Incidental Mutation 'R0592:Exosc10'
ID |
56018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exosc10
|
Ensembl Gene |
ENSMUSG00000017264 |
Gene Name |
exosome component 10 |
Synonyms |
PM-Scl, Pmscl2, p2, p3, p4, RRP6, PM/Scl-100 |
MMRRC Submission |
038782-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R0592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148665570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 811
(S811P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
AlphaFold |
P56960 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017408
AA Change: S836P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017408 Gene: ENSMUSG00000017264 AA Change: S836P
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
AA Change: S811P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075401 Gene: ENSMUSG00000017264 AA Change: S811P
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: ENSMUST00000138492
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173767
|
Meta Mutation Damage Score |
0.0607 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (35/35) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
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 |
IGL02880:Exosc10
|
APN |
4 |
148,660,640 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATGTCAGCTCACTTTGTCACC -3'
(R):5'- GGCCAGAAAGCCCATACTGTTCTC -3'
Sequencing Primer
(F):5'- TTGTCACCAGTGCCATGAG -3'
(R):5'- TCGCACTCTCACACATTAGTAAATTC -3'
|
Posted On |
2013-07-11 |