Incidental Mutation 'IGL02368:Exosc3'
| ID |
290814 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exosc3
|
| Ensembl Gene |
ENSMUSG00000028322 |
| Gene Name |
exosome component 3 |
| Synonyms |
2310005D06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45316613-45320616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45319671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 117
(I117T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030003]
[ENSMUST00000044673]
[ENSMUST00000107800]
|
| AlphaFold |
Q7TQK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030003
AA Change: I117T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
AA Change: I117T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
111 |
180 |
4e-36 |
BLAST |
|
Pfam:KH_6
|
196 |
243 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044673
|
| SMART Domains |
Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
135 |
308 |
2.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107800
|
| SMART Domains |
Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
133 |
306 |
1.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145756
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152056
AA Change: I29T
|
| SMART Domains |
Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
AA Change: I29T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
24 |
93 |
8e-38 |
BLAST |
|
Pfam:KH_6
|
109 |
145 |
8e-13 |
PFAM |
|
| 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 non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a conditional ready allele appear phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Exosc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Exosc3
|
APN |
4 |
45,317,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Exosc3
|
APN |
4 |
45,319,659 (GRCm39) |
missense |
probably benign |
|
|
IGL02370:Exosc3
|
APN |
4 |
45,319,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Exosc3
|
UTSW |
4 |
45,316,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Exosc3
|
UTSW |
4 |
45,319,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4161:Exosc3
|
UTSW |
4 |
45,320,619 (GRCm39) |
intron |
probably benign |
|
|
R4723:Exosc3
|
UTSW |
4 |
45,319,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5010:Exosc3
|
UTSW |
4 |
45,317,702 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6929:Exosc3
|
UTSW |
4 |
45,320,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9273:Exosc3
|
UTSW |
4 |
45,316,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation