Incidental Mutation 'IGL01718:Exosc9'
ID 105017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc9
Ensembl Gene ENSMUSG00000027714
Gene Name exosome component 9
Synonyms p5, PM/Scl-75, p6, Pmscl1, RRP45
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01718
Quality Score
Status
Chromosome 3
Chromosomal Location 36606755-36619876 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 36608078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000136890] [ENSMUST00000155866]
AlphaFold Q9JHI7
Predicted Effect probably benign
Transcript: ENSMUST00000029269
SMART Domains Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714

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

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 benign
Transcript: ENSMUST00000155866
SMART Domains Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 A G 7: 66,049,953 (GRCm39) F422L possibly damaging Het
Ap2m1 T C 16: 20,360,944 (GRCm39) probably benign Het
Asic1 A G 15: 99,569,883 (GRCm39) Y68C probably damaging Het
Ccdc18 A G 5: 108,349,214 (GRCm39) D1002G possibly damaging Het
Cyp2c29 A T 19: 39,318,704 (GRCm39) I434F possibly damaging Het
Diaph3 T A 14: 86,893,774 (GRCm39) R78S unknown Het
Dnase1l2 T C 17: 24,660,690 (GRCm39) D188G possibly damaging Het
Fgf23 G A 6: 127,057,436 (GRCm39) V251I probably benign Het
Fndc3c1 T C X: 105,489,534 (GRCm39) T296A probably benign Het
Gm5592 A G 7: 40,938,617 (GRCm39) E633G probably damaging Het
Gpr155 T C 2: 73,212,576 (GRCm39) M16V probably benign Het
Jakmip3 T G 7: 138,591,121 (GRCm39) S2A possibly damaging Het
Lrba T A 3: 86,258,555 (GRCm39) N1347K probably damaging Het
Mars1 T C 10: 127,141,707 (GRCm39) R266G possibly damaging Het
Mplkipl1 A G 19: 61,164,199 (GRCm39) S79P probably damaging Het
Mrgpra1 A T 7: 46,985,675 (GRCm39) probably null Het
Or7g20 T A 9: 18,946,584 (GRCm39) L55* probably null Het
Pdzk1ip1 T A 4: 114,950,111 (GRCm39) probably benign Het
Ppid G T 3: 79,500,986 (GRCm39) C52F probably damaging Het
Reln A G 5: 22,152,512 (GRCm39) I2318T possibly damaging Het
Rhpn2 G A 7: 35,070,179 (GRCm39) D146N probably benign Het
Tspoap1 G T 11: 87,671,081 (GRCm39) R1670L possibly damaging Het
Ttc22 G A 4: 106,495,773 (GRCm39) V376M probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Zfp609 G A 9: 65,609,682 (GRCm39) Q1094* probably null Het
Zfp831 C T 2: 174,485,631 (GRCm39) T102I possibly damaging Het
Zglp1 C T 9: 20,974,675 (GRCm39) C171Y probably benign 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
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
R6120:Exosc9 UTSW 3 36,608,821 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-01-21