Incidental Mutation 'R0931:Exosc1'
ID 80929
Institutional Source Beutler Lab
Gene Symbol Exosc1
Ensembl Gene ENSMUSG00000034321
Gene Name exosome component 1
Synonyms 2610312F07Rik, 2610035C18Rik, 2610104C07Rik
MMRRC Submission 039075-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R0931 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41911417-41921836 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 41921676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000075280] [ENSMUST00000112123] [ENSMUST00000224258] [ENSMUST00000224562] [ENSMUST00000224896] [ENSMUST00000225968]
AlphaFold Q9DAA6
Predicted Effect probably benign
Transcript: ENSMUST00000026154
SMART Domains Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157

DomainStartEndE-ValueType
low complexity region 7 35 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
Pfam:zf-DHHC 151 289 1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075280
SMART Domains Protein: ENSMUSP00000074756
Gene: ENSMUSG00000034321

DomainStartEndE-ValueType
Pfam:ECR1_N 8 44 3.8e-12 PFAM
S1 66 147 3.75e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112123
SMART Domains Protein: ENSMUSP00000107751
Gene: ENSMUSG00000034321

DomainStartEndE-ValueType
Pfam:ECR1_N 7 41 3.9e-14 PFAM
Pfam:EXOSC1 64 94 7.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224258
Predicted Effect probably benign
Transcript: ENSMUST00000224537
Predicted Effect probably benign
Transcript: ENSMUST00000224562
Predicted Effect probably benign
Transcript: ENSMUST00000224896
Predicted Effect probably benign
Transcript: ENSMUST00000225968
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,168,084 (GRCm39) A476T probably benign Het
Ajm1 T C 2: 25,468,501 (GRCm39) E470G possibly damaging Het
Aknad1 T C 3: 108,659,339 (GRCm39) S118P probably damaging Het
Arhgap20 A G 9: 51,728,041 (GRCm39) T85A probably benign Het
Astn2 A G 4: 65,566,530 (GRCm39) L824P probably damaging Het
Ccr1 C A 9: 123,763,827 (GRCm39) K234N probably damaging Het
Cfap46 T C 7: 139,235,757 (GRCm39) R203G probably damaging Het
Col8a1 A G 16: 57,448,931 (GRCm39) I193T unknown Het
Cpa2 T C 6: 30,552,070 (GRCm39) probably benign Het
Crabp1 T C 9: 54,675,717 (GRCm39) L100P possibly damaging Het
Cspp1 A T 1: 10,174,511 (GRCm39) R655W probably damaging Het
Ddx1 A T 12: 13,287,818 (GRCm39) probably benign Het
Dnah7b T G 1: 46,138,772 (GRCm39) probably benign Het
Dzip3 A G 16: 48,771,921 (GRCm39) S583P probably damaging Het
Fhip1a A G 3: 85,580,550 (GRCm39) S552P probably benign Het
Gas7 A T 11: 67,543,751 (GRCm39) probably benign Het
Gss A T 2: 155,409,609 (GRCm39) probably benign Het
Hdhd3 G A 4: 62,417,757 (GRCm39) R140* probably null Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kcnf1 T C 12: 17,225,142 (GRCm39) S360G possibly damaging Het
Klk1b4 T C 7: 43,860,480 (GRCm39) L166P probably damaging Het
Klri1 A T 6: 129,674,381 (GRCm39) probably benign Het
Mettl27 T C 5: 134,963,285 (GRCm39) probably benign Het
Myrfl T A 10: 116,675,354 (GRCm39) H193L probably benign Het
Nbas C T 12: 13,381,115 (GRCm39) probably benign Het
Or10ac1 C A 6: 42,515,020 (GRCm39) R312L probably benign Het
Or52b2 A T 7: 104,986,736 (GRCm39) Y62* probably null Het
Papolg A G 11: 23,832,257 (GRCm39) I177T probably damaging Het
Pdcd1 A G 1: 93,967,238 (GRCm39) V220A probably benign Het
Psmc1 T C 12: 100,085,341 (GRCm39) L234P probably damaging Het
Rasa2 A T 9: 96,434,457 (GRCm39) M610K possibly damaging Het
Ryr3 A G 2: 112,484,047 (GRCm39) F3930S probably damaging Het
Sacs G A 14: 61,440,944 (GRCm39) V997I probably benign Het
Setdb2 A G 14: 59,660,945 (GRCm39) probably benign Het
Ssu2 C A 6: 112,361,359 (GRCm39) L32F probably damaging Het
Taar1 A T 10: 23,797,181 (GRCm39) N293I probably damaging Het
Ttn A G 2: 76,611,846 (GRCm39) probably benign Het
Vmn2r49 T C 7: 9,720,325 (GRCm39) M389V possibly damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Zfp324 A G 7: 12,700,185 (GRCm39) I15V probably benign Het
Other mutations in Exosc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1471:Exosc1 UTSW 19 41,913,157 (GRCm39) missense probably damaging 1.00
R1791:Exosc1 UTSW 19 41,916,524 (GRCm39) missense probably benign 0.30
R2265:Exosc1 UTSW 19 41,919,857 (GRCm39) missense probably damaging 0.99
R4845:Exosc1 UTSW 19 41,919,797 (GRCm39) missense possibly damaging 0.87
R5321:Exosc1 UTSW 19 41,912,499 (GRCm39) nonsense probably null
R5525:Exosc1 UTSW 19 41,912,457 (GRCm39) missense probably damaging 1.00
R5875:Exosc1 UTSW 19 41,916,542 (GRCm39) missense probably damaging 1.00
R6172:Exosc1 UTSW 19 41,912,442 (GRCm39) missense probably damaging 1.00
R7695:Exosc1 UTSW 19 41,916,519 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GCGACGAAAAGATGTAGCCATGCC -3'
(R):5'- TGCCAGCTTCTCAATCAGCCAG -3'

Sequencing Primer
(F):5'- TAGCCATGCCGGGTGTAG -3'
(R):5'- GCTTCTCAATCAGCCAGATTAGG -3'
Posted On 2013-11-07