Incidental Mutation 'IGL02368:Exosc3'
ID290814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc3
Ensembl Gene ENSMUSG00000028322
Gene Nameexosome component 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL02368
Quality Score
Status
Chromosome4
Chromosomal Location45316613-45342732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45319671 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 117 (I117T)
Ref Sequence ENSEMBL: ENSMUSP00000030003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673] [ENSMUST00000107800]
Predicted Effect probably damaging
Transcript: ENSMUST00000030003
AA Change: I117T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
AA Change: I117T

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 probably benign
Transcript: ENSMUST00000107800
SMART Domains Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601

DomainStartEndE-ValueType
low complexity region 76 95 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
Pfam:tRNA_m1G_MT 133 306 1.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145756
Predicted Effect unknown
Transcript: ENSMUST00000152056
AA Change: I29T
SMART Domains Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
AA Change: I29T

DomainStartEndE-ValueType
Blast:S1 24 93 8e-38 BLAST
Pfam:KH_6 109 145 8e-13 PFAM
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A G 18: 68,949,989 probably benign Het
Abca17 C A 17: 24,287,793 V1196L probably benign Het
Aldh4a1 G A 4: 139,648,200 W540* probably null Het
Antxr2 G A 5: 97,949,198 P352L probably damaging Het
Atic C T 1: 71,564,565 probably benign Het
Cfhr1 A G 1: 139,547,813 probably benign Het
Clspn T C 4: 126,566,107 S207P probably benign Het
Depdc1b A C 13: 108,363,579 T209P probably benign Het
Eya2 T A 2: 165,763,718 D347E probably damaging Het
Gm10748 G T 3: 5,215,001 probably benign Het
Gm17079 T C 14: 51,693,067 N107S possibly damaging Het
Gpr68 A G 12: 100,878,767 F173L probably damaging Het
Hgf G T 5: 16,564,794 V89F possibly damaging Het
Igsf10 A T 3: 59,328,231 S1510T probably benign Het
Il4 A T 11: 53,612,636 N22K probably damaging Het
Izumo2 T G 7: 44,708,837 L32R probably damaging Het
Mark2 A G 19: 7,284,490 L359P probably damaging Het
Myo15b A G 11: 115,877,002 K1376R probably benign Het
Ncam1 G A 9: 49,543,083 R543* probably null Het
Pax2 A G 19: 44,835,409 N347S possibly damaging Het
Ppargc1a A G 5: 51,474,156 L377P probably benign Het
Pum3 A G 19: 27,425,957 V48A probably benign Het
Rad1 T C 15: 10,493,251 Y255H probably benign Het
Rimbp2 C T 5: 128,788,154 probably null Het
Rpn2 A G 2: 157,302,408 N330S probably benign Het
Rptn A G 3: 93,397,171 S604G probably benign Het
Rragc A G 4: 123,921,111 D200G probably benign Het
Slco4a1 T G 2: 180,473,128 F615V probably damaging Het
Snx2 T C 18: 53,189,721 S59P probably benign Het
Timp4 A T 6: 115,246,399 probably null Het
Tln2 A G 9: 67,240,810 probably benign Het
Txnrd1 C A 10: 82,895,974 probably null 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
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
R4161:Exosc3 UTSW 4 45320619 intron probably benign
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
Posted On2015-04-16