Incidental Mutation 'IGL02871:Exosc9'
| ID |
362577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exosc9
|
| Ensembl Gene |
ENSMUSG00000027714 |
| Gene Name |
exosome component 9 |
| Synonyms |
p5, PM/Scl-75, p6, Pmscl1, RRP45 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36619430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 408
(N408S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029269]
[ENSMUST00000029270]
[ENSMUST00000147380]
[ENSMUST00000155866]
[ENSMUST00000196316]
|
| AlphaFold |
Q9JHI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029269
AA Change: N408S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: N408S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
163 |
1.7e-25 |
PFAM |
|
Pfam:RNase_PH_C
|
189 |
255 |
3.4e-14 |
PFAM |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029270
|
| SMART Domains |
Protein: ENSMUSP00000029270
Gene: ENSMUSG00000027715
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_N2
|
22 |
157 |
7.2e-50 |
PFAM |
|
CYCLIN
|
206 |
290 |
1.07e-28 |
SMART |
|
Cyclin_C
|
299 |
417 |
4.09e-31 |
SMART |
|
CYCLIN
|
303 |
386 |
1.02e-11 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131316
AA Change: N106S
|
| SMART Domains |
Protein: ENSMUSP00000117235
Gene: ENSMUSG00000027714
AA Change: N106S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147380
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155866
|
| SMART Domains |
Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
163 |
2.6e-25 |
PFAM |
|
Pfam:RNase_PH_C
|
189 |
241 |
1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196316
|
| SMART Domains |
Protein: ENSMUSP00000142946
Gene: ENSMUSG00000027715
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
69 |
153 |
6.6e-31 |
SMART |
|
Cyclin_C
|
162 |
280 |
2e-35 |
SMART |
|
CYCLIN
|
166 |
249 |
6.1e-14 |
SMART |
|
| 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 component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly damaging |
Het |
|
| Other mutations in Exosc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Exosc9
|
APN |
3 |
36,607,288 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00949:Exosc9
|
APN |
3 |
36,617,415 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01718:Exosc9
|
APN |
3 |
36,608,078 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02072:Exosc9
|
APN |
3 |
36,608,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Exosc9
|
APN |
3 |
36,606,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02439:Exosc9
|
APN |
3 |
36,607,180 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02994:Exosc9
|
APN |
3 |
36,607,287 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03144:Exosc9
|
APN |
3 |
36,608,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0909:Exosc9
|
UTSW |
3 |
36,608,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1192:Exosc9
|
UTSW |
3 |
36,606,904 (GRCm39) |
unclassified |
probably benign |
|
|
R2516:Exosc9
|
UTSW |
3 |
36,617,311 (GRCm39) |
missense |
probably benign |
|
|
R4288:Exosc9
|
UTSW |
3 |
36,617,365 (GRCm39) |
missense |
probably benign |
|
|
R4770:Exosc9
|
UTSW |
3 |
36,607,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5875:Exosc9
|
UTSW |
3 |
36,615,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5928:Exosc9
|
UTSW |
3 |
36,609,774 (GRCm39) |
intron |
probably benign |
|
|
R6120:Exosc9
|
UTSW |
3 |
36,608,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Exosc9
|
UTSW |
3 |
36,607,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Exosc9
|
UTSW |
3 |
36,615,297 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7443:Exosc9
|
UTSW |
3 |
36,607,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Exosc9
|
UTSW |
3 |
36,607,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8735:Exosc9
|
UTSW |
3 |
36,609,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation