Incidental Mutation 'R0051:Emc1'
| ID |
64279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139102474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 923
(M923K)
|
| 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: M920K
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: M920K
| 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 |
possibly damaging
Transcript: ENSMUST00000082262
AA Change: M923K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: M923K
| 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 |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: M923K
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: M923K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQQ_2
|
21 |
258 |
5.3e-9 |
PFAM |
|
Pfam:DUF1620
|
790 |
996 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181556
|
| Meta Mutation Damage Score |
0.4278 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Abr |
T |
A |
11: 76,363,328 (GRCm39) |
Q163L |
probably benign |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
| Zfp352 |
T |
C |
4: 90,112,522 (GRCm39) |
S221P |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
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 |
|
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 |
|
R6174:Emc1
|
UTSW |
4 |
139,093,842 (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'- ATTCGTAACAACCTGACTGAAGTAGGC -3'
(R):5'- CCTTCTTCTCCCAGACGTAAGTGAGAC -3'
Sequencing Primer
(F):5'- CCTCAGAGGAAATTCAGGTTTAGTG -3'
(R):5'- CTGATGAGCACATAGTCGTAGTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation