,200 |
L266R |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,390,326 |
Y173H |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,133,239 |
V25F |
probably benign |
Het |
| Pot1b |
T |
A |
17: 55,699,995 |
T41S |
probably benign |
Het |
| Ppp1r16b |
T |
A |
2: 158,696,078 |
Y40N |
probably damaging |
Het |
| Prl5a1 |
A |
G |
13: 28,145,509 |
E57G |
possibly damaging |
Het |
| Prpf3 |
G |
A |
3: 95,851,619 |
R74* |
probably null |
Het |
| Psmb10 |
A |
G |
8: 105,937,512 |
F75S |
probably benign |
Het |
| Ptprm |
C |
A |
17: 66,693,488 |
R1167M |
probably damaging |
Het |
| Rmnd5b |
T |
C |
11: 51,627,042 |
I162V |
probably damaging |
Het |
| Sik1 |
T |
A |
17: 31,854,272 |
K70M |
probably damaging |
Het |
| Slc44a4 |
C |
T |
17: 34,928,817 |
S611F |
probably benign |
Het |
| St18 |
T |
C |
1: 6,802,923 |
V294A |
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,297,555 |
I177V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,033,686 |
F58S |
probably benign |
Het |
| Tcf7l2 |
A |
G |
19: 55,910,606 |
D215G |
probably null |
Het |
| Tcirg1 |
A |
T |
19: 3,903,400 |
F149Y |
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,486,258 |
F143I |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,283,577 |
V26A |
possibly damaging |
Het |
| Tnfaip8 |
ACACACTCTC |
AC |
18: 50,046,841 |
|
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,873,204 |
V115D |
probably benign |
Het |
| Tubb2b |
C |
A |
13: 34,127,759 |
K350N |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,642,409 |
G1389V |
possibly damaging |
Het |
| Vps39 |
T |
C |
2: 120,342,004 |
R183G |
probably damaging |
Het |
| Wdr47 |
A |
T |
3: 108,611,413 |
E72D |
probably damaging |
Het |
| Wnk4 |
G |
T |
11: 101,268,424 |
E556* |
probably null |
Het |
| Xpo7 |
T |
A |
14: 70,688,177 |
E474V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,179,806 |
V713A |
possibly damaging |
Het |
| Zfp189 |
G |
T |
4: 49,530,058 |
C387F |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,650,598 |
V502A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTGAACTCTGAGCCACCTC -3'
(R):5'- TCAGCAAAAGTGTGGCTGC -3'
Sequencing Primer
(F):5'- GAACTCTGAGCCACCTCTAGCTG -3'
(R):5'- GCTGCTGATGCACTGGAAACTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation