Incidental Mutation 'IGL02137:Exosc10'
ID281355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc10
Ensembl Gene ENSMUSG00000017264
Gene Nameexosome component 10
SynonymsPmscl2, PM-Scl, p3, p2, PM/Scl-100, RRP6, p4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02137
Quality Score
Status
Chromosome4
Chromosomal Location148558429-148582401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 148561133 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 123 (R123S)
Ref Sequence ENSEMBL: ENSMUSP00000017408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781] [ENSMUST00000103221]
Predicted Effect probably damaging
Transcript: ENSMUST00000017408
AA Change: R123S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: R123S

DomainStartEndE-ValueType
Pfam:PMC2NT 44 133 2.7e-26 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
low complexity region 745 760 N/A INTRINSIC
coiled coil region 769 800 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000076022
AA Change: R123S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: R123S

DomainStartEndE-ValueType
Pfam:PMC2NT 43 134 5.1e-30 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
low complexity region 720 735 N/A INTRINSIC
coiled coil region 744 775 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097781
AA Change: R123S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: R123S

DomainStartEndE-ValueType
Pfam:PMC2NT 43 134 1.4e-30 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103221
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
low complexity region 179 191 N/A INTRINSIC
low complexity region 277 288 N/A INTRINSIC
low complexity region 774 790 N/A INTRINSIC
DUF3385 854 1024 1.51e-93 SMART
low complexity region 1279 1300 N/A INTRINSIC
Pfam:FAT 1513 1908 2.3e-134 PFAM
Rapamycin_bind 2015 2114 7.94e-61 SMART
PI3Kc 2183 2484 8.84e-121 SMART
FATC 2517 2549 2.11e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173154
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele appear phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik T C 9: 51,086,108 probably benign Het
4930595M18Rik T C X: 81,457,656 D116G probably benign Het
Acp2 G T 2: 91,203,683 G66V probably damaging Het
Adam32 C T 8: 24,872,594 G605D probably damaging Het
Adam4 T C 12: 81,421,103 D248G possibly damaging Het
Adamts15 C A 9: 30,910,660 G494W probably damaging Het
Arfgef1 A T 1: 10,213,113 N190K probably damaging Het
Bach2 C T 4: 32,501,621 probably benign Het
Bloc1s1 T C 10: 128,922,648 probably benign Het
Casz1 G T 4: 148,933,468 A405S possibly damaging Het
Cplx4 T C 18: 65,957,054 D98G probably benign Het
Dync2h1 T C 9: 7,134,349 N1553D probably benign Het
Erich5 G A 15: 34,470,754 C43Y probably damaging Het
Inpp5f T C 7: 128,695,129 V377A probably damaging Het
Lrp1b T C 2: 40,730,688 probably benign Het
Mrps17 G A 5: 129,716,783 V14M probably benign Het
Mtrr G A 13: 68,568,801 S431F possibly damaging Het
Myo5a T C 9: 75,161,535 probably null Het
Nsfl1c T A 2: 151,509,589 I291N probably damaging Het
Ntsr1 T A 2: 180,538,835 probably null Het
Olfr732 T C 14: 50,281,678 T192A probably benign Het
Park7 T C 4: 150,903,831 I102M probably benign Het
Pik3c2a T A 7: 116,350,804 Q1326L probably benign Het
Rapgef3 T C 15: 97,750,144 D693G probably benign Het
Rep15 G A 6: 147,033,347 R228H probably benign Het
Slc25a1 A G 16: 17,927,370 V100A probably benign Het
Slc9a4 T C 1: 40,600,899 F284L possibly damaging Het
Sox10 G T 15: 79,159,193 D52E probably benign Het
St3gal5 C A 6: 72,128,282 T6N probably benign Het
Tbc1d22a A G 15: 86,299,669 D243G probably benign Het
Tll1 T C 8: 64,016,098 Y997C possibly damaging Het
Tmem8b A T 4: 43,689,434 H276L probably benign Het
Tnpo3 T C 6: 29,609,451 Y12C probably damaging Het
Tns3 A T 11: 8,492,578 M595K possibly damaging Het
Trav18 T A 14: 53,831,735 M78K probably benign Het
Uba7 A G 9: 107,979,753 probably benign Het
Vmn1r167 A T 7: 23,505,439 S51T probably damaging Het
Vmn1r83 A T 7: 12,321,834 Y99N probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Exosc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Exosc10 APN 4 148565271 missense probably damaging 1.00
IGL01591:Exosc10 APN 4 148562887 unclassified probably benign
IGL01990:Exosc10 APN 4 148566410 missense possibly damaging 0.83
IGL02186:Exosc10 APN 4 148565298 missense probably damaging 0.96
IGL02412:Exosc10 APN 4 148568392 missense probably benign 0.15
IGL02880:Exosc10 APN 4 148576183 missense probably damaging 1.00
R0172:Exosc10 UTSW 4 148565357 missense probably benign 0.02
R0267:Exosc10 UTSW 4 148562756 missense probably damaging 1.00
R0592:Exosc10 UTSW 4 148581113 missense probably benign
R1122:Exosc10 UTSW 4 148566364 missense possibly damaging 0.86
R1218:Exosc10 UTSW 4 148570401 missense probably damaging 1.00
R1498:Exosc10 UTSW 4 148581786 missense possibly damaging 0.66
R1591:Exosc10 UTSW 4 148568383 missense probably benign 0.04
R1719:Exosc10 UTSW 4 148568503 missense probably damaging 1.00
R1760:Exosc10 UTSW 4 148578469 nonsense probably null
R3727:Exosc10 UTSW 4 148565277 missense probably damaging 1.00
R3842:Exosc10 UTSW 4 148563865 nonsense probably null
R3876:Exosc10 UTSW 4 148572919 missense probably benign 0.00
R4476:Exosc10 UTSW 4 148565324 missense probably damaging 0.98
R4750:Exosc10 UTSW 4 148562394 missense possibly damaging 0.69
R5306:Exosc10 UTSW 4 148562392 missense probably benign 0.13
R5438:Exosc10 UTSW 4 148566342 nonsense probably null
R5835:Exosc10 UTSW 4 148565387 missense probably damaging 1.00
R5925:Exosc10 UTSW 4 148573362 missense probably benign 0.01
R6116:Exosc10 UTSW 4 148573353 missense probably benign 0.08
R6217:Exosc10 UTSW 4 148582311 splice site probably null
R6365:Exosc10 UTSW 4 148561105 missense probably benign 0.13
R6495:Exosc10 UTSW 4 148562872 missense probably benign 0.45
R6498:Exosc10 UTSW 4 148573338 missense probably benign
R6772:Exosc10 UTSW 4 148581134 missense probably damaging 1.00
R7297:Exosc10 UTSW 4 148580377 missense probably damaging 1.00
R7523:Exosc10 UTSW 4 148563842 critical splice acceptor site probably null
R7698:Exosc10 UTSW 4 148558498 missense probably benign
R7967:Exosc10 UTSW 4 148564664 missense probably damaging 1.00
R8225:Exosc10 UTSW 4 148565204 missense possibly damaging 0.86
R8477:Exosc10 UTSW 4 148565390 missense possibly damaging 0.71
R8510:Exosc10 UTSW 4 148564189 missense probably damaging 1.00
Z1177:Exosc10 UTSW 4 148565386 missense probably damaging 1.00
Posted On2015-04-16