Incidental Mutation 'R7786:Emc8'
| ID |
599541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc8
|
| Ensembl Gene |
ENSMUSG00000031819 |
| Gene Name |
ER membrane protein complex subunit 8 |
| Synonyms |
Fam158b, Noc4, Cox4nb |
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121380653-121394826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121394656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 21
(Y21C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034276]
[ENSMUST00000034277]
[ENSMUST00000127664]
[ENSMUST00000180417]
[ENSMUST00000181333]
[ENSMUST00000181334]
[ENSMUST00000181586]
[ENSMUST00000181795]
[ENSMUST00000181847]
[ENSMUST00000181950]
|
| AlphaFold |
O70378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034276
|
| SMART Domains |
Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX4
|
28 |
168 |
2.5e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034277
AA Change: Y21C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819
AA Change: Y21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
3 |
199 |
4.2e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180417
AA Change: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819
AA Change: Y21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
1 |
103 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181333
AA Change: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919
AA Change: Y21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
1 |
79 |
4.9e-29 |
PFAM |
|
Pfam:DUF4597
|
93 |
155 |
2.5e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181334
AA Change: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819
AA Change: Y21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
1 |
101 |
6.8e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181586
|
| SMART Domains |
Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX4
|
26 |
168 |
3.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181795
|
| SMART Domains |
Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX4
|
2 |
92 |
4.5e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181847
|
| SMART Domains |
Protein: ENSMUSP00000138053
Gene: ENSMUSG00000031818
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2Y69|Q
|
1 |
35 |
4e-7 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181950
AA Change: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819
AA Change: Y21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
1 |
74 |
1.7e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.8297 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Emc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Emc8
|
APN |
8 |
121,385,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Emc8
|
UTSW |
8 |
121,385,822 (GRCm39) |
intron |
probably benign |
|
|
R1512:Emc8
|
UTSW |
8 |
121,384,983 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1715:Emc8
|
UTSW |
8 |
121,385,294 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3789:Emc8
|
UTSW |
8 |
121,384,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4668:Emc8
|
UTSW |
8 |
121,394,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Emc8
|
UTSW |
8 |
121,385,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Emc8
|
UTSW |
8 |
121,385,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7464:Emc8
|
UTSW |
8 |
121,394,657 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9525:Emc8
|
UTSW |
8 |
121,394,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTACAAAACCTCGAGAGCTC -3'
(R):5'- GCTTTCCGGCAGACGTTTTC -3'
Sequencing Primer
(F):5'- ACCTCGAGAGCTCCCCGG -3'
(R):5'- ACGTTTTCCGGCCGACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation