Incidental Mutation 'IGL02370:Exosc3'
ID 290896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc3
Ensembl Gene ENSMUSG00000028322
Gene Name exosome component 3
Synonyms 2310005D06Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL02370
Quality Score
Status
Chromosome 4
Chromosomal Location 45316613-45320616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45319671 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TQK4
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145756
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign 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
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
R4161:Exosc3 UTSW 4 45,320,619 (GRCm39) intron probably benign
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
Posted On 2015-04-16