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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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