Incidental Mutation 'R6887:Exosc8'
| ID |
536982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc8
|
| Ensembl Gene |
ENSMUSG00000027752 |
| Gene Name |
exosome component 8 |
| Synonyms |
2310032N20Rik |
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54636099-54642469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54641120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 39
(V39M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000044567]
[ENSMUST00000141191]
[ENSMUST00000153224]
[ENSMUST00000154787]
[ENSMUST00000155273]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000200441]
|
| AlphaFold |
Q9D753 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029315
|
| SMART Domains |
Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029316
AA Change: V51M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: V51M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
166 |
2.3e-29 |
PFAM |
|
Pfam:RNase_PH_C
|
191 |
258 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044567
|
| SMART Domains |
Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
63 |
174 |
2.1e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
68 |
250 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141191
|
| SMART Domains |
Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153224
AA Change: V51M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
AA Change: V51M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154787
AA Change: V39M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752
AA Change: V39M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155273
|
| SMART Domains |
Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199674
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
3.3e-39 |
PFAM |
|
low complexity region
|
424 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200439
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
2.7e-42 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200441
|
| SMART Domains |
Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,231 (GRCm39) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,960 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,248,370 (GRCm39) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,820 (GRCm39) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,501,688 (GRCm39) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,532 (GRCm39) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,565,927 (GRCm39) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,895,794 (GRCm39) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,187 (GRCm39) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,503,126 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 54,912,417 (GRCm39) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,378 (GRCm39) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,187,149 (GRCm39) |
D140A |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,335,164 (GRCm39) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,828 (GRCm39) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 44,985,088 (GRCm39) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,025,599 (GRCm39) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 76,129,111 (GRCm39) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,545,366 (GRCm39) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,330,048 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,516,760 (GRCm39) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,907,301 (GRCm39) |
|
probably benign |
Het |
| Or2y8 |
C |
A |
11: 52,036,179 (GRCm39) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,374,651 (GRCm39) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,703,830 (GRCm39) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,430 (GRCm39) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,313,363 (GRCm39) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,359,667 (GRCm39) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,247,659 (GRCm39) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,435,633 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,027,907 (GRCm39) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,693,181 (GRCm39) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,799 (GRCm39) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,310,140 (GRCm39) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,598,248 (GRCm39) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,375,802 (GRCm39) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,313,223 (GRCm39) |
I54T |
probably damaging |
Het |
|
| Other mutations in Exosc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Exosc8
|
APN |
3 |
54,636,686 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03348:Exosc8
|
APN |
3 |
54,640,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1037:Exosc8
|
UTSW |
3 |
54,640,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1233:Exosc8
|
UTSW |
3 |
54,639,419 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1623:Exosc8
|
UTSW |
3 |
54,641,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1647:Exosc8
|
UTSW |
3 |
54,641,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1928:Exosc8
|
UTSW |
3 |
54,636,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3005:Exosc8
|
UTSW |
3 |
54,639,568 (GRCm39) |
splice site |
probably null |
|
|
R4851:Exosc8
|
UTSW |
3 |
54,639,523 (GRCm39) |
unclassified |
probably benign |
|
|
R4932:Exosc8
|
UTSW |
3 |
54,636,711 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5010:Exosc8
|
UTSW |
3 |
54,636,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Exosc8
|
UTSW |
3 |
54,638,600 (GRCm39) |
unclassified |
probably benign |
|
|
R5860:Exosc8
|
UTSW |
3 |
54,642,463 (GRCm39) |
unclassified |
probably benign |
|
|
R7543:Exosc8
|
UTSW |
3 |
54,636,669 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9130:Exosc8
|
UTSW |
3 |
54,638,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTGTAAAGCGTTAATGATGC -3'
(R):5'- AAGTCACTGACCTGAACCG -3'
Sequencing Primer
(F):5'- ACCTCATAAGCATGCAGT -3'
(R):5'- TGACCTGAACCGGTCAAAAGTTTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation