Incidental Mutation 'R6371:Emc1'
| ID |
513514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| MMRRC Submission |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 139371665 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 820
(Q820*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042096]
[ENSMUST00000082262]
[ENSMUST00000147999]
[ENSMUST00000155700]
[ENSMUST00000179784]
|
| AlphaFold |
Q8C7X2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042096
AA Change: Q817*
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: Q817*
| 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 null
Transcript: ENSMUST00000082262
AA Change: Q820*
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: Q820*
| 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 null
Transcript: ENSMUST00000179784
AA Change: Q820*
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: Q820*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,490,274 (GRCm38) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,808,879 (GRCm38) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,790,066 (GRCm38) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 4,973,970 (GRCm38) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,713,998 (GRCm38) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,918,822 (GRCm38) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,245,288 (GRCm38) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,740,945 (GRCm38) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 60,937,335 (GRCm38) |
K164E |
probably benign |
Het |
| Clip4 |
A |
C |
17: 71,856,464 (GRCm38) |
K677T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,460,198 (GRCm38) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,884,579 (GRCm38) |
S39P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,215,631 (GRCm38) |
N1318K |
probably benign |
Het |
| Fbxl2 |
G |
A |
9: 113,989,383 (GRCm38) |
T170I |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,995,778 (GRCm38) |
T552A |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,759,359 (GRCm38) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,820,586 (GRCm38) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 85,518,052 (GRCm38) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 181,233,467 (GRCm38) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,541,695 (GRCm38) |
Y2213H |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,388,098 (GRCm38) |
Y24H |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,699,675 (GRCm38) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,548,597 (GRCm38) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,711,212 (GRCm38) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,851,654 (GRCm38) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,745,772 (GRCm38) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,520,364 (GRCm38) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,524,179 (GRCm38) |
|
probably null |
Het |
| Ndufaf1 |
A |
T |
2: 119,660,053 (GRCm38) |
D175E |
probably damaging |
Het |
| Nop58 |
T |
G |
1: 59,711,312 (GRCm38) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 37,772,435 (GRCm38) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,313,338 (GRCm38) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,411,749 (GRCm38) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,629,532 (GRCm38) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,418,230 (GRCm38) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 21,995,513 (GRCm38) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,562,026 (GRCm38) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,966,285 (GRCm38) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,943,288 (GRCm38) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,674,741 (GRCm38) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,203,515 (GRCm38) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 67,111,346 (GRCm38) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,870,147 (GRCm38) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,626,714 (GRCm38) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,728,463 (GRCm38) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,839,245 (GRCm38) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,615,435 (GRCm38) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,221,710 (GRCm38) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 71,889,485 (GRCm38) |
Y252N |
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 |
|
R5322:Emc1
|
UTSW |
4 |
139,354,246 (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 |
|
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'- AGCAGCTGGGTCTTTTCCTC -3'
(R):5'- AAGTGGCTCATGAAATCCAGCAC -3'
Sequencing Primer
(F):5'- TCCCTGGTCTGCAGCTG -3'
(R):5'- AGGGCAGAGCATCCTCACAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation