Incidental Mutation 'R0909:Exosc9'
| ID |
83418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc9
|
| Ensembl Gene |
ENSMUSG00000027714 |
| Gene Name |
exosome component 9 |
| Synonyms |
p5, PM/Scl-75, p6, Pmscl1, RRP45 |
| MMRRC Submission |
039067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36608853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 151
(I151F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029269]
[ENSMUST00000136890]
[ENSMUST00000155866]
|
| AlphaFold |
Q9JHI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029269
AA Change: I151F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: I151F
| 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 |
noncoding transcript
Transcript: ENSMUST00000133854
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136890
AA Change: I67F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714
AA Change: I67F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
1 |
79 |
3e-16 |
PFAM |
|
Pfam:RNase_PH_C
|
105 |
147 |
3.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155866
AA Change: I151F
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: I151F
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
| Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
| Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
| Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
| H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
| Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
| Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
| Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
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 |
|
|
IGL02871:Exosc9
|
APN |
3 |
36,619,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02994:Exosc9
|
APN |
3 |
36,607,287 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03144:Exosc9
|
APN |
3 |
36,608,284 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGATAAACTGGAAGGATTAGCCG -3'
(R):5'- GCCACAGTTCTATTACAGGAGACCAAG -3'
Sequencing Primer
(F):5'- GGTCATGCTCAGTTGGGATT -3'
(R):5'- GAAACTTCTAGGGCATTTCTGACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation