Incidental Mutation 'R5306:Exosc10'
| ID |
404549 |
| 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 |
042889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R5306 (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 148646849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 153
(V153A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
[ENSMUST00000103221]
|
| AlphaFold |
P56960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017408
AA Change: V153A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: V153A
| 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: V153A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: V153A
| 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
AA Change: V153A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: V153A
| 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: ENSMUST00000103221
|
| SMART Domains |
Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
790 |
N/A |
INTRINSIC |
|
DUF3385
|
854 |
1024 |
1.51e-93 |
SMART |
|
low complexity region
|
1279 |
1300 |
N/A |
INTRINSIC |
|
Pfam:FAT
|
1513 |
1908 |
2.3e-134 |
PFAM |
|
Rapamycin_bind
|
2015 |
2114 |
7.94e-61 |
SMART |
|
PI3Kc
|
2183 |
2484 |
8.84e-121 |
SMART |
|
FATC
|
2517 |
2549 |
2.11e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173767
|
| Meta Mutation Damage Score |
0.1308 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,792 (GRCm39) |
D554V |
probably damaging |
Het |
| Ankrd44 |
G |
A |
1: 54,965,362 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,253,811 (GRCm39) |
C297* |
probably null |
Het |
| Asb14 |
G |
A |
14: 26,633,866 (GRCm39) |
C357Y |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,707,230 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
A |
5: 107,493,010 (GRCm39) |
D112E |
probably damaging |
Het |
| Capsl |
C |
A |
15: 9,457,876 (GRCm39) |
Q32K |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,061,096 (GRCm39) |
D81G |
probably damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,910 (GRCm39) |
R265G |
probably benign |
Het |
| Cep104 |
C |
A |
4: 154,090,699 (GRCm39) |
T884K |
probably benign |
Het |
| Cmbl |
T |
C |
15: 31,582,215 (GRCm39) |
Y71H |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,380,356 (GRCm39) |
|
probably benign |
Het |
| Dynlt1c |
T |
C |
17: 6,869,210 (GRCm39) |
M1T |
probably null |
Het |
| Erbb2 |
T |
C |
11: 98,319,032 (GRCm39) |
S574P |
probably benign |
Het |
| Faxc |
G |
T |
4: 21,931,557 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,791,243 (GRCm39) |
T835A |
probably damaging |
Het |
| Fmo5 |
G |
T |
3: 97,549,076 (GRCm39) |
M241I |
probably benign |
Het |
| Gabra1 |
A |
C |
11: 42,024,379 (GRCm39) |
I432S |
probably benign |
Het |
| Gfap |
A |
G |
11: 102,786,574 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12185 |
T |
A |
11: 48,806,382 (GRCm39) |
M270L |
probably benign |
Het |
| Gm14443 |
T |
C |
2: 175,011,372 (GRCm39) |
N358S |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,938,490 (GRCm39) |
V61M |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,834,709 (GRCm39) |
T3229M |
probably damaging |
Het |
| Ifit3 |
A |
G |
19: 34,565,207 (GRCm39) |
Y251C |
probably damaging |
Het |
| Inf2 |
G |
A |
12: 112,567,987 (GRCm39) |
V180I |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,959,665 (GRCm39) |
Y91H |
probably damaging |
Het |
| Ints4 |
A |
C |
7: 97,158,885 (GRCm39) |
D419A |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,331 (GRCm39) |
S1175P |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,315,730 (GRCm39) |
V44E |
probably damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,940 (GRCm39) |
|
noncoding transcript |
Het |
| Myh2 |
T |
C |
11: 67,077,382 (GRCm39) |
L839P |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,167,007 (GRCm39) |
|
probably benign |
Het |
| Or6c70 |
A |
C |
10: 129,709,810 (GRCm39) |
I272R |
probably damaging |
Het |
| Pced1a |
T |
A |
2: 130,261,091 (GRCm39) |
H422L |
probably benign |
Het |
| Plpp1 |
G |
T |
13: 112,988,089 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,183,056 (GRCm39) |
Y949C |
probably damaging |
Het |
| Polg2 |
G |
A |
11: 106,669,796 (GRCm39) |
T158I |
probably damaging |
Het |
| Prss38 |
A |
T |
11: 59,263,821 (GRCm39) |
I297K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,846,431 (GRCm39) |
L98P |
probably damaging |
Het |
| Rab11b |
G |
A |
17: 33,979,243 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Serpine3 |
G |
A |
14: 62,908,382 (GRCm39) |
A137T |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,071,997 (GRCm39) |
F282L |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,338,198 (GRCm39) |
Y109F |
possibly damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Smc5 |
A |
G |
19: 23,237,009 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,675,735 (GRCm39) |
E628G |
probably damaging |
Het |
| Tmem236 |
A |
T |
2: 14,223,975 (GRCm39) |
K255* |
probably null |
Het |
| Ttc29 |
T |
A |
8: 78,978,539 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,222 (GRCm39) |
I430T |
probably damaging |
Het |
| Uckl1 |
A |
G |
2: 181,216,160 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
C |
7: 9,904,672 (GRCm39) |
I389R |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,688 (GRCm39) |
F352Y |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 7,953,754 (GRCm39) |
D379G |
probably benign |
Het |
| Zfp408 |
T |
A |
2: 91,476,690 (GRCm39) |
M155L |
probably benign |
Het |
| Zfp459 |
T |
A |
13: 67,561,249 (GRCm39) |
Q66H |
probably damaging |
Het |
| Zfp870 |
C |
A |
17: 33,102,627 (GRCm39) |
G234V |
probably damaging |
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 |
|
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'- ACCACGTATTTCTGTGACTACG -3'
(R):5'- CTCAGGACCACACATTTGGAATG -3'
Sequencing Primer
(F):5'- ACTACGTTTCTTGAGGATGTCAG -3'
(R):5'- GGGTTCAAGTGCCACATGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation