Incidental Mutation 'R9298:Exosc6'
ID 704736
Institutional Source Beutler Lab
Gene Symbol Exosc6
Ensembl Gene ENSMUSG00000109941
Gene Name exosome component 6
Synonyms Mtr3, 2610510N21Rik
MMRRC Submission 068963-MU
Accession Numbers
Essential gene? Not available question?
Stock # R9298 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 111782971-111784296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111783513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 171 (A171T)
Ref Sequence ENSEMBL: ENSMUSP00000147696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469] [ENSMUST00000210390]
AlphaFold Q8BTW3
Predicted Effect probably benign
Transcript: ENSMUST00000034441
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 9 597 9.2e-228 PFAM
tRNA_SAD 694 753 5.97e-18 SMART
Pfam:DHHA1 885 957 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190778
SMART Domains Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191030
SMART Domains Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
SCP 100 248 5.76e-19 SMART
EGF 282 319 5.32e-1 SMART
EGF_like 321 350 4.83e1 SMART
CLECT 355 491 4.65e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191469
SMART Domains Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210390
AA Change: A171T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,198,923 (GRCm39) A110D probably benign Het
4930407I10Rik A G 15: 81,947,615 (GRCm39) E504G probably benign Het
Apbb2 T C 5: 66,609,018 (GRCm39) K210E probably benign Het
Arhgef37 G T 18: 61,651,072 (GRCm39) A151D probably damaging Het
Btaf1 A G 19: 36,964,114 (GRCm39) Y895C probably benign Het
Catsperb A G 12: 101,560,600 (GRCm39) I864V possibly damaging Het
Cdhr17 T A 5: 16,996,855 (GRCm39) C10* probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Col18a1 G A 10: 76,893,204 (GRCm39) T1057M probably damaging Het
Col1a2 T A 6: 4,515,260 (GRCm39) probably null Het
Col6a4 A G 9: 105,945,534 (GRCm39) I860T probably damaging Het
Csmd3 A C 15: 47,617,187 (GRCm39) H1000Q Het
Cyp4a29 T A 4: 115,108,395 (GRCm39) M373K probably damaging Het
Dnhd1 A G 7: 105,333,173 (GRCm39) E215G probably damaging Het
Dop1b A G 16: 93,597,087 (GRCm39) E1972G probably damaging Het
Dusp19 T C 2: 80,447,729 (GRCm39) M1T probably null Het
Eif4b A G 15: 101,990,449 (GRCm39) T18A possibly damaging Het
Fau G A 19: 6,108,297 (GRCm39) R6H probably benign Het
Flrt3 T C 2: 140,501,879 (GRCm39) D583G probably damaging Het
Fpgt A T 3: 154,792,695 (GRCm39) L444* probably null Het
Gm10226 A G 17: 21,910,768 (GRCm39) E1G probably null Het
Gm14443 A T 2: 175,011,869 (GRCm39) C192* probably null Het
Gm4353 T A 7: 115,682,843 (GRCm39) N246I probably benign Het
Igfn1 A G 1: 135,926,327 (GRCm39) L41P probably benign Het
Iigp1 T G 18: 60,523,063 (GRCm39) D60E probably benign Het
Kcnt2 T A 1: 140,353,035 (GRCm39) V248D probably damaging Het
Kctd14 A G 7: 97,107,243 (GRCm39) K166R probably benign Het
Kdm4d G A 9: 14,375,336 (GRCm39) T174M probably damaging Het
Kdm5b T C 1: 134,528,493 (GRCm39) probably null Het
Maz CGCGGCCTCGGCGGCTGGTGCGG CGCGG 7: 126,625,075 (GRCm39) probably benign Het
Mrtfb A G 16: 13,202,082 (GRCm39) Q115R probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Or10a5 A T 7: 106,635,640 (GRCm39) I93F probably damaging Het
Or2h1b A T 17: 37,462,572 (GRCm39) V97D probably damaging Het
Or5b95 T A 19: 12,658,190 (GRCm39) C239* probably null Het
Pigc C T 1: 161,798,032 (GRCm39) R5C probably benign Het
Plekhm2 C A 4: 141,356,829 (GRCm39) M771I probably benign Het
Runx1 T A 16: 92,441,147 (GRCm39) T221S possibly damaging Het
S100pbp A G 4: 129,044,847 (GRCm39) Y363H probably damaging Het
Sema5a A G 15: 32,619,040 (GRCm39) T523A probably benign Het
Slc38a8 A G 8: 120,212,851 (GRCm39) F270S possibly damaging Het
Slc4a1ap T C 5: 31,693,538 (GRCm39) S491P probably damaging Het
Slc66a2 T C 18: 80,300,300 (GRCm39) L57P probably damaging Het
Slc7a6 T C 8: 106,922,534 (GRCm39) V440A probably damaging Het
Sobp A T 10: 42,898,902 (GRCm39) C228S probably damaging Het
Svop G A 5: 114,168,231 (GRCm39) T456M probably benign Het
Synrg A G 11: 83,900,278 (GRCm39) D750G probably damaging Het
Syt14 C A 1: 192,612,944 (GRCm39) E336* probably null Het
Tcp11l1 C T 2: 104,528,897 (GRCm39) V134I possibly damaging Het
Tex51 T C 18: 32,594,029 (GRCm39) R110G possibly damaging Het
Tle3 T A 9: 61,319,562 (GRCm39) H443Q possibly damaging Het
Unc13a C T 8: 72,108,335 (GRCm39) R506Q possibly damaging Het
Vmn1r121 A C 7: 20,832,344 (GRCm39) V32G probably damaging Het
Wiz A G 17: 32,580,714 (GRCm39) F246L probably benign Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown Het
Zfp709 A T 8: 72,644,648 (GRCm39) E692D possibly damaging Het
Zglp1 A T 9: 20,977,482 (GRCm39) L111Q probably benign Het
Other mutations in Exosc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8872:Exosc6 UTSW 8 111,783,784 (GRCm39) missense probably damaging 1.00
R9109:Exosc6 UTSW 8 111,783,513 (GRCm39) missense probably damaging 1.00
R9221:Exosc6 UTSW 8 111,783,028 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTTAAGCGAGCGGAAGAGC -3'
(R):5'- TCGGTCCAACTCTCAGTCTG -3'

Sequencing Primer
(F):5'- GACCAAGGTGCTGTGCG -3'
(R):5'- AACTCTCAGTCTGCCCGC -3'
Posted On 2022-03-25