Incidental Mutation 'R5322:Emc1'
| ID |
404892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139354246 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 62
(N62Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030513]
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000102503]
[ENSMUST00000147999]
[ENSMUST00000155257]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030513
|
| SMART Domains |
Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
18 |
121 |
7.9e-23 |
PFAM |
|
low complexity region
|
222 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042096
AA Change: N62Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: N62Y
| 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: N62Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: N62Y
| 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: ENSMUST00000102503
|
| SMART Domains |
Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
18 |
121 |
4.6e-24 |
PFAM |
|
low complexity region
|
223 |
239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144335
|
| 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: ENSMUST00000155257
|
| SMART Domains |
Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L10
|
1 |
61 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179784
AA Change: N62Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: N62Y
| 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: 97.5%
- 20x: 95.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190002N15Rik |
A |
G |
9: 94,520,562 (GRCm38) |
I349T |
probably benign |
Het |
| Adamts3 |
C |
T |
5: 89,707,300 (GRCm38) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,690,386 (GRCm38) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,568,817 (GRCm38) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,196,064 (GRCm38) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,397,643 (GRCm38) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,952,122 (GRCm38) |
I268T |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,482,527 (GRCm38) |
S933P |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,873,040 (GRCm38) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 91,861,772 (GRCm38) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,135,078 (GRCm38) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,585,976 (GRCm38) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,829,898 (GRCm38) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,517,602 (GRCm38) |
T338S |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,773,566 (GRCm38) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,244 (GRCm38) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,901,829 (GRCm38) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,770,266 (GRCm38) |
I1498N |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,068,915 (GRCm38) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,885,748 (GRCm38) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,039,315 (GRCm38) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,639,008 (GRCm38) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,801,571 (GRCm38) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,217,481 (GRCm38) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,098,852 (GRCm38) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,348,629 (GRCm38) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,929,206 (GRCm38) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,936,809 (GRCm38) |
F1561L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,333,411 (GRCm38) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm38) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,244,253 (GRCm38) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,185,683 (GRCm38) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,354,149 (GRCm38) |
F351S |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,790,457 (GRCm38) |
N143K |
possibly damaging |
Het |
| Olfr1018 |
T |
A |
2: 85,823,187 (GRCm38) |
I72N |
probably damaging |
Het |
| Olfr147 |
A |
T |
9: 38,403,566 (GRCm38) |
I228F |
probably damaging |
Het |
| Olfr243 |
T |
A |
7: 103,717,112 (GRCm38) |
W173R |
probably benign |
Het |
| Olfr455 |
T |
C |
6: 42,539,016 (GRCm38) |
D2G |
probably benign |
Het |
| Olfr623 |
T |
C |
7: 103,660,672 (GRCm38) |
I193V |
possibly damaging |
Het |
| Olfr666 |
C |
T |
7: 104,893,164 (GRCm38) |
V155I |
probably benign |
Het |
| Olfr917 |
T |
A |
9: 38,665,206 (GRCm38) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,920,859 (GRCm38) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 91,015,162 (GRCm38) |
I887V |
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,994,249 (GRCm38) |
R436Q |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,488,686 (GRCm38) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,038,873 (GRCm38) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,645,380 (GRCm38) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,281,622 (GRCm38) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,871,287 (GRCm38) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,477,349 (GRCm38) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,511,472 (GRCm38) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,486,849 (GRCm38) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,844,224 (GRCm38) |
V2974A |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 112,053,269 (GRCm38) |
T31I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,551,421 (GRCm38) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,997,095 (GRCm38) |
M582R |
probably damaging |
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 |
|
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 |
|
R9611:Emc1
|
UTSW |
4 |
139,363,724 (GRCm38) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTTGCACAGAACTCTTGC -3'
(R):5'- AATTACAAAGGCAGTGCGAC -3'
Sequencing Primer
(F):5'- GCACAGAACTCTTGCGTATG -3'
(R):5'- GTGCGACAAATTTACCCAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation