Incidental Mutation 'R3005:Exosc8'
ID 257408
Institutional Source Beutler Lab
Gene Symbol Exosc8
Ensembl Gene ENSMUSG00000027752
Gene Name exosome component 8
Synonyms 2310032N20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3005 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 54636099-54642469 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 54639568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000153224] [ENSMUST00000153224] [ENSMUST00000154787] [ENSMUST00000155273] [ENSMUST00000141191] [ENSMUST00000197502] [ENSMUST00000199674] [ENSMUST00000200439] [ENSMUST00000200441]
AlphaFold Q9D753
Predicted Effect probably benign
Transcript: ENSMUST00000029315
SMART Domains Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 65 78 N/A INTRINSIC
low complexity region 107 159 N/A INTRINSIC
coiled coil region 201 230 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000029316
SMART Domains Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 166 2.3e-29 PFAM
Pfam:RNase_PH_C 191 258 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044567
SMART Domains Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 63 174 2.1e-10 PFAM
Pfam:Glycos_transf_2 68 250 2.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140935
Predicted Effect probably null
Transcript: ENSMUST00000153224
SMART Domains Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 130 2e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153224
SMART Domains Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 130 2e-16 PFAM
Predicted Effect silent
Transcript: ENSMUST00000154787
SMART Domains Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 19 106 5.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142377
Predicted Effect probably benign
Transcript: ENSMUST00000155273
SMART Domains Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141191
SMART Domains Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197502
SMART Domains Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 62 227 1.9e-43 PFAM
low complexity region 424 440 N/A INTRINSIC
low complexity region 467 476 N/A INTRINSIC
low complexity region 487 501 N/A INTRINSIC
low complexity region 512 532 N/A INTRINSIC
low complexity region 574 587 N/A INTRINSIC
low complexity region 632 680 N/A INTRINSIC
coiled coil region 722 751 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199674
SMART Domains Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 59 227 3.3e-39 PFAM
low complexity region 424 442 N/A INTRINSIC
low complexity region 466 475 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200439
SMART Domains Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 59 227 2.7e-42 PFAM
low complexity region 424 440 N/A INTRINSIC
low complexity region 467 476 N/A INTRINSIC
low complexity region 487 501 N/A INTRINSIC
low complexity region 514 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200441
SMART Domains Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 65 78 N/A INTRINSIC
low complexity region 123 171 N/A INTRINSIC
coiled coil region 213 242 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 C A 9: 87,114,113 (GRCm39) V320L probably benign Het
Cnga1 T A 5: 72,762,450 (GRCm39) I355F probably damaging Het
Csnk1e T C 15: 79,323,005 (GRCm39) I15V probably benign Het
Dele1 T A 18: 38,393,012 (GRCm39) N405K possibly damaging Het
Garre1 T C 7: 33,984,209 (GRCm39) E138G probably damaging Het
Gstm3 G T 3: 107,874,923 (GRCm39) Q110K probably benign Het
Hace1 G A 10: 45,524,959 (GRCm39) G242R probably damaging Het
Lcn6 T A 2: 25,567,261 (GRCm39) probably null Het
Msh6 A G 17: 88,295,713 (GRCm39) E1088G probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Nup50 G A 15: 84,813,661 (GRCm39) probably null Het
Or51g2 C T 7: 102,622,465 (GRCm39) V245I possibly damaging Het
Ppp2r5a A T 1: 191,091,173 (GRCm39) F218Y probably damaging Het
Ptov1 T C 7: 44,513,886 (GRCm39) N52S probably damaging Het
Rif1 G A 2: 51,972,776 (GRCm39) A303T probably damaging Het
Ror1 T A 4: 100,298,961 (GRCm39) V778E probably damaging Het
Tcaf3 A T 6: 42,570,978 (GRCm39) L258H probably damaging Het
Utp20 C A 10: 88,613,317 (GRCm39) K1321N probably damaging Het
Vmn2r54 T A 7: 12,349,221 (GRCm39) Q787L probably benign Het
Other mutations in Exosc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Exosc8 APN 3 54,636,686 (GRCm39) missense probably damaging 0.97
IGL03348:Exosc8 APN 3 54,640,143 (GRCm39) missense possibly damaging 0.91
R1037:Exosc8 UTSW 3 54,640,159 (GRCm39) missense probably damaging 0.98
R1233:Exosc8 UTSW 3 54,639,419 (GRCm39) missense probably benign 0.30
R1623:Exosc8 UTSW 3 54,641,752 (GRCm39) missense probably damaging 0.99
R1647:Exosc8 UTSW 3 54,641,522 (GRCm39) critical splice donor site probably null
R1928:Exosc8 UTSW 3 54,636,266 (GRCm39) missense probably damaging 1.00
R4851:Exosc8 UTSW 3 54,639,523 (GRCm39) unclassified probably benign
R4932:Exosc8 UTSW 3 54,636,711 (GRCm39) missense possibly damaging 0.81
R5010:Exosc8 UTSW 3 54,636,644 (GRCm39) missense probably benign 0.00
R5506:Exosc8 UTSW 3 54,638,600 (GRCm39) unclassified probably benign
R5860:Exosc8 UTSW 3 54,642,463 (GRCm39) unclassified probably benign
R6887:Exosc8 UTSW 3 54,641,120 (GRCm39) missense probably damaging 1.00
R7543:Exosc8 UTSW 3 54,636,669 (GRCm39) missense probably benign 0.28
R9130:Exosc8 UTSW 3 54,638,503 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCTTGCCTGGAGAAATGC -3'
(R):5'- TTTCCATAGGTGGGAAACAGC -3'

Sequencing Primer
(F):5'- CTTGCCTGGAGAAATGCATAAATCC -3'
(R):5'- TTGGATGTGAGCAAAGAGTCTACCC -3'
Posted On 2015-01-11