Incidental Mutation 'R5506:Exosc8'
| ID |
430907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc8
|
| Ensembl Gene |
ENSMUSG00000027752 |
| Gene Name |
exosome component 8 |
| Synonyms |
2310032N20Rik |
| MMRRC Submission |
043067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54636099-54642469 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 54638600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000044567]
[ENSMUST00000154787]
[ENSMUST00000197502]
[ENSMUST00000199674]
[ENSMUST00000141191]
[ENSMUST00000200441]
[ENSMUST00000155273]
[ENSMUST00000200439]
[ENSMUST00000153224]
|
| 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 benign
Transcript: ENSMUST00000029316
|
| SMART Domains |
Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
| 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 |
noncoding transcript
Transcript: ENSMUST00000125632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154787
|
| SMART Domains |
Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197502
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
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
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
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: ENSMUST00000141191
|
| SMART Domains |
Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
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 |
|
| 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: 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: ENSMUST00000153224
|
| SMART Domains |
Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
| Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
| Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
| Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
| Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
| Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
| H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
| Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
| Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
| Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
| Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
| Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
|
R5860:Exosc8
|
UTSW |
3 |
54,642,463 (GRCm39) |
unclassified |
probably benign |
|
|
R6887:Exosc8
|
UTSW |
3 |
54,641,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CACTCTTAGAAAGCCTTGTAGAGTTG -3'
(R):5'- TTTGCTAGTCAAAGCCCAGC -3'
Sequencing Primer
(F):5'- TAACCTGGGCAGCGTAGTTCATAC -3'
(R):5'- AGCCCAGCTTTCCTAACCTAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation