Incidental Mutation 'R6120:Exosc9'
ID 485699
Institutional Source Beutler Lab
Gene Symbol Exosc9
Ensembl Gene ENSMUSG00000027714
Gene Name exosome component 9
Synonyms p5, PM/Scl-75, p6, Pmscl1, RRP45
MMRRC Submission 044268-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6120 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 36606755-36619876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36608821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 140 (N140I)
Ref Sequence ENSEMBL: ENSMUSP00000029269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000136890] [ENSMUST00000155866]
AlphaFold Q9JHI7
Predicted Effect probably damaging
Transcript: ENSMUST00000029269
AA Change: N140I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: N140I

DomainStartEndE-ValueType
Pfam:RNase_PH 31 163 1.7e-25 PFAM
Pfam:RNase_PH_C 189 255 3.4e-14 PFAM
low complexity region 308 324 N/A INTRINSIC
low complexity region 348 366 N/A INTRINSIC
low complexity region 396 406 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133854
Predicted Effect probably damaging
Transcript: ENSMUST00000136890
AA Change: N56I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714
AA Change: N56I

DomainStartEndE-ValueType
Pfam:RNase_PH 1 79 3e-16 PFAM
Pfam:RNase_PH_C 105 147 3.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149041
Predicted Effect probably damaging
Transcript: ENSMUST00000155866
AA Change: N140I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: N140I

DomainStartEndE-ValueType
Pfam:RNase_PH 31 163 2.6e-25 PFAM
Pfam:RNase_PH_C 189 241 1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156100
Meta Mutation Damage Score 0.9285 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.6%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,638,795 (GRCm39) V398E possibly damaging Het
Ankef1 A G 2: 136,392,296 (GRCm39) N495S probably benign Het
Bpifb3 G T 2: 153,773,363 (GRCm39) V428L probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,230,785 (GRCm39) L362S probably benign Het
Ccdc33 G A 9: 57,993,883 (GRCm39) P88S probably damaging Het
Cdk14 A T 5: 4,944,029 (GRCm39) D385E probably damaging Het
Chrna4 A G 2: 180,666,599 (GRCm39) L613P probably damaging Het
Cnot3 T A 7: 3,648,335 (GRCm39) probably null Het
Csf1 T A 3: 107,661,170 (GRCm39) I116L probably damaging Het
Csrp2 G T 10: 110,775,140 (GRCm39) A192S probably benign Het
Dnah9 T C 11: 66,038,225 (GRCm39) T104A probably benign Het
Eml1 C T 12: 108,493,983 (GRCm39) P593S probably damaging Het
Entpd2 T A 2: 25,289,478 (GRCm39) I320N probably benign Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Fgfr2 G T 7: 129,830,420 (GRCm39) T186K probably benign Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Gbf1 A G 19: 46,267,760 (GRCm39) I1203V possibly damaging Het
Gja1 T A 10: 56,264,601 (GRCm39) M320K probably benign Het
Gm5431 A G 11: 48,785,608 (GRCm39) Y256H probably benign Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Greb1 T G 12: 16,758,622 (GRCm39) D698A probably damaging Het
Hook2 A G 8: 85,724,754 (GRCm39) E500G probably damaging Het
Kif13b A T 14: 64,989,007 (GRCm39) N796I probably damaging Het
Kif1a C T 1: 92,952,296 (GRCm39) probably null Het
Lama1 T C 17: 68,087,612 (GRCm39) probably null Het
Mfsd1 C T 3: 67,501,718 (GRCm39) Q246* probably null Het
Mkrn3 A G 7: 62,069,282 (GRCm39) S170P probably benign Het
Ms4a6b A G 19: 11,499,059 (GRCm39) M58V probably benign Het
Muc4 T C 16: 32,577,169 (GRCm39) V2223A unknown Het
Mycbp2 A T 14: 103,513,323 (GRCm39) V811D probably benign Het
Or5p59 A T 7: 107,703,340 (GRCm39) N275Y probably damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or9g4b T C 2: 85,616,685 (GRCm39) F277L probably damaging Het
Pcsk2 A G 2: 143,643,031 (GRCm39) E436G probably damaging Het
Pet100 T G 8: 3,671,764 (GRCm39) probably null Het
Pira2 A G 7: 3,844,553 (GRCm39) Y493H probably damaging Het
Prkdc C A 16: 15,557,335 (GRCm39) R2213S probably benign Het
Prmt2 A G 10: 76,045,280 (GRCm39) I342T possibly damaging Het
Psmc6 A G 14: 45,586,130 (GRCm39) E381G possibly damaging Het
Rrm1 G A 7: 102,110,063 (GRCm39) probably null Het
Sema3c A G 5: 17,932,630 (GRCm39) D711G probably benign Het
Sgcb T C 5: 73,798,153 (GRCm39) E103G possibly damaging Het
Sh3pxd2a A G 19: 47,255,848 (GRCm39) S957P probably damaging Het
Slc26a2 A G 18: 61,332,489 (GRCm39) V314A possibly damaging Het
Smarca5 G T 8: 81,438,372 (GRCm39) H655N probably damaging Het
Sspo T A 6: 48,442,510 (GRCm39) S2002T probably damaging Het
Sync T C 4: 129,187,544 (GRCm39) L192P probably damaging Het
Ush2a T C 1: 188,090,800 (GRCm39) M477T probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vcam1 A G 3: 115,918,049 (GRCm39) V304A probably damaging Het
Vmn2r115 T A 17: 23,565,003 (GRCm39) W297R probably damaging Het
Vmn2r120 T A 17: 57,832,973 (GRCm39) M69L probably benign Het
Wdr11 A G 7: 129,226,515 (GRCm39) D771G probably damaging Het
Other mutations in Exosc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Exosc9 APN 3 36,607,288 (GRCm39) unclassified probably benign
IGL00949:Exosc9 APN 3 36,617,415 (GRCm39) unclassified probably benign
IGL01718:Exosc9 APN 3 36,608,078 (GRCm39) unclassified probably benign
IGL02072:Exosc9 APN 3 36,608,821 (GRCm39) missense probably damaging 1.00
IGL02217:Exosc9 APN 3 36,606,893 (GRCm39) missense probably damaging 0.99
IGL02439:Exosc9 APN 3 36,607,180 (GRCm39) unclassified probably benign
IGL02871:Exosc9 APN 3 36,619,430 (GRCm39) missense probably benign 0.00
IGL02994:Exosc9 APN 3 36,607,287 (GRCm39) unclassified probably benign
IGL03144:Exosc9 APN 3 36,608,284 (GRCm39) missense probably damaging 1.00
R0909:Exosc9 UTSW 3 36,608,853 (GRCm39) missense probably damaging 1.00
R1192:Exosc9 UTSW 3 36,606,904 (GRCm39) unclassified probably benign
R2516:Exosc9 UTSW 3 36,617,311 (GRCm39) missense probably benign
R4288:Exosc9 UTSW 3 36,617,365 (GRCm39) missense probably benign
R4770:Exosc9 UTSW 3 36,607,984 (GRCm39) missense probably damaging 0.98
R5875:Exosc9 UTSW 3 36,615,342 (GRCm39) critical splice donor site probably null
R5928:Exosc9 UTSW 3 36,609,774 (GRCm39) intron probably benign
R7077:Exosc9 UTSW 3 36,607,205 (GRCm39) missense probably damaging 1.00
R7340:Exosc9 UTSW 3 36,615,297 (GRCm39) missense possibly damaging 0.86
R7443:Exosc9 UTSW 3 36,607,990 (GRCm39) missense probably damaging 1.00
R7917:Exosc9 UTSW 3 36,607,968 (GRCm39) missense probably damaging 0.99
R8735:Exosc9 UTSW 3 36,609,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATTAAAACAGACGTAGGAACCTG -3'
(R):5'- TCTCCTGTCAGCACACGAAG -3'

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