Incidental Mutation 'IGL01718:Exosc9'
ID |
105017 |
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 # |
IGL01718
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
36606755-36619876 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 36608078 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 |
|
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 |
Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
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 |
|
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 |
|
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 |
2014-01-21 |