Incidental Mutation 'PIT4480001:Emc1'
| ID |
554850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc1
|
| Ensembl Gene |
ENSMUSG00000078517 |
| Gene Name |
ER membrane protein complex subunit 1 |
| Synonyms |
C230096C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
PIT4480001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139352587-139378730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139359277 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 184
(S184P)
|
| 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: S184P
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: S184P
| 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: S184P
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: S184P
| 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 |
possibly damaging
Transcript: ENSMUST00000155700
AA Change: S11P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179784
AA Change: S184P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: S184P
| 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: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
T |
C |
10: 82,283,752 (GRCm38) |
M4475V |
probably benign |
Het |
| Actn3 |
G |
A |
19: 4,867,577 (GRCm38) |
Q413* |
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,773,924 (GRCm38) |
S1238N |
possibly damaging |
Het |
| Arsk |
T |
C |
13: 76,062,365 (GRCm38) |
E521G |
probably damaging |
Het |
| Baiap2 |
A |
G |
11: 119,997,087 (GRCm38) |
T356A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,217,965 (GRCm38) |
R756H |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 86,032,414 (GRCm38) |
P453S |
probably damaging |
Het |
| Cep41 |
G |
A |
6: 30,658,413 (GRCm38) |
P196S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,071,778 (GRCm38) |
Y89* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,757,210 (GRCm38) |
F919S |
probably damaging |
Het |
| Cntrl |
C |
T |
2: 35,155,428 (GRCm38) |
H1383Y |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,253,592 (GRCm38) |
S1037P |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,671,374 (GRCm38) |
S380T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,260,658 (GRCm38) |
S323T |
probably benign |
Het |
| Dicer1 |
G |
T |
12: 104,696,544 (GRCm38) |
Q1593K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,101,880 (GRCm38) |
I2367V |
probably benign |
Het |
| Eps8l1 |
G |
A |
7: 4,471,415 (GRCm38) |
S295N |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,075,543 (GRCm38) |
M914K |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,091,803 (GRCm38) |
E37G |
probably damaging |
Het |
| Fam49b |
G |
A |
15: 63,956,641 (GRCm38) |
T11I |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,828,650 (GRCm38) |
Y820* |
probably null |
Het |
| Gipr |
T |
C |
7: 19,162,934 (GRCm38) |
Y137C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,627,746 (GRCm38) |
V148A |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,497,341 (GRCm38) |
V79A |
probably damaging |
Het |
| Grk2 |
G |
A |
19: 4,287,409 (GRCm38) |
R617C |
possibly damaging |
Het |
| Inpp4b |
A |
C |
8: 82,046,267 (GRCm38) |
E730A |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,685,134 (GRCm38) |
T579I |
probably benign |
Het |
| Kif15 |
A |
T |
9: 123,011,543 (GRCm38) |
M1201L |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,751,226 (GRCm38) |
N631S |
possibly damaging |
Het |
| Mdh1 |
G |
A |
11: 21,558,538 (GRCm38) |
S268L |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,541,365 (GRCm38) |
T314S |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,213,918 (GRCm38) |
Q233R |
probably benign |
Het |
| Olfr1141 |
T |
C |
2: 87,753,783 (GRCm38) |
D70G |
possibly damaging |
Het |
| Olfr738 |
T |
C |
14: 50,413,915 (GRCm38) |
F124L |
probably benign |
Het |
| Paqr5 |
T |
A |
9: 61,956,156 (GRCm38) |
I295L |
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,756,560 (GRCm38) |
H379Y |
unknown |
Het |
| Phtf2 |
A |
T |
5: 20,813,244 (GRCm38) |
I33N |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,723,496 (GRCm38) |
M115V |
probably benign |
Het |
| Ppp2r3a |
A |
G |
9: 101,126,377 (GRCm38) |
Y431H |
possibly damaging |
Het |
| Prph2 |
GT |
G |
17: 46,911,113 (GRCm38) |
|
probably null |
Het |
| Psmd1 |
C |
T |
1: 86,128,238 (GRCm38) |
P774L |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,297,340 (GRCm38) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,397,670 (GRCm38) |
D770G |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,050,812 (GRCm38) |
L439P |
probably damaging |
Het |
| Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,749,825 (GRCm38) |
|
probably null |
Het |
| Sox6 |
T |
C |
7: 115,597,509 (GRCm38) |
I295M |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,859,413 (GRCm38) |
D301E |
probably benign |
Het |
| Tas2r117 |
G |
A |
6: 132,803,051 (GRCm38) |
V51I |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,834,735 (GRCm38) |
R171C |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm38) |
I320V |
probably benign |
Het |
| Tjp3 |
C |
A |
10: 81,279,257 (GRCm38) |
G396W |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,599,260 (GRCm38) |
N4D |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 19,007,323 (GRCm38) |
N165D |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,037,911 (GRCm38) |
Y138F |
probably benign |
Het |
| Utp4 |
T |
C |
8: 106,906,185 (GRCm38) |
S267P |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,963,367 (GRCm38) |
L803* |
probably null |
Het |
| Zbbx |
T |
A |
3: 75,136,487 (GRCm38) |
D35V |
probably damaging |
Het |
| Zscan12 |
T |
G |
13: 21,368,574 (GRCm38) |
N189K |
possibly 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 |
|
|
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 |
|
R6371:Emc1
|
UTSW |
4 |
139,371,665 (GRCm38) |
nonsense |
probably null |
|
|
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'- TGAGACAGACAACTCCGCTTG -3'
(R):5'- GTATGCTGAGGACAAGCCAG -3'
Sequencing Primer
(F):5'- GGGGCTTTTCAGCTAGTGATACC -3'
(R):5'- TCAGGAACACAGCTGCCTTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation