Incidental Mutation 'R4770:Exosc9'
ID 367386
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 042410-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4770 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36606755-36619876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36607984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
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: V64A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: V64A

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
AA Change: V64A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: V64A

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 0.1138 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 93% (89/96)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,962,341 (GRCm39) V503A possibly damaging Het
Agps T A 2: 75,722,199 (GRCm39) F463Y possibly damaging Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Amigo3 A T 9: 107,930,734 (GRCm39) L52F probably damaging Het
Anapc1 T C 2: 128,527,980 (GRCm39) probably benign Het
Ankrd36 G T 11: 5,540,870 (GRCm39) C312F possibly damaging Het
Asic2 A C 11: 80,862,318 (GRCm39) D226E probably benign Het
Atp8b2 T A 3: 89,864,374 (GRCm39) Q197L probably damaging Het
C2cd3 A G 7: 100,092,642 (GRCm39) Y495C probably damaging Het
Ccdc51 A G 9: 108,919,978 (GRCm39) T125A probably benign Het
Ccser1 A G 6: 61,288,485 (GRCm39) Y216C possibly damaging Het
Cimap1b A G 15: 89,263,326 (GRCm39) I19T probably damaging Het
Cntfr A T 4: 41,663,282 (GRCm39) I175N possibly damaging Het
Cox10 G A 11: 63,854,989 (GRCm39) R431W probably benign Het
Cubn T C 2: 13,319,578 (GRCm39) T2881A possibly damaging Het
Cyp2d9 T A 15: 82,336,774 (GRCm39) V41E probably damaging Het
Dmrtb1 C T 4: 107,540,986 (GRCm39) G125D probably benign Het
Dscaml1 C T 9: 45,581,404 (GRCm39) R408C probably damaging Het
Duox2 A T 2: 122,115,397 (GRCm39) S1052T probably benign Het
Ecm1 A G 3: 95,645,273 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Epb41l1 T A 2: 156,371,344 (GRCm39) M727K probably benign Het
Ezh2 A T 6: 47,517,630 (GRCm39) I564N probably damaging Het
Fam89b C A 19: 5,779,482 (GRCm39) R25L probably damaging Het
Fgr C T 4: 132,714,602 (GRCm39) T98M probably damaging Het
Fhip2b T A 14: 70,825,727 (GRCm39) D351V probably damaging Het
Gapvd1 A G 2: 34,581,193 (GRCm39) S1089P probably damaging Het
Gbp5 A T 3: 142,213,837 (GRCm39) I544F possibly damaging Het
Gli2 C A 1: 118,910,318 (GRCm39) probably benign Het
Gm9934 A G 7: 92,702,192 (GRCm39) noncoding transcript Het
Greb1 A T 12: 16,731,357 (GRCm39) D1660E probably benign Het
Gtf2i T A 5: 134,272,414 (GRCm39) N750I possibly damaging Het
H2-DMb2 G C 17: 34,367,698 (GRCm39) D171H probably damaging Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Itga2b A G 11: 102,351,582 (GRCm39) F581S probably damaging Het
Itsn2 T A 12: 4,677,892 (GRCm39) M83K probably damaging Het
Kif27 G A 13: 58,492,191 (GRCm39) T316M probably damaging Het
Lad1 A T 1: 135,753,531 (GRCm39) Q26L probably damaging Het
Lrrn3 T A 12: 41,502,442 (GRCm39) H625L probably benign Het
Mast1 A G 8: 85,655,875 (GRCm39) V155A probably benign Het
Mast3 G A 8: 71,238,864 (GRCm39) T480M probably damaging Het
Mpc1 C T 17: 8,512,377 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,457,380 (GRCm39) M1606L probably benign Het
Myo1c T A 11: 75,551,139 (GRCm39) L238* probably null Het
Nanog T G 6: 122,688,550 (GRCm39) S44A possibly damaging Het
Neb T C 2: 52,039,165 (GRCm39) Q6958R probably benign Het
Ngef C T 1: 87,405,283 (GRCm39) R709H probably damaging Het
Nr1d1 A G 11: 98,661,471 (GRCm39) V265A probably benign Het
Nr3c2 A G 8: 77,634,872 (GRCm39) probably null Het
Olfm5 A G 7: 103,809,685 (GRCm39) S164P probably benign Het
Parvb T C 15: 84,188,106 (GRCm39) probably null Het
Pde4dip G T 3: 97,674,400 (GRCm39) A172D probably damaging Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pik3r6 T A 11: 68,420,720 (GRCm39) V155E probably damaging Het
Pinx1 T G 14: 64,109,820 (GRCm39) V124G probably damaging Het
Poglut1 A G 16: 38,355,119 (GRCm39) Y236H probably damaging Het
Pou4f2 T A 8: 79,163,030 (GRCm39) M2L unknown Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Pramel26 C T 4: 143,538,519 (GRCm39) E151K probably damaging Het
Prkaca A G 8: 84,717,499 (GRCm39) N209S probably benign Het
Ring1 G A 17: 34,242,361 (GRCm39) P49S probably damaging Het
Rnf20 T A 4: 49,633,412 (GRCm39) probably null Het
Rnf25 G A 1: 74,633,099 (GRCm39) R418C probably damaging Het
Ryr1 G T 7: 28,808,707 (GRCm39) P462Q probably damaging Het
Serpinb3d A G 1: 107,006,008 (GRCm39) F360S probably damaging Het
Setd7 T C 3: 51,428,843 (GRCm39) E329G probably damaging Het
Slco2b1 C T 7: 99,320,156 (GRCm39) probably null Het
Snap91 G A 9: 86,655,654 (GRCm39) T844I possibly damaging Het
Snhg5 C T 9: 88,404,424 (GRCm39) noncoding transcript Het
Son T A 16: 91,455,756 (GRCm39) V1501E probably damaging Het
Syncrip T A 9: 88,361,905 (GRCm39) E70V probably damaging Het
Tas2r125 A G 6: 132,886,750 (GRCm39) D46G probably damaging Het
Tmem115 G A 9: 107,412,156 (GRCm39) R160Q probably benign Het
Trerf1 G A 17: 47,630,581 (GRCm39) noncoding transcript Het
Tut7 A G 13: 59,920,698 (GRCm39) probably benign Het
Uggt2 A T 14: 119,266,466 (GRCm39) probably null Het
Ush2a G T 1: 188,282,076 (GRCm39) V1864F probably benign Het
Xkr4 A T 1: 3,286,714 (GRCm39) V492D probably damaging Het
Zfp646 T A 7: 127,482,649 (GRCm39) S1609T possibly damaging Het
Zfp65 A T 13: 67,856,477 (GRCm39) H277Q probably damaging Het
Zfp69 A G 4: 120,791,614 (GRCm39) S176P probably damaging Het
Zfp747 C T 7: 126,974,971 (GRCm39) A10T probably damaging Het
Zfp850 T C 7: 27,684,411 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCTGGGTCCAGTTTACCAC -3'
(R):5'- ATCTGACTGCCTATGGAAAGAAG -3'

Sequencing Primer
(F):5'- GGGTCCAGTTTACCACATTCTATATG -3'
(R):5'- TGTGATAAACTTCGACTGTGAGC -3'
Posted On 2015-12-29