Incidental Mutation 'IGL02217:Exosc9'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc9
Ensembl Gene ENSMUSG00000027714
Gene Nameexosome component 9
SynonymsRRP45, PM/Scl-75, p6, p5, Pmscl1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.975) question?
Stock #IGL02217
Quality Score
Chromosomal Location36552606-36565727 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36552744 bp
Amino Acid Change Glutamic Acid to Glycine at position 20 (E20G)
Ref Sequence ENSEMBL: ENSMUSP00000029269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000136890] [ENSMUST00000155866]
Predicted Effect probably damaging
Transcript: ENSMUST00000029269
AA Change: E20G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: E20G

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 benign
Transcript: ENSMUST00000136890
SMART Domains Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714

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 possibly damaging
Transcript: ENSMUST00000155866
AA Change: E20G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: E20G

Pfam:RNase_PH 31 163 2.6e-25 PFAM
Pfam:RNase_PH_C 189 241 1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156100
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Exosc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Exosc9 APN 3 36553139 unclassified probably benign
IGL00949:Exosc9 APN 3 36563266 unclassified probably benign
IGL01718:Exosc9 APN 3 36553929 unclassified probably benign
IGL02072:Exosc9 APN 3 36554672 missense probably damaging 1.00
IGL02439:Exosc9 APN 3 36553031 unclassified probably benign
IGL02871:Exosc9 APN 3 36565281 missense probably benign 0.00
IGL02994:Exosc9 APN 3 36553138 unclassified probably benign
IGL03144:Exosc9 APN 3 36554135 missense probably damaging 1.00
R0909:Exosc9 UTSW 3 36554704 missense probably damaging 1.00
R1192:Exosc9 UTSW 3 36552755 unclassified probably benign
R2516:Exosc9 UTSW 3 36563162 missense probably benign
R4288:Exosc9 UTSW 3 36563216 missense probably benign
R4770:Exosc9 UTSW 3 36553835 missense probably damaging 0.98
R5875:Exosc9 UTSW 3 36561193 critical splice donor site probably null
R5928:Exosc9 UTSW 3 36555625 intron probably benign
R6120:Exosc9 UTSW 3 36554672 missense probably damaging 1.00
Posted On2015-04-16