Incidental Mutation 'R4288:Exosc9'
| ID |
322092 |
| 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 |
041653-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4288 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36617365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 373
(T373I)
|
| 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: T373I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: T373I
| 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: T71I
|
| SMART Domains |
Protein: ENSMUSP00000117235
Gene: ENSMUSG00000027714
AA Change: T71I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (34/35) |
| 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 |
|---|
| Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
| Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
| Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
| Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
| Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
probably 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 |
|
|
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 |
|
R1192:Exosc9
|
UTSW |
3 |
36,606,904 (GRCm39) |
unclassified |
probably benign |
|
|
R2516:Exosc9
|
UTSW |
3 |
36,617,311 (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'- GGAAATCTGATCTCTTCTTGGTAGC -3'
(R):5'- TAAACAAGGCTGTTGGCAGG -3'
Sequencing Primer
(F):5'- TCTTGGTAGCTCATTAAATAACAGTG -3'
(R):5'- TCTCCACAGTGCTGGGATCAAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation