Incidental Mutation 'R4161:Exosc3'
ID 321514
Institutional Source Beutler Lab
Gene Symbol Exosc3
Ensembl Gene ENSMUSG00000028322
Gene Name exosome component 3
Synonyms 2310005D06Rik
MMRRC Submission 041004-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R4161 (G1)
Quality Score 215
Status Not validated
Chromosome 4
Chromosomal Location 45316613-45320616 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 45320619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673]
AlphaFold Q7TQK4
Predicted Effect probably benign
Transcript: ENSMUST00000030003
SMART Domains Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322

DomainStartEndE-ValueType
Blast:S1 111 180 4e-36 BLAST
Pfam:KH_6 196 243 3.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044673
SMART Domains Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601

DomainStartEndE-ValueType
low complexity region 76 95 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
Pfam:tRNA_m1G_MT 135 308 2.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143111
Predicted Effect probably benign
Transcript: ENSMUST00000152056
SMART Domains Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322

DomainStartEndE-ValueType
Blast:S1 24 93 8e-38 BLAST
Pfam:KH_6 109 145 8e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (39/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a conditional ready allele appear phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,738,588 (GRCm39) Y321C probably benign Het
Angptl3 T C 4: 98,919,728 (GRCm39) S163P probably damaging Het
Ankle2 T C 5: 110,382,234 (GRCm39) M70T probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Ano8 A T 8: 71,935,281 (GRCm39) I339N probably damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cxcl2 A T 5: 91,051,881 (GRCm39) probably null Het
Fads2b C A 2: 85,348,853 (GRCm39) K86N probably damaging Het
Fat1 G A 8: 45,489,824 (GRCm39) A3579T probably benign Het
Fat4 G A 3: 38,996,958 (GRCm39) V1726I possibly damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Hmgcll1 A T 9: 75,982,198 (GRCm39) probably benign Het
Igkv3-12 T A 6: 70,495,542 (GRCm39) V23E probably benign Het
Irx6 T C 8: 93,402,919 (GRCm39) C95R possibly damaging Het
Kif16b G A 2: 142,549,324 (GRCm39) H1064Y probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Plec T C 15: 76,063,851 (GRCm39) E2141G possibly damaging Het
Pou6f1 A G 15: 100,478,724 (GRCm39) S395P probably damaging Het
Prss12 A T 3: 123,279,176 (GRCm39) K418* probably null Het
Rtn3 G A 19: 7,460,444 (GRCm39) A2V probably benign Het
Rubcnl A G 14: 75,281,898 (GRCm39) T452A possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spred3 A G 7: 28,861,210 (GRCm39) L323P probably damaging Het
Srprb A G 9: 103,078,529 (GRCm39) F67S possibly damaging Het
Tk2 T C 8: 104,965,465 (GRCm39) S101G probably benign Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Trpm7 A G 2: 126,658,751 (GRCm39) L1135P probably damaging Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Usp38 C T 8: 81,719,967 (GRCm39) A421T probably damaging Het
Vcan G T 13: 89,833,277 (GRCm39) N3058K probably damaging Het
Vmn1r221 G A 13: 23,402,176 (GRCm39) noncoding transcript Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zbtb10 T C 3: 9,345,356 (GRCm39) S707P probably damaging Het
Other mutations in Exosc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Exosc3 APN 4 45,317,747 (GRCm39) missense probably damaging 1.00
IGL01860:Exosc3 APN 4 45,319,659 (GRCm39) missense probably benign
IGL02368:Exosc3 APN 4 45,319,671 (GRCm39) missense probably damaging 1.00
IGL02370:Exosc3 APN 4 45,319,671 (GRCm39) missense probably damaging 1.00
R0557:Exosc3 UTSW 4 45,316,957 (GRCm39) missense probably damaging 1.00
R0847:Exosc3 UTSW 4 45,319,695 (GRCm39) missense probably damaging 1.00
R4723:Exosc3 UTSW 4 45,319,642 (GRCm39) missense probably benign 0.01
R5010:Exosc3 UTSW 4 45,317,702 (GRCm39) missense possibly damaging 0.60
R6929:Exosc3 UTSW 4 45,320,482 (GRCm39) missense probably damaging 0.99
R9273:Exosc3 UTSW 4 45,316,969 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-06-12