Incidental Mutation 'R4161:Exosc3'
ID321514
Institutional Source Beutler Lab
Gene Symbol Exosc3
Ensembl Gene ENSMUSG00000028322
Gene Nameexosome component 3
Synonyms
MMRRC Submission 041004-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #R4161 (G1)
Quality Score215
Status Not validated
Chromosome4
Chromosomal Location45316613-45342732 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 45320619 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673]
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
4833423E24Rik C A 2: 85,518,509 K86N probably damaging Het
4921501E09Rik G A 17: 33,066,049 T593I probably benign Het
Ackr2 A G 9: 121,909,522 Y321C probably benign Het
Angptl3 T C 4: 99,031,491 S163P probably damaging Het
Ankle2 T C 5: 110,234,368 M70T probably benign Het
Ankrd1 T A 19: 36,117,873 K138N probably damaging Het
Ano8 A T 8: 71,482,637 I339N probably damaging Het
Cxcl2 A T 5: 90,904,022 probably null Het
Fat1 G A 8: 45,036,787 A3579T probably benign Het
Fat4 G A 3: 38,942,809 V1726I possibly damaging Het
Gm5724 T C 6: 141,708,596 K647E probably benign Het
Grm7 A G 6: 111,254,020 N468S probably damaging Het
Hmgcll1 A T 9: 76,074,916 probably benign Het
Igkv3-12 T A 6: 70,518,558 V23E probably benign Het
Irx6 T C 8: 92,676,291 C95R possibly damaging Het
Kif16b G A 2: 142,707,404 H1064Y probably benign Het
Lrrc45 A T 11: 120,718,446 D377V possibly damaging Het
Oasl1 A G 5: 114,937,014 K378E possibly damaging Het
Pds5a T C 5: 65,664,496 T120A possibly damaging Het
Plec T C 15: 76,179,651 E2141G possibly damaging Het
Pou6f1 A G 15: 100,580,843 S395P probably damaging Het
Prss12 A T 3: 123,485,527 K418* probably null Het
Rtn3 G A 19: 7,483,079 A2V probably benign Het
Rubcnl A G 14: 75,044,458 T452A possibly damaging Het
Sdk1 A G 5: 142,114,399 I1395V probably benign Het
Senp7 C A 16: 56,153,469 P351Q possibly damaging Het
Spred3 A G 7: 29,161,785 L323P probably damaging Het
Srprb A G 9: 103,201,330 F67S possibly damaging Het
Tk2 T C 8: 104,238,833 S101G probably benign Het
Tnxb A G 17: 34,711,517 T2059A probably damaging Het
Trpm7 A G 2: 126,816,831 L1135P probably damaging Het
Uhrf1bp1 A G 17: 27,884,087 Y365C probably damaging Het
Ush2a G A 1: 188,728,710 V2723M probably damaging Het
Usp38 C T 8: 80,993,338 A421T probably damaging Het
Vcan G T 13: 89,685,158 N3058K probably damaging Het
Vmn1r221 G A 13: 23,218,006 noncoding transcript Het
Vps11 C G 9: 44,355,720 G406A probably damaging Het
Wnk2 C T 13: 49,090,837 D508N probably damaging Het
Zbtb10 T C 3: 9,280,296 S707P probably damaging Het
Other mutations in Exosc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Exosc3 APN 4 45317747 missense probably damaging 1.00
IGL01860:Exosc3 APN 4 45319659 missense probably benign
IGL02368:Exosc3 APN 4 45319671 missense probably damaging 1.00
IGL02370:Exosc3 APN 4 45319671 missense probably damaging 1.00
R0557:Exosc3 UTSW 4 45316957 missense probably damaging 1.00
R0847:Exosc3 UTSW 4 45319695 missense probably damaging 1.00
R4723:Exosc3 UTSW 4 45319642 missense probably benign 0.01
R5010:Exosc3 UTSW 4 45317702 missense possibly damaging 0.60
R6929:Exosc3 UTSW 4 45320482 missense probably damaging 0.99
Predicted Primers
Posted On2015-06-12