Incidental Mutation 'R6170:Emc1'
| ID |
490370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
044431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139366378 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 600
(T600A)
|
| 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: T597A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: T597A
| 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: T600A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: T600A
| 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: T600A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: T600A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (68/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,348,572 (GRCm38) |
S90R |
probably benign |
Het |
| 4930430A15Rik |
A |
G |
2: 111,227,948 (GRCm38) |
Y167H |
probably benign |
Het |
| 4930523C07Rik |
C |
A |
1: 160,075,173 (GRCm38) |
N4K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,823,009 (GRCm38) |
S1167P |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,602,724 (GRCm38) |
D94G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,368,497 (GRCm38) |
N466D |
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,877,347 (GRCm38) |
I231L |
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,919,637 (GRCm38) |
M2K |
unknown |
Het |
| Btbd3 |
T |
C |
2: 138,278,942 (GRCm38) |
L12P |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,515,506 (GRCm38) |
Y94F |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,818,455 (GRCm38) |
L19* |
probably null |
Het |
| Cacna2d2 |
A |
G |
9: 107,527,334 (GRCm38) |
D1114G |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 131,174,487 (GRCm38) |
|
probably null |
Het |
| Cdh11 |
A |
G |
8: 102,634,810 (GRCm38) |
V632A |
probably benign |
Het |
| Cemip |
T |
G |
7: 83,947,230 (GRCm38) |
T1109P |
possibly damaging |
Het |
| Col7a1 |
C |
A |
9: 108,966,443 (GRCm38) |
P1522Q |
unknown |
Het |
| Colgalt1 |
C |
T |
8: 71,621,870 (GRCm38) |
L409F |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,259,600 (GRCm38) |
M125V |
probably benign |
Het |
| Cyp2b19 |
T |
G |
7: 26,759,094 (GRCm38) |
M78R |
possibly damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,327,446 (GRCm38) |
D308A |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,545,267 (GRCm38) |
T242A |
probably benign |
Het |
| Ddah1 |
A |
G |
3: 145,891,506 (GRCm38) |
D166G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,617,355 (GRCm38) |
D60G |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,335,986 (GRCm38) |
D607V |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,883,885 (GRCm38) |
N236K |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,204,649 (GRCm38) |
N360S |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,503,603 (GRCm38) |
D72G |
possibly damaging |
Het |
| Fhad1 |
T |
A |
4: 141,890,952 (GRCm38) |
K1388* |
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,483,845 (GRCm38) |
M296V |
probably benign |
Het |
| Gdpd3 |
T |
C |
7: 126,771,164 (GRCm38) |
I257T |
probably benign |
Het |
| Glt28d2 |
T |
G |
3: 85,871,941 (GRCm38) |
D75A |
possibly damaging |
Het |
| Gm14295 |
G |
A |
2: 176,811,144 (GRCm38) |
|
probably benign |
Het |
| Gm28729 |
A |
G |
9: 96,519,441 (GRCm38) |
I98T |
probably damaging |
Het |
| Gm4924 |
C |
T |
10: 82,377,231 (GRCm38) |
Q288* |
probably null |
Het |
| Gpr150 |
T |
C |
13: 76,056,557 (GRCm38) |
M90V |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,887,372 (GRCm38) |
V331I |
probably benign |
Het |
| Lpcat2b |
A |
T |
5: 107,433,894 (GRCm38) |
Y363F |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,785,781 (GRCm38) |
I410V |
probably benign |
Het |
| Naxe |
T |
C |
3: 88,058,230 (GRCm38) |
E58G |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,924,464 (GRCm38) |
D603V |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,156,079 (GRCm38) |
Y1149F |
probably damaging |
Het |
| Nrg1 |
A |
G |
8: 31,818,480 (GRCm38) |
Y503H |
probably damaging |
Het |
| Nxpe4 |
C |
T |
9: 48,392,804 (GRCm38) |
P64S |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 109,623,179 (GRCm38) |
T219S |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,127,231 (GRCm38) |
L81P |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,399,742 (GRCm38) |
V481A |
possibly damaging |
Het |
| Polq |
A |
G |
16: 37,045,812 (GRCm38) |
Q457R |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,473,911 (GRCm38) |
A459S |
probably damaging |
Het |
| Ppp1r13l |
A |
G |
7: 19,370,437 (GRCm38) |
D253G |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,002,172 (GRCm38) |
N55Y |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,849 (GRCm38) |
F470S |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,038,241 (GRCm38) |
D44G |
probably benign |
Het |
| Sfxn1 |
T |
G |
13: 54,106,507 (GRCm38) |
S291R |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,341,672 (GRCm38) |
D224G |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,990,743 (GRCm38) |
F123S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,849,345 (GRCm38) |
V937A |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,192,020 (GRCm38) |
M802L |
probably benign |
Het |
| Tmem150a |
G |
A |
6: 72,356,745 (GRCm38) |
R30H |
probably benign |
Het |
| Tmem210 |
G |
A |
2: 25,288,764 (GRCm38) |
|
probably null |
Het |
| Tor3a |
T |
C |
1: 156,656,573 (GRCm38) |
N269S |
possibly damaging |
Het |
| Trp63 |
A |
C |
16: 25,884,853 (GRCm38) |
N423T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 42,135,621 (GRCm38) |
I86V |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,957,140 (GRCm38) |
I333V |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,021,210 (GRCm38) |
H385N |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,529,671 (GRCm38) |
|
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,463,424 (GRCm38) |
Y57H |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 31,053,382 (GRCm38) |
H29Q |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,624,438 (GRCm38) |
S481T |
probably damaging |
Het |
| Zfp955b |
G |
T |
17: 33,302,110 (GRCm38) |
R184S |
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 |
|
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'- GCTAGACTTGGAGCTGGAAG -3'
(R):5'- ACAACAAACGGGCTGTCTG -3'
Sequencing Primer
(F):5'- GAAGCAGTCCCATCAGCCTAGG -3'
(R):5'- CAACAAACGGGCTGTCTGGTATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation