Incidental Mutation 'R6772:Exosc10'
| ID |
532199 |
| 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 |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148665591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 818
(D818N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
| AlphaFold |
P56960 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017408
AA Change: D843N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: D843N
| 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 damaging
Transcript: ENSMUST00000076022
AA Change: D818N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: D818N
| 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 |
|
| Meta Mutation Damage Score |
0.1568 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
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 |
|
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 |
|
|
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'- TTGTCACCAGTGCCATGAG -3'
(R):5'- AGCCCATACTGTTCTCTGGC -3'
Sequencing Primer
(F):5'- ACGCAGAAGTGTCAGCCTG -3'
(R):5'- GGCTTTTCGCACTCTCACACATTAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation