Incidental Mutation 'IGL01400:Exosc10'
ID79615
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 #IGL01400
Quality Score
Status
Chromosome4
Chromosomal Location148558429-148582401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 148565271 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 386 (M386R)
Ref Sequence ENSEMBL: ENSMUSP00000017408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781]
Predicted Effect probably damaging
Transcript: ENSMUST00000017408
AA Change: M386R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: M386R

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 probably damaging
Transcript: ENSMUST00000076022
AA Change: M386R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: M386R

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 probably damaging
Transcript: ENSMUST00000097781
AA Change: M386R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: M386R

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 noncoding transcript
Transcript: ENSMUST00000120110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126897
Predicted Effect probably benign
Transcript: ENSMUST00000150723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173767
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,101 I133N probably damaging Het
Abl2 T G 1: 156,635,184 C510G probably damaging Het
Ambp T C 4: 63,152,722 Y40C probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arfgef3 G A 10: 18,652,706 A311V probably damaging Het
Cass4 A G 2: 172,427,300 D434G probably damaging Het
Cep250 A C 2: 155,998,291 T2390P possibly damaging Het
Cpm C A 10: 117,659,775 N56K probably benign Het
Cspp1 T C 1: 10,085,931 L455P probably damaging Het
Dcx T C X: 143,931,154 K51E possibly damaging Het
Ehd3 T C 17: 73,828,094 F322L probably benign Het
Ell A G 8: 70,578,913 D87G probably damaging Het
Epor C T 9: 21,959,439 probably null Het
Gm1966 T A 7: 106,602,035 E667D probably benign Het
Gpr152 T C 19: 4,143,627 I389T probably benign Het
Kmo T A 1: 175,655,095 D328E possibly damaging Het
Llgl1 A G 11: 60,706,490 H255R probably damaging Het
Lrch3 T A 16: 32,979,541 H416Q probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mdm1 T G 10: 118,157,251 H320Q probably damaging Het
Nol4 T A 18: 22,823,498 H209L probably damaging Het
Olfr482 A T 7: 108,094,839 C244S probably damaging Het
Pcdhac2 T C 18: 37,146,286 V773A possibly damaging Het
Pde3a A G 6: 141,459,228 N393S probably benign Het
Pik3r5 A G 11: 68,494,547 K700R probably benign Het
Prob1 G A 18: 35,653,333 R623C possibly damaging Het
Slc14a2 T C 18: 78,192,213 N112D probably damaging Het
Snapc3 C T 4: 83,450,177 P304S probably damaging Het
Spin2c T A X: 153,833,625 W145R probably damaging Het
Tmem131l T C 3: 83,922,122 E1075G probably damaging Het
Trip12 C T 1: 84,751,978 R995Q probably damaging Het
Trpm6 T A 19: 18,825,794 L867* probably null Het
Vmn1r87 T G 7: 13,132,303 H19P probably damaging Het
Vps16 A G 2: 130,438,353 E139G possibly damaging Het
Other mutations in Exosc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Exosc10 APN 4 148562887 unclassified probably benign
IGL01990:Exosc10 APN 4 148566410 missense possibly damaging 0.83
IGL02137:Exosc10 APN 4 148561133 missense probably damaging 0.97
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 On2013-11-05