Incidental Mutation 'IGL02880:Exosc10'
ID |
362763 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Exosc10
|
Ensembl Gene |
ENSMUSG00000017264 |
Gene Name |
exosome component 10 |
Synonyms |
PM-Scl, Pmscl2, p2, p3, p4, RRP6, PM/Scl-100 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL02880
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148660640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 706
(S706P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
AlphaFold |
P56960 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017408
AA Change: S706P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000017408 Gene: ENSMUSG00000017264 AA Change: S706P
Domain | Start | End | E-Value | Type |
Pfam:PMC2NT
|
44 |
133 |
2.7e-26 |
PFAM |
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
low complexity region
|
745 |
760 |
N/A |
INTRINSIC |
coiled coil region
|
769 |
800 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076022
|
SMART Domains |
Protein: ENSMUSP00000075401 Gene: ENSMUSG00000017264
Domain | Start | End | E-Value | Type |
Pfam:PMC2NT
|
43 |
134 |
5.1e-30 |
PFAM |
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
low complexity region
|
720 |
735 |
N/A |
INTRINSIC |
coiled coil region
|
744 |
775 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097781
|
SMART Domains |
Protein: ENSMUSP00000095388 Gene: ENSMUSG00000017264
Domain | Start | End | E-Value | Type |
Pfam:PMC2NT
|
43 |
134 |
1.4e-30 |
PFAM |
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173892
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele appear phenotypically normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
Het |
|
Other mutations in Exosc10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01400:Exosc10
|
APN |
4 |
148,649,728 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01591:Exosc10
|
APN |
4 |
148,647,344 (GRCm39) |
unclassified |
probably benign |
|
IGL01990:Exosc10
|
APN |
4 |
148,650,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02137:Exosc10
|
APN |
4 |
148,645,590 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02186:Exosc10
|
APN |
4 |
148,649,755 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02412:Exosc10
|
APN |
4 |
148,652,849 (GRCm39) |
missense |
probably benign |
0.15 |
R0172:Exosc10
|
UTSW |
4 |
148,649,814 (GRCm39) |
missense |
probably benign |
0.02 |
R0267:Exosc10
|
UTSW |
4 |
148,647,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0592:Exosc10
|
UTSW |
4 |
148,665,570 (GRCm39) |
missense |
probably benign |
|
R1122:Exosc10
|
UTSW |
4 |
148,650,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1218:Exosc10
|
UTSW |
4 |
148,654,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Exosc10
|
UTSW |
4 |
148,666,243 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1591:Exosc10
|
UTSW |
4 |
148,652,840 (GRCm39) |
missense |
probably benign |
0.04 |
R1719:Exosc10
|
UTSW |
4 |
148,652,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Exosc10
|
UTSW |
4 |
148,662,926 (GRCm39) |
nonsense |
probably null |
|
R3727:Exosc10
|
UTSW |
4 |
148,649,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R3842:Exosc10
|
UTSW |
4 |
148,648,322 (GRCm39) |
nonsense |
probably null |
|
R3876:Exosc10
|
UTSW |
4 |
148,657,376 (GRCm39) |
missense |
probably benign |
0.00 |
R4476:Exosc10
|
UTSW |
4 |
148,649,781 (GRCm39) |
missense |
probably damaging |
0.98 |
R4750:Exosc10
|
UTSW |
4 |
148,646,851 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5306:Exosc10
|
UTSW |
4 |
148,646,849 (GRCm39) |
missense |
probably benign |
0.13 |
R5438:Exosc10
|
UTSW |
4 |
148,650,799 (GRCm39) |
nonsense |
probably null |
|
R5835:Exosc10
|
UTSW |
4 |
148,649,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Exosc10
|
UTSW |
4 |
148,657,819 (GRCm39) |
missense |
probably benign |
0.01 |
R6116:Exosc10
|
UTSW |
4 |
148,657,810 (GRCm39) |
missense |
probably benign |
0.08 |
R6217:Exosc10
|
UTSW |
4 |
148,666,768 (GRCm39) |
splice site |
probably null |
|
R6365:Exosc10
|
UTSW |
4 |
148,645,562 (GRCm39) |
missense |
probably benign |
0.13 |
R6495:Exosc10
|
UTSW |
4 |
148,647,329 (GRCm39) |
missense |
probably benign |
0.45 |
R6498:Exosc10
|
UTSW |
4 |
148,657,795 (GRCm39) |
missense |
probably benign |
|
R6772:Exosc10
|
UTSW |
4 |
148,665,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R7297:Exosc10
|
UTSW |
4 |
148,664,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R7523:Exosc10
|
UTSW |
4 |
148,648,299 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7698:Exosc10
|
UTSW |
4 |
148,642,955 (GRCm39) |
missense |
probably benign |
|
R7967:Exosc10
|
UTSW |
4 |
148,649,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R8225:Exosc10
|
UTSW |
4 |
148,649,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8477:Exosc10
|
UTSW |
4 |
148,649,847 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8510:Exosc10
|
UTSW |
4 |
148,648,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R8825:Exosc10
|
UTSW |
4 |
148,653,159 (GRCm39) |
critical splice donor site |
probably null |
|
R8826:Exosc10
|
UTSW |
4 |
148,653,159 (GRCm39) |
critical splice donor site |
probably null |
|
R9080:Exosc10
|
UTSW |
4 |
148,649,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Exosc10
|
UTSW |
4 |
148,664,859 (GRCm39) |
missense |
probably benign |
0.03 |
R9159:Exosc10
|
UTSW |
4 |
148,663,916 (GRCm39) |
critical splice donor site |
probably null |
|
R9188:Exosc10
|
UTSW |
4 |
148,643,017 (GRCm39) |
missense |
probably damaging |
0.96 |
R9337:Exosc10
|
UTSW |
4 |
148,665,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Exosc10
|
UTSW |
4 |
148,649,704 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Exosc10
|
UTSW |
4 |
148,649,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |