Incidental Mutation 'IGL03348:Exosc8'
| ID |
419549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exosc8
|
| Ensembl Gene |
ENSMUSG00000027752 |
| Gene Name |
exosome component 8 |
| Synonyms |
2310032N20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
54636099-54642469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54640143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 72
(D72E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000044567]
[ENSMUST00000154787]
[ENSMUST00000153224]
[ENSMUST00000155273]
[ENSMUST00000197502]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000141191]
[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 |
possibly damaging
Transcript: ENSMUST00000029316
AA Change: D72E
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: D72E
| 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 |
probably benign
Transcript: ENSMUST00000154787
AA Change: D60E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752
AA Change: D60E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153224
AA Change: D72E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
AA Change: D72E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142377
|
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
A |
C |
8: 100,148,324 (GRCm39) |
|
noncoding transcript |
Het |
| Actmap |
T |
G |
7: 26,896,545 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,647,177 (GRCm39) |
N3121S |
possibly damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,791,399 (GRCm39) |
R102Q |
possibly damaging |
Het |
| Atp9b |
A |
T |
18: 80,879,637 (GRCm39) |
I346K |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,341 (GRCm39) |
K388R |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,966,778 (GRCm39) |
I303S |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,600,712 (GRCm39) |
S791P |
possibly damaging |
Het |
| Ctsz |
T |
A |
2: 174,270,490 (GRCm39) |
I231F |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,960 (GRCm39) |
T2431A |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 102,001,466 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,809 (GRCm39) |
I67V |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,683,440 (GRCm39) |
V55D |
probably damaging |
Het |
| F5 |
C |
T |
1: 164,021,721 (GRCm39) |
P1399S |
possibly damaging |
Het |
| Fmo1 |
T |
A |
1: 162,677,720 (GRCm39) |
N132I |
possibly damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
| Glb1l2 |
T |
C |
9: 26,676,976 (GRCm39) |
D415G |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,673,893 (GRCm39) |
H498Q |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,153 (GRCm39) |
N342S |
probably benign |
Het |
| Mbnl3 |
G |
A |
X: 50,253,425 (GRCm39) |
T16I |
probably damaging |
Het |
| Mrps5 |
T |
G |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,696 (GRCm39) |
Y355C |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,941,188 (GRCm39) |
D5105E |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,485 (GRCm39) |
|
noncoding transcript |
Het |
| Or4f56 |
C |
A |
2: 111,703,493 (GRCm39) |
A236S |
probably damaging |
Het |
| Or4k15b |
A |
G |
14: 50,272,212 (GRCm39) |
I216T |
probably benign |
Het |
| Or5p73 |
A |
G |
7: 108,064,615 (GRCm39) |
D28G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,405,272 (GRCm39) |
|
probably benign |
Het |
| Plac1 |
A |
T |
X: 52,159,517 (GRCm39) |
N64K |
probably damaging |
Het |
| Plcd1 |
C |
A |
9: 118,901,558 (GRCm39) |
K655N |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,826,796 (GRCm39) |
S1772P |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,815,089 (GRCm39) |
V130I |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,170 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,113,635 (GRCm39) |
G1004E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,647,580 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
C |
T |
19: 38,905,064 (GRCm39) |
T593I |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,815,100 (GRCm39) |
E526D |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,414,942 (GRCm39) |
V215M |
possibly damaging |
Het |
| Trappc8 |
T |
C |
18: 20,985,838 (GRCm39) |
D601G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,313 (GRCm39) |
N971K |
probably damaging |
Het |
| Ube2g2 |
A |
T |
10: 77,466,711 (GRCm39) |
E36D |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,308,300 (GRCm39) |
R360S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,179 (GRCm39) |
V2182A |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation