Incidental Mutation 'IGL02072:Exosc9'
| ID |
185875 |
| 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 # |
IGL02072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36608821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 140
(N140I)
|
| 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: N140I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: N140I
| 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: N56I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714
AA Change: N56I
| 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 damaging
Transcript: ENSMUST00000155866
AA Change: N140I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: N140I
| 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
|
| Meta Mutation Damage Score |
0.9285 |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
| Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
| Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
| Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
| Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
| Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
| Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
| Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
| Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
| Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
| Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
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 |
|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation