Incidental Mutation 'R6116:Exosc10'
ID 485110
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 044265-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R6116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 148642886-148666858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148657810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 652 (L652P)
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: L652P

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: L652P

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: L652P

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: L652P

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: ENSMUST00000120110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173892
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,990,327 (GRCm39) probably benign Het
Apc A T 18: 34,449,508 (GRCm39) I2101F probably damaging Het
Bpifa3 G A 2: 153,975,633 (GRCm39) V68I possibly damaging Het
Csmd1 T A 8: 16,261,864 (GRCm39) I878F probably damaging Het
Cyp2c67 A T 19: 39,605,879 (GRCm39) M339K probably damaging Het
Dock3 A G 9: 106,809,161 (GRCm39) Y1321H probably damaging Het
Dsc1 G T 18: 20,230,356 (GRCm39) D316E probably benign Het
Eno3 C T 11: 70,552,401 (GRCm39) T351M possibly damaging Het
Erbb2 T A 11: 98,318,225 (GRCm39) F487Y probably damaging Het
Glmn A T 5: 107,705,206 (GRCm39) M470K probably damaging Het
Gm15446 T A 5: 110,090,902 (GRCm39) C385S probably damaging Het
Hspa8 A G 9: 40,716,271 (GRCm39) E581G probably damaging Het
Igfn1 T C 1: 135,898,205 (GRCm39) D787G probably benign Het
Igkv12-44 T C 6: 69,791,838 (GRCm39) T42A possibly damaging Het
Itsn2 T C 12: 4,679,939 (GRCm39) probably benign Het
Jade2 T C 11: 51,726,460 (GRCm39) E84G probably damaging Het
Lpar3 T A 3: 145,946,352 (GRCm39) M10K possibly damaging Het
Lpin2 A G 17: 71,550,925 (GRCm39) D695G probably damaging Het
Mosmo T A 7: 120,325,418 (GRCm39) L7H probably damaging Het
Ms4a8a C T 19: 11,058,436 (GRCm39) A9T unknown Het
Myb T C 10: 21,030,653 (GRCm39) D48G probably damaging Het
Neurod6 T C 6: 55,655,776 (GRCm39) Y287C probably damaging Het
Olr1 T A 6: 129,476,947 (GRCm39) D106V probably damaging Het
Or11a4 A G 17: 37,536,459 (GRCm39) T148A probably benign Het
Or8b4 A G 9: 37,829,955 (GRCm39) M1V probably null Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Ppfia3 T C 7: 45,004,127 (GRCm39) Y505C probably damaging Het
Sdk2 T A 11: 113,745,190 (GRCm39) I702F probably damaging Het
Slc16a11 T C 11: 70,106,262 (GRCm39) F119L probably benign Het
Slc2a10 A C 2: 165,359,623 (GRCm39) T496P probably damaging Het
Slc7a2 T C 8: 41,353,206 (GRCm39) Y181H probably damaging Het
Spata31e5 G A 1: 28,817,780 (GRCm39) A84V probably benign Het
Stab2 G T 10: 86,743,054 (GRCm39) P1185Q probably damaging Het
Tcf7l2 T A 19: 55,907,446 (GRCm39) S335R probably damaging Het
Ttc41 G A 10: 86,594,952 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,467,092 (GRCm39) I812N probably damaging Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y 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
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
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'- TTTGGACCCCATGACTGTTC -3'
(R):5'- TGCCCTGTAGAAAGCTCCAC -3'

Sequencing Primer
(F):5'- AGAACACCTCAACTGATGGTAAG -3'
(R):5'- TGTAGAAAGCTCCACACCTCTCTAG -3'
Posted On 2017-08-16