Incidental Mutation 'R6929:Exosc3'
ID 539891
Institutional Source Beutler Lab
Gene Symbol Exosc3
Ensembl Gene ENSMUSG00000028322
Gene Name exosome component 3
Synonyms 2310005D06Rik
MMRRC Submission 045007-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6929 (G1)
Quality Score 154.008
Status Validated
Chromosome 4
Chromosomal Location 45316613-45320616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45320482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 37 (P37Q)
Ref Sequence ENSEMBL: ENSMUSP00000030003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673]
AlphaFold Q7TQK4
Predicted Effect probably damaging
Transcript: ENSMUST00000030003
AA Change: P37Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
AA Change: P37Q

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: 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,896,275 (GRCm39) R1223* probably null Het
Adgrb3 A T 1: 25,150,852 (GRCm39) L1127* probably null Het
Ankrd17 A T 5: 90,433,384 (GRCm39) V727D possibly damaging Het
Ankub1 A T 3: 57,572,854 (GRCm39) C289* probably null Het
C2 T A 17: 35,083,323 (GRCm39) I242F possibly damaging Het
C2cd3 T C 7: 100,100,826 (GRCm39) L653P probably damaging Het
Cacna1b A G 2: 24,522,022 (GRCm39) V1696A probably damaging Het
Cep295 A G 9: 15,244,358 (GRCm39) I1366T probably damaging Het
Chd9 T C 8: 91,769,573 (GRCm39) L2553P probably damaging Het
Cited4 C A 4: 120,524,244 (GRCm39) T82K probably benign Het
Dnah6 A T 6: 73,021,756 (GRCm39) M3470K probably damaging Het
Fam120b C A 17: 15,643,290 (GRCm39) Q690K possibly damaging Het
Fyb1 T C 15: 6,668,388 (GRCm39) I527T probably damaging Het
Gm32742 A G 9: 51,065,579 (GRCm39) L459P probably benign Het
Gm45861 A G 8: 28,014,462 (GRCm39) D655G unknown Het
Ifi203 A G 1: 173,756,340 (GRCm39) probably benign Het
Ifnar2 T A 16: 91,190,766 (GRCm39) L93* probably null Het
Kdr A G 5: 76,138,764 (GRCm39) V22A probably benign Het
Llgl1 C T 11: 60,601,179 (GRCm39) Q706* probably null Het
Lrrc9 A T 12: 72,497,546 (GRCm39) K121N probably benign Het
Lyst T C 13: 13,917,909 (GRCm39) F3323S probably damaging Het
Mc4r A G 18: 66,992,253 (GRCm39) Y287H probably damaging Het
Nlrp4e A C 7: 23,036,156 (GRCm39) probably null Het
Or52z12 A T 7: 103,233,651 (GRCm39) I141F probably damaging Het
Or8b42 A G 9: 38,342,444 (GRCm39) I289V probably benign Het
Pear1 T A 3: 87,666,872 (GRCm39) K38* probably null Het
Pik3c2g G A 6: 139,903,502 (GRCm39) R585Q possibly damaging Het
Prpf40a A G 2: 53,034,875 (GRCm39) V771A possibly damaging Het
Rnd3 G T 2: 51,027,187 (GRCm39) D103E probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Spats2l A T 1: 57,918,695 (GRCm39) N43I probably damaging Het
Tmem202 C A 9: 59,426,504 (GRCm39) G221C probably benign Het
Ubiad1 T C 4: 148,528,579 (GRCm39) D110G probably damaging Het
Ulk4 A T 9: 120,903,081 (GRCm39) V1132D probably benign Het
Vmn2r118 C T 17: 55,917,440 (GRCm39) M357I probably benign Het
Zfp663 G C 2: 165,195,178 (GRCm39) P347R 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
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
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
R9273:Exosc3 UTSW 4 45,316,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGAGTCCACCCAGTAAAC -3'
(R):5'- AGTATCTCCCAAGCTCAAGTCC -3'

Sequencing Primer
(F):5'- CCCAGTAAACGCCGCCG -3'
(R):5'- CACCGGAAAGAGATGACCCTG -3'
Posted On 2018-11-06