Incidental Mutation 'R1192:Exosc9'
| ID |
100862 |
| 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 |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 36606904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029269]
[ENSMUST00000136890]
[ENSMUST00000155866]
|
| AlphaFold |
Q9JHI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029269
|
| SMART Domains |
Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
| 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 benign
Transcript: ENSMUST00000136890
|
| SMART Domains |
Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714
| 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
|
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
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 |
|
R0909:Exosc9
|
UTSW |
3 |
36,608,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCTAATCTCCACTGCGATGCC -3'
(R):5'- CAACGTCCCTGCCACTGAATACTG -3'
Sequencing Primer
(F):5'- GGAAATCTTCGTTGATTTGCTACAC -3'
(R):5'- CACTGAATACTGCTGGCTTAAGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation