Incidental Mutation 'R9611:Emc1'
ID |
724208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emc1
|
Ensembl Gene |
ENSMUSG00000078517 |
Gene Name |
ER membrane protein complex subunit 1 |
Synonyms |
C230096C10Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R9611 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
139079898-139106041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139091035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 460
(D460E)
|
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: D460E
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049034 Gene: ENSMUSG00000078517 AA Change: D460E
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: D460E
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080888 Gene: ENSMUSG00000078517 AA Change: D460E
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 damaging
Transcript: ENSMUST00000155700
AA Change: D287E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179784
AA Change: D460E
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137103 Gene: ENSMUSG00000078517 AA Change: D460E
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
T |
18: 59,023,399 (GRCm39) |
T265S |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,989,162 (GRCm39) |
L3482Q |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,257,890 (GRCm39) |
I1311M |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,743 (GRCm39) |
Y750N |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,745 (GRCm39) |
Y750* |
probably null |
Het |
Btbd16 |
T |
A |
7: 130,407,595 (GRCm39) |
M295K |
probably benign |
Het |
Ccdc88a |
T |
C |
11: 29,427,316 (GRCm39) |
L1007P |
possibly damaging |
Het |
Cnep1r1 |
A |
G |
8: 88,860,457 (GRCm39) |
*126W |
probably null |
Het |
Cntnap5b |
C |
A |
1: 99,894,935 (GRCm39) |
P69Q |
probably damaging |
Het |
Coa8 |
T |
G |
12: 111,700,108 (GRCm39) |
Y163D |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,678,018 (GRCm39) |
M1207V |
unknown |
Het |
Colgalt2 |
T |
A |
1: 152,360,745 (GRCm39) |
W261R |
probably damaging |
Het |
Cstf1 |
T |
A |
2: 172,214,984 (GRCm39) |
I35N |
probably benign |
Het |
Cstpp1 |
T |
C |
2: 91,135,127 (GRCm39) |
D111G |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,830,823 (GRCm39) |
L1690P |
possibly damaging |
Het |
Dscaml1 |
C |
A |
9: 45,579,522 (GRCm39) |
N356K |
possibly damaging |
Het |
Ecm2 |
A |
G |
13: 49,668,518 (GRCm39) |
N74D |
probably benign |
Het |
Ecm2 |
A |
G |
13: 49,681,216 (GRCm39) |
I450M |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,824,258 (GRCm39) |
Y493C |
probably benign |
Het |
Fmo5 |
C |
T |
3: 97,549,089 (GRCm39) |
R246C |
possibly damaging |
Het |
Fyco1 |
T |
C |
9: 123,657,585 (GRCm39) |
T864A |
possibly damaging |
Het |
Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
Gcsh |
T |
A |
8: 117,720,125 (GRCm39) |
Y14F |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Gucy2g |
T |
C |
19: 55,194,605 (GRCm39) |
I937M |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,880,600 (GRCm39) |
I370M |
possibly damaging |
Het |
Hypk |
T |
C |
2: 121,288,154 (GRCm39) |
S72P |
probably damaging |
Het |
Ighv1-26 |
T |
C |
12: 114,752,206 (GRCm39) |
Y46C |
probably damaging |
Het |
Kctd13 |
G |
T |
7: 126,544,180 (GRCm39) |
G293C |
probably damaging |
Het |
Kmt2d |
CTGCTGTTGCTG |
CTGCTG |
15: 98,743,054 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
Krt13 |
T |
C |
11: 100,012,318 (GRCm39) |
S2G |
probably benign |
Het |
Mark4 |
C |
A |
7: 19,167,338 (GRCm39) |
R467L |
possibly damaging |
Het |
Mrps33 |
T |
A |
6: 39,779,422 (GRCm39) |
K91M |
probably damaging |
Het |
Or51f1 |
T |
G |
7: 102,506,147 (GRCm39) |
H114P |
probably damaging |
Het |
Or5ac25 |
A |
C |
16: 59,182,242 (GRCm39) |
I113S |
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
Pigyl |
A |
T |
9: 22,069,499 (GRCm39) |
H70L |
probably damaging |
Het |
Pip4k2c |
A |
C |
10: 127,036,069 (GRCm39) |
L266R |
probably damaging |
Het |
Plg |
T |
C |
17: 12,609,213 (GRCm39) |
Y173H |
probably benign |
Het |
Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
Ppp1r16b |
T |
A |
2: 158,537,998 (GRCm39) |
Y40N |
probably damaging |
Het |
Prl5a1 |
A |
G |
13: 28,329,492 (GRCm39) |
E57G |
possibly damaging |
Het |
Prpf3 |
G |
A |
3: 95,758,931 (GRCm39) |
R74* |
probably null |
Het |
Psmb10 |
A |
G |
8: 106,664,144 (GRCm39) |
F75S |
probably benign |
Het |
Ptprm |
C |
A |
17: 67,000,483 (GRCm39) |
R1167M |
probably damaging |
Het |
Rmnd5b |
T |
C |
11: 51,517,869 (GRCm39) |
I162V |
probably damaging |
Het |
Sik1 |
T |
A |
17: 32,073,246 (GRCm39) |
K70M |
probably damaging |
Het |
Slc44a4 |
C |
T |
17: 35,147,793 (GRCm39) |
S611F |
probably benign |
Het |
St18 |
T |
C |
1: 6,873,147 (GRCm39) |
V294A |
probably benign |
Het |
Stk32a |
A |
G |
18: 43,430,620 (GRCm39) |
I177V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,080,460 (GRCm39) |
F58S |
probably benign |
Het |
Tcf7l2 |
A |
G |
19: 55,899,038 (GRCm39) |
D215G |
probably null |
Het |
Tcirg1 |
A |
T |
19: 3,953,400 (GRCm39) |
F149Y |
probably benign |
Het |
Tex14 |
T |
A |
11: 87,377,084 (GRCm39) |
F143I |
probably damaging |
Het |
Tjp3 |
A |
G |
10: 81,119,411 (GRCm39) |
V26A |
possibly damaging |
Het |
Tnfaip8 |
ACACACTCTC |
AC |
18: 50,179,908 (GRCm39) |
|
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,715,124 (GRCm39) |
V115D |
probably benign |
Het |
Tubb2b |
C |
A |
13: 34,311,742 (GRCm39) |
K350N |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,642,555 (GRCm39) |
G1389V |
possibly damaging |
Het |
Vps39 |
T |
C |
2: 120,172,485 (GRCm39) |
R183G |
probably damaging |
Het |
Wdr47 |
A |
T |
3: 108,518,729 (GRCm39) |
E72D |
probably damaging |
Het |
Wnk4 |
G |
T |
11: 101,159,250 (GRCm39) |
E556* |
probably null |
Het |
Xpo7 |
T |
A |
14: 70,925,617 (GRCm39) |
E474V |
probably benign |
Het |
Zfat |
A |
G |
15: 68,051,655 (GRCm39) |
V713A |
possibly damaging |
Het |
Zfp189 |
G |
T |
4: 49,530,058 (GRCm39) |
C387F |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,651,022 (GRCm39) |
V502A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTGAACTCTGAGCCACCTC -3'
(R):5'- TCAGCAAAAGTGTGGCTGC -3'
Sequencing Primer
(F):5'- GAACTCTGAGCCACCTCTAGCTG -3'
(R):5'- GCTGCTGATGCACTGGAAACTG -3'
|
Posted On |
2022-09-12 |