Incidental Mutation 'IGL02501:Emc1'
ID |
296044 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL02501
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139098295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 759
(T759S)
|
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: T756S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049034 Gene: ENSMUSG00000078517 AA Change: T756S
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: T759S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080888 Gene: ENSMUSG00000078517 AA Change: T759S
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: T759S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137103 Gene: ENSMUSG00000078517 AA Change: T759S
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,137,489 (GRCm39) |
I307F |
probably damaging |
Het |
Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,542,712 (GRCm39) |
S371P |
probably damaging |
Het |
Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,234,534 (GRCm39) |
V3E |
probably damaging |
Het |
Utp4 |
T |
A |
8: 107,632,873 (GRCm39) |
H285Q |
probably benign |
Het |
Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
Zfp329 |
G |
T |
7: 12,545,106 (GRCm39) |
H139Q |
possibly 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 |
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 |
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 |
|
Posted On |
2015-04-16 |