Incidental Mutation 'R6217:Exosc10'
ID |
503772 |
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 |
044350-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R6217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 148666768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
AlphaFold |
P56960 |
Predicted Effect |
probably null
Transcript: ENSMUST00000017408
|
SMART Domains |
Protein: ENSMUSP00000017408 Gene: ENSMUSG00000017264
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 null
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: ENSMUST00000138492
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173892
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
Fcmr |
C |
T |
1: 130,806,060 (GRCm39) |
R339W |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
Gab1 |
A |
G |
8: 81,518,237 (GRCm39) |
V125A |
possibly damaging |
Het |
Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
Gon4l |
T |
C |
3: 88,799,968 (GRCm39) |
V871A |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
Osmr |
T |
C |
15: 6,853,047 (GRCm39) |
Y615C |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,224,810 (GRCm39) |
S912R |
probably damaging |
Het |
Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
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 |
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 |
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'- GCAGAACCTGTCAGGAATCAG -3'
(R):5'- GGTTTCTGGTCAGCCTCTTCAG -3'
Sequencing Primer
(F):5'- CTGTCAGGAATCAGGACAGGCC -3'
(R):5'- GTTTCTCTCCTATTCTCTGAACAAAC -3'
|
Posted On |
2018-02-27 |