Incidental Mutation 'IGL02582:Exosc5'
ID 299408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc5
Ensembl Gene ENSMUSG00000061286
Gene Name exosome component 5
Synonyms D7Wsu180e
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02582
Quality Score
Status
Chromosome 7
Chromosomal Location 25358578-25367457 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 25364988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079439] [ENSMUST00000079634] [ENSMUST00000108404] [ENSMUST00000108405] [ENSMUST00000206561] [ENSMUST00000205966] [ENSMUST00000205743]
AlphaFold Q9CRA8
Predicted Effect probably benign
Transcript: ENSMUST00000079439
SMART Domains Protein: ENSMUSP00000078407
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
low complexity region 74 85 N/A INTRINSIC
Pfam:CD225 86 158 2.9e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000079634
SMART Domains Protein: ENSMUSP00000078580
Gene: ENSMUSG00000061286

DomainStartEndE-ValueType
Pfam:RNase_PH 27 147 1.3e-25 PFAM
Pfam:RNase_PH_C 150 216 2.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108404
SMART Domains Protein: ENSMUSP00000104041
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:Dispanin 82 121 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108405
SMART Domains Protein: ENSMUSP00000104042
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:Dispanin 82 134 6.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150306
Predicted Effect probably benign
Transcript: ENSMUST00000150883
SMART Domains Protein: ENSMUSP00000115089
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:CD225 32 68 5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205275
Predicted Effect probably null
Transcript: ENSMUST00000206561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205614
Predicted Effect probably benign
Transcript: ENSMUST00000205966
Predicted Effect probably benign
Transcript: ENSMUST00000205743
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Exosc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Exosc5 APN 7 25,362,622 (GRCm39) missense possibly damaging 0.92
R2267:Exosc5 UTSW 7 25,363,809 (GRCm39) missense possibly damaging 0.89
R5251:Exosc5 UTSW 7 25,367,180 (GRCm39) missense probably damaging 1.00
R7175:Exosc5 UTSW 7 25,363,794 (GRCm39) missense probably damaging 0.96
R7297:Exosc5 UTSW 7 25,365,751 (GRCm39) missense probably benign 0.00
R7448:Exosc5 UTSW 7 25,358,734 (GRCm39) missense probably benign
R8188:Exosc5 UTSW 7 25,358,790 (GRCm39) missense probably damaging 1.00
R8190:Exosc5 UTSW 7 25,365,769 (GRCm39) critical splice donor site probably null
R8922:Exosc5 UTSW 7 25,363,673 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16