Incidental Mutation 'R5687:Emc1'
ID |
443417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
MMRRC Submission |
043320-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 139102691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 950
(R950L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
AlphaFold |
Q8C7X2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042096
AA Change: R947L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049034 Gene: ENSMUSG00000078517 AA Change: R947L
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: R950L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080888 Gene: ENSMUSG00000078517 AA Change: R950L
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: R950L
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137103 Gene: ENSMUSG00000078517 AA Change: R950L
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 |
0.7183 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,223,852 (GRCm39) |
D1292V |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,768,938 (GRCm39) |
C1063* |
probably null |
Het |
Adcy2 |
A |
T |
13: 68,790,688 (GRCm39) |
V892D |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,648,329 (GRCm39) |
D497G |
probably benign |
Het |
Anks1b |
A |
C |
10: 90,750,573 (GRCm39) |
I195L |
probably benign |
Het |
Asmt |
G |
T |
X: 169,111,749 (GRCm39) |
S377I |
unknown |
Het |
C1s1 |
T |
A |
6: 124,517,909 (GRCm39) |
T24S |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,342,854 (GRCm39) |
|
probably benign |
Het |
Ccndbp1 |
T |
C |
2: 120,845,183 (GRCm39) |
|
probably benign |
Het |
Cct8 |
T |
C |
16: 87,285,709 (GRCm39) |
I250V |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,234,684 (GRCm39) |
T135A |
possibly damaging |
Het |
Col11a1 |
T |
C |
3: 114,010,752 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,379,529 (GRCm39) |
M575T |
probably benign |
Het |
Dmp1 |
C |
T |
5: 104,354,952 (GRCm39) |
|
probably benign |
Het |
Enpep |
T |
C |
3: 129,092,743 (GRCm39) |
|
probably null |
Het |
Eya1 |
G |
A |
1: 14,253,476 (GRCm39) |
T500I |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,230,126 (GRCm39) |
F54L |
probably damaging |
Het |
Fbxo8 |
A |
G |
8: 57,044,552 (GRCm39) |
K285R |
probably damaging |
Het |
Galnt1 |
A |
T |
18: 24,405,807 (GRCm39) |
E416D |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,419,232 (GRCm39) |
|
probably null |
Het |
Gm10800 |
T |
A |
2: 98,496,965 (GRCm39) |
Y196F |
probably benign |
Het |
Gmpr |
T |
A |
13: 45,692,496 (GRCm39) |
|
probably null |
Het |
Jrkl |
C |
T |
9: 13,244,387 (GRCm39) |
E425K |
probably benign |
Het |
Kl |
T |
G |
5: 150,911,931 (GRCm39) |
I560S |
possibly damaging |
Het |
Kyat3 |
C |
A |
3: 142,440,343 (GRCm39) |
R356S |
probably null |
Het |
Lrig2 |
C |
T |
3: 104,371,388 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
G |
4: 154,100,140 (GRCm39) |
T239A |
probably benign |
Het |
Map4k2 |
T |
C |
19: 6,395,672 (GRCm39) |
|
probably benign |
Het |
Mon2 |
A |
G |
10: 122,844,144 (GRCm39) |
S1469P |
probably damaging |
Het |
Mthfd1l |
G |
A |
10: 3,940,002 (GRCm39) |
|
probably null |
Het |
Mvk |
G |
T |
5: 114,588,826 (GRCm39) |
G144V |
probably damaging |
Het |
Nasp |
T |
A |
4: 116,463,002 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
C |
3: 125,232,258 (GRCm39) |
N276H |
possibly damaging |
Het |
Nsmf |
C |
T |
2: 24,946,079 (GRCm39) |
P189S |
probably damaging |
Het |
Nt5m |
T |
G |
11: 59,743,649 (GRCm39) |
D92E |
probably benign |
Het |
Or10g6 |
T |
G |
9: 39,933,731 (GRCm39) |
L14R |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,033 (GRCm39) |
|
noncoding transcript |
Het |
Or4p23 |
A |
T |
2: 88,577,094 (GRCm39) |
I46N |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,391,982 (GRCm39) |
I119N |
probably damaging |
Het |
Pard6b |
A |
T |
2: 167,940,546 (GRCm39) |
S178C |
probably damaging |
Het |
Parl |
A |
G |
16: 20,106,728 (GRCm39) |
|
probably benign |
Het |
Pdk2 |
A |
G |
11: 94,919,851 (GRCm39) |
|
probably benign |
Het |
Prag1 |
A |
G |
8: 36,613,967 (GRCm39) |
E1173G |
probably benign |
Het |
Prph2 |
T |
A |
17: 47,234,391 (GRCm39) |
L320Q |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,584,495 (GRCm39) |
I200T |
probably damaging |
Het |
Rhbdd3 |
T |
A |
11: 5,055,707 (GRCm39) |
S324T |
probably damaging |
Het |
Rps6-ps2 |
A |
T |
8: 89,533,112 (GRCm39) |
|
noncoding transcript |
Het |
Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,022 (GRCm39) |
N61S |
probably benign |
Het |
Sfrp2 |
G |
A |
3: 83,674,146 (GRCm39) |
A100T |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,279,700 (GRCm39) |
T25A |
probably benign |
Het |
Sntg1 |
C |
A |
1: 8,533,667 (GRCm39) |
R329L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,228,669 (GRCm39) |
F285L |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,773 (GRCm39) |
|
probably null |
Het |
Srgap1 |
T |
C |
10: 121,661,541 (GRCm39) |
Y533C |
probably damaging |
Het |
Supt5 |
C |
A |
7: 28,017,188 (GRCm39) |
S668I |
probably benign |
Het |
Taf6l |
T |
G |
19: 8,750,676 (GRCm39) |
I133L |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,074,279 (GRCm39) |
|
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,412,054 (GRCm39) |
N126S |
probably benign |
Het |
Trgc1 |
A |
T |
13: 19,400,729 (GRCm39) |
I153F |
unknown |
Het |
Tspoap1 |
T |
A |
11: 87,667,952 (GRCm39) |
I1192N |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,826,253 (GRCm39) |
I3184V |
probably damaging |
Het |
Yeats4 |
G |
A |
10: 117,051,585 (GRCm39) |
T224M |
probably benign |
Het |
Zc3h13 |
A |
T |
14: 75,569,400 (GRCm39) |
R1416* |
probably null |
Het |
Zmynd12 |
T |
A |
4: 119,299,098 (GRCm39) |
Y193N |
probably damaging |
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 |
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'- CCTGGAGTCCACTTGTTTGG -3'
(R):5'- TCAGGGATCCAACAGTCCAC -3'
Sequencing Primer
(F):5'- TTTGGTGAGTGGCCCCAC -3'
(R):5'- AGTCCACGGCCATCTCCTTAG -3'
|
Posted On |
2016-11-09 |