Incidental Mutation 'R7297:Exosc10'
ID 566724
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 045401-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7297 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 148642886-148666858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148664834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 781 (K781E)
Ref Sequence ENSEMBL: ENSMUSP00000017408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781]
AlphaFold P56960
Predicted Effect probably damaging
Transcript: ENSMUST00000017408
AA Change: K781E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: K781E

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 damaging
Transcript: ENSMUST00000076022
AA Change: K756E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: K756E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Abca6 C T 11: 110,073,852 (GRCm39) probably null Het
Adh4 A G 3: 138,134,901 (GRCm39) I358M possibly damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Arap3 G A 18: 38,106,616 (GRCm39) A1409V possibly damaging Het
Arhgap22 C T 14: 32,993,890 (GRCm39) R68* probably null Het
Arhgef4 A T 1: 34,846,273 (GRCm39) D207V probably damaging Het
Asb15 A G 6: 24,566,462 (GRCm39) T472A probably damaging Het
Ascl1 A T 10: 87,328,326 (GRCm39) S209T probably damaging Het
Asxl1 T C 2: 153,239,355 (GRCm39) V382A probably benign Het
Atp11a T C 8: 12,856,774 (GRCm39) probably null Het
Calu C T 6: 29,356,554 (GRCm39) R27* probably null Het
Cdh20 A G 1: 104,898,598 (GRCm39) T442A probably benign Het
Chrm3 T A 13: 9,927,869 (GRCm39) Q389L probably benign Het
Cntnap1 A G 11: 101,079,460 (GRCm39) T1233A probably benign Het
Cwc15 G A 9: 14,421,525 (GRCm39) C197Y probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dennd3 C T 15: 73,429,459 (GRCm39) T914I probably damaging Het
Dlx3 C A 11: 95,011,276 (GRCm39) Y43* probably null Het
Dnah17 A T 11: 117,946,556 (GRCm39) probably null Het
Dnah17 A G 11: 117,994,182 (GRCm39) F1081S probably damaging Het
Dpp10 G A 1: 123,281,157 (GRCm39) Q631* probably null Het
Dsel T A 1: 111,789,506 (GRCm39) D343V probably damaging Het
Efcab12 T C 6: 115,787,997 (GRCm39) D655G possibly damaging Het
Epha8 T A 4: 136,673,224 (GRCm39) I187L probably damaging Het
Exosc5 T C 7: 25,365,751 (GRCm39) L200P probably benign Het
Faiml T C 9: 99,111,666 (GRCm39) E131G probably damaging Het
Gm5145 G A 17: 20,790,993 (GRCm39) V124I probably benign Het
Grm7 T C 6: 110,622,974 (GRCm39) V49A probably benign Het
Gtf2e1 T C 16: 37,356,427 (GRCm39) D35G probably damaging Het
Heatr1 C T 13: 12,435,941 (GRCm39) Q1160* probably null Het
Herc2 T A 7: 55,786,406 (GRCm39) C1584S probably benign Het
Hsd17b3 T C 13: 64,224,165 (GRCm39) I88V probably damaging Het
Hspa14 A C 2: 3,499,179 (GRCm39) L205R possibly damaging Het
Ifna11 A C 4: 88,738,662 (GRCm39) E156A possibly damaging Het
Krt87 T C 15: 101,387,528 (GRCm39) D170G probably benign Het
Mas1 T C 17: 13,060,745 (GRCm39) Y226C probably damaging Het
Micall1 T C 15: 79,005,097 (GRCm39) F190L unknown Het
Msi2 A T 11: 88,370,864 (GRCm39) L141Q probably damaging Het
Nfkbib T C 7: 28,465,768 (GRCm39) D27G probably benign Het
Nlrp9b A G 7: 19,783,438 (GRCm39) D927G possibly damaging Het
Nrg3 T C 14: 38,092,896 (GRCm39) D579G probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or8d1 G A 9: 38,767,245 (GRCm39) D296N probably damaging Het
Or8h6 A T 2: 86,703,980 (GRCm39) V29E probably damaging Het
Parp4 C T 14: 56,885,138 (GRCm39) P1406S not run Het
Pkib A T 10: 57,612,422 (GRCm39) Q101L possibly damaging Het
Plat C T 8: 23,265,713 (GRCm39) T252I probably benign Het
Ppm1d A T 11: 85,236,821 (GRCm39) E533D probably damaging Het
Psd3 T C 8: 68,573,686 (GRCm39) K165R probably damaging Het
Psg29 T A 7: 16,944,616 (GRCm39) Y375* probably null Het
Pus7 A T 5: 23,946,908 (GRCm39) I644N probably damaging Het
Rbbp9 A T 2: 144,385,722 (GRCm39) M181K probably benign Het
Rell1 A T 5: 64,093,418 (GRCm39) N112K possibly damaging Het
Simc1 AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG 13: 54,673,048 (GRCm39) probably benign Het
Skint5 G A 4: 113,400,131 (GRCm39) T1184M unknown Het
Slc27a2 T A 2: 126,420,866 (GRCm39) D452E probably damaging Het
Slc44a4 T A 17: 35,146,888 (GRCm39) I489N probably damaging Het
Slfn14 T A 11: 83,169,821 (GRCm39) K608* probably null Het
Snx15 T A 19: 6,170,537 (GRCm39) I301F probably damaging Het
Sost C T 11: 101,854,929 (GRCm39) G127R probably damaging Het
Stt3b A G 9: 115,106,025 (GRCm39) I150T probably damaging Het
Susd2 T C 10: 75,478,402 (GRCm39) D58G probably benign Het
Tex46 T G 4: 136,340,212 (GRCm39) V99G probably damaging Het
Tgfbi T A 13: 56,779,926 (GRCm39) F492I possibly damaging Het
Tmem132c G A 5: 127,437,281 (GRCm39) A257T probably benign Het
Trim2 A T 3: 84,117,540 (GRCm39) I51K probably damaging Het
Tsn A T 1: 118,228,591 (GRCm39) Y210* probably null Het
Umodl1 G A 17: 31,227,639 (GRCm39) R1324H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r5 A T 6: 56,963,204 (GRCm39) N293I possibly damaging Het
Vmn2r124 A T 17: 18,293,835 (GRCm39) I641F probably damaging Het
Vmn2r84 T C 10: 130,227,119 (GRCm39) N240D probably benign Het
Wbp1l A G 19: 46,642,839 (GRCm39) D264G possibly damaging 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
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
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'- GATGACCTGCAGACTGTGTG -3'
(R):5'- ACTGCTTGTCCCATGTACTG -3'

Sequencing Primer
(F):5'- ACCTGCAGACTGTGTGTGTAAG -3'
(R):5'- CATGTACTGGACAGGACTCAC -3'
Posted On 2019-06-26