Incidental Mutation 'R8225:Exosc10'
| ID |
636919 |
| 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 |
067642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148649661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 364
(V364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
| AlphaFold |
P56960 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017408
AA Change: V364I
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: V364I
| 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 |
possibly damaging
Transcript: ENSMUST00000076022
AA Change: V364I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: V364I
| 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 |
possibly damaging
Transcript: ENSMUST00000097781
AA Change: V364I
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: V364I
| 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 |
probably benign
Transcript: ENSMUST00000150723
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,597 (GRCm39) |
N82S |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,247,532 (GRCm39) |
L595Q |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,431 (GRCm39) |
T25A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,984,305 (GRCm39) |
T478S |
|
Het |
| Cacna1d |
A |
G |
14: 29,844,990 (GRCm39) |
V720A |
probably benign |
Het |
| Cd109 |
G |
T |
9: 78,568,972 (GRCm39) |
K350N |
probably damaging |
Het |
| Cdk6 |
C |
A |
5: 3,440,790 (GRCm39) |
P115T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,389,759 (GRCm39) |
N363S |
probably damaging |
Het |
| Defa42 |
T |
C |
8: 21,946,418 (GRCm39) |
D39G |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,447 (GRCm39) |
K517* |
probably null |
Het |
| Dynlt1a |
G |
T |
17: 6,361,628 (GRCm39) |
Q71K |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,796 (GRCm39) |
T591I |
possibly damaging |
Het |
| Fabp3-ps1 |
A |
G |
10: 86,568,098 (GRCm39) |
I52T |
noncoding transcript |
Het |
| Fndc3a |
T |
C |
14: 72,795,117 (GRCm39) |
Q766R |
probably benign |
Het |
| Gm10608 |
CACACACACAGA |
CA |
9: 118,989,776 (GRCm39) |
|
probably null |
Het |
| Gm10645 |
C |
T |
8: 83,892,467 (GRCm39) |
R80H |
unknown |
Het |
| Gpr146 |
A |
T |
5: 139,378,371 (GRCm39) |
M58L |
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,532,764 (GRCm39) |
F639L |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,729,970 (GRCm39) |
I136V |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,726 (GRCm39) |
V172M |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,406,849 (GRCm39) |
|
probably null |
Het |
| Nagpa |
C |
A |
16: 5,016,724 (GRCm39) |
D334Y |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,493 (GRCm39) |
I57T |
possibly damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,507 (GRCm39) |
N43I |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,312,983 (GRCm39) |
L432Q |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,139,038 (GRCm39) |
L1710P |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,439,702 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
A |
G |
11: 116,344,894 (GRCm39) |
L1721P |
probably damaging |
Het |
| Sbsn |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
7: 30,451,419 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,451,869 (GRCm39) |
F295L |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,738,224 (GRCm38) |
R153* |
probably null |
Het |
| Sult6b2 |
A |
T |
6: 142,750,055 (GRCm39) |
M21K |
probably benign |
Het |
| Swt1 |
A |
C |
1: 151,297,859 (GRCm39) |
S23A |
possibly damaging |
Het |
| Synm |
A |
C |
7: 67,408,797 (GRCm39) |
S194A |
probably benign |
Het |
| Sytl2 |
G |
A |
7: 90,024,725 (GRCm39) |
A238T |
probably benign |
Het |
| Tax1bp1 |
G |
A |
6: 52,721,340 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
G |
A |
5: 137,569,725 (GRCm39) |
A74T |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,025,046 (GRCm39) |
T389I |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,783,807 (GRCm39) |
R222Q |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,954,758 (GRCm39) |
C1094R |
probably benign |
Het |
| Ube2q2l |
A |
T |
6: 136,378,110 (GRCm39) |
L240Q |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,158,634 (GRCm39) |
S471G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,471,915 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,528 (GRCm39) |
R2313G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,917,720 (GRCm39) |
C1301S |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,964,796 (GRCm39) |
S164C |
possibly damaging |
Het |
| Ythdc1 |
G |
T |
5: 86,964,797 (GRCm39) |
S164I |
possibly damaging |
Het |
| Zbtb9 |
T |
A |
17: 27,193,759 (GRCm39) |
I388N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,359 (GRCm39) |
I685V |
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 |
|
|
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 |
|
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'- TGCACAGTTACAGACAGGC -3'
(R):5'- ACTGAACTGACCGTATCCTCC -3'
Sequencing Primer
(F):5'- CAGTTACAGACAGGCTCAGAGC -3'
(R):5'- CAGTCTGCCAGCTGATATTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation