Incidental Mutation 'IGL02965:Dis3l'
ID365545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dis3l
Ensembl Gene ENSMUSG00000032396
Gene NameDIS3 like exosome 3'-5' exoribonuclease
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.316) question?
Stock #IGL02965
Quality Score
Status
Chromosome9
Chromosomal Location64306756-64341288 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64310484 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 772 (F772L)
Ref Sequence ENSEMBL: ENSMUSP00000129772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844]
Predicted Effect probably damaging
Transcript: ENSMUST00000068367
AA Change: F689L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: F689L

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113890
AA Change: F689L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: F689L

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120760
AA Change: F689L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: F689L

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168844
AA Change: F772L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: F772L

DomainStartEndE-ValueType
low complexity region 208 220 N/A INTRINSIC
RNB 465 817 4.82e-127 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,180,613 K1471R probably benign Het
Add1 A G 5: 34,620,123 S77G probably damaging Het
Atm G T 9: 53,453,563 N2642K probably damaging Het
Atp6v0a2 T A 5: 124,629,202 M10K possibly damaging Het
Btd T A 14: 31,667,236 S305T probably damaging Het
Cmya5 C T 13: 93,092,557 V2008I probably benign Het
Cpd T G 11: 76,790,988 probably benign Het
Dlg5 A T 14: 24,172,023 I517N probably damaging Het
Fig4 G A 10: 41,285,665 T34M probably damaging Het
Flna C T X: 74,227,210 V2235I probably damaging Het
Flot2 T C 11: 78,059,205 I371T possibly damaging Het
Fsip2 G A 2: 82,983,054 S3239N probably benign Het
Gbp3 A G 3: 142,567,582 I297V probably benign Het
Gcnt3 T C 9: 70,034,953 E111G probably benign Het
Gdi1 G T X: 74,307,725 A148S probably benign Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Hsp90aa1 A G 12: 110,695,679 M1T probably null Het
Iltifb A G 10: 118,294,857 S45P probably damaging Het
Inppl1 C A 7: 101,828,271 V715F possibly damaging Het
Kansl1 T C 11: 104,335,165 Y975C probably damaging Het
Kif18b A G 11: 102,916,512 probably benign Het
Krt40 T A 11: 99,541,666 R175W probably damaging Het
Map3k19 T C 1: 127,824,066 D516G probably damaging Het
Mfsd3 A G 15: 76,703,152 H345R probably benign Het
Mlkl A T 8: 111,331,837 I162N probably benign Het
Mtnr1a A T 8: 45,069,382 N58I probably damaging Het
Nsmf T C 2: 25,061,762 V499A probably damaging Het
Nudt6 A G 3: 37,419,506 L22P probably damaging Het
Nxf7 T G X: 135,589,410 E35A probably damaging Het
Olfr748 A C 14: 50,711,196 I289L probably damaging Het
Paf1 T C 7: 28,396,204 probably null Het
Pcdhb11 G T 18: 37,423,968 V784L probably benign Het
Pglyrp2 T C 17: 32,418,586 D156G probably benign Het
Pnpt1 A G 11: 29,156,939 D670G probably damaging Het
Polr1b T A 2: 129,125,523 H945Q probably benign Het
Ptk6 C T 2: 181,199,068 probably benign Het
Rftn1 C T 17: 50,055,252 E273K probably benign Het
Rnf125 A G 18: 20,983,111 I117V probably benign Het
Robo4 A G 9: 37,410,469 K742R possibly damaging Het
Sez6l T C 5: 112,475,574 E37G probably damaging Het
Skint4 A T 4: 112,136,021 I306L probably benign Het
Sntb1 A T 15: 55,642,685 Y497* probably null Het
Snx27 C A 3: 94,582,426 V42L probably damaging Het
Sorbs1 T A 19: 40,376,743 T199S probably benign Het
Sorcs2 A G 5: 36,077,957 Y72H probably benign Het
Spef2 G T 15: 9,725,106 probably benign Het
Sucla2 G T 14: 73,579,431 V204L probably benign Het
Tescl C A 7: 24,333,673 V76F probably damaging Het
Tnxb T A 17: 34,709,654 Y2681N possibly damaging Het
Usp42 T C 5: 143,728,014 T2A probably damaging Het
Vdac3-ps1 T A 13: 18,030,846 noncoding transcript Het
Wapl T A 14: 34,739,224 probably benign Het
Other mutations in Dis3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Dis3l APN 9 64319254 critical splice acceptor site probably null
IGL01812:Dis3l APN 9 64310237 missense probably benign 0.00
IGL01838:Dis3l APN 9 64308299 missense probably benign 0.41
IGL02104:Dis3l APN 9 64310329 missense possibly damaging 0.61
IGL02478:Dis3l APN 9 64314773 missense probably benign 0.00
IGL02481:Dis3l APN 9 64319080 splice site probably null
IGL02483:Dis3l APN 9 64319080 splice site probably null
IGL03139:Dis3l APN 9 64311950 missense probably damaging 0.99
IGL03054:Dis3l UTSW 9 64310440 critical splice donor site probably null
R0066:Dis3l UTSW 9 64319165 missense probably benign 0.27
R0066:Dis3l UTSW 9 64319165 missense probably benign 0.27
R0724:Dis3l UTSW 9 64307126 missense possibly damaging 0.92
R0801:Dis3l UTSW 9 64319154 missense probably benign
R0925:Dis3l UTSW 9 64341130 start codon destroyed probably null 0.97
R1502:Dis3l UTSW 9 64325787 missense possibly damaging 0.68
R1541:Dis3l UTSW 9 64307489 missense probably benign 0.07
R1794:Dis3l UTSW 9 64317776 missense possibly damaging 0.67
R1929:Dis3l UTSW 9 64330883 missense probably damaging 0.96
R2007:Dis3l UTSW 9 64308276 unclassified probably null
R2062:Dis3l UTSW 9 64339573 missense probably benign 0.02
R2152:Dis3l UTSW 9 64307263 missense probably benign 0.00
R2153:Dis3l UTSW 9 64307263 missense probably benign 0.00
R2154:Dis3l UTSW 9 64307263 missense probably benign 0.00
R2186:Dis3l UTSW 9 64339612 nonsense probably null
R2271:Dis3l UTSW 9 64330883 missense probably damaging 0.96
R2280:Dis3l UTSW 9 64317794 missense possibly damaging 0.70
R2287:Dis3l UTSW 9 64307497 missense probably benign 0.20
R3156:Dis3l UTSW 9 64311750 missense probably benign 0.25
R4664:Dis3l UTSW 9 64330798 missense unknown
R4775:Dis3l UTSW 9 64330908 missense probably benign 0.16
R4977:Dis3l UTSW 9 64307201 missense probably benign 0.00
R4997:Dis3l UTSW 9 64311942 missense possibly damaging 0.76
R5097:Dis3l UTSW 9 64319216 missense probably damaging 1.00
R5579:Dis3l UTSW 9 64330835 missense probably benign 0.44
R5623:Dis3l UTSW 9 64307603 missense possibly damaging 0.70
R6310:Dis3l UTSW 9 64322575 missense probably benign 0.00
R6442:Dis3l UTSW 9 64307555 missense probably benign
R6505:Dis3l UTSW 9 64307513 missense probably benign 0.15
R6731:Dis3l UTSW 9 64310438 splice site probably null
R7008:Dis3l UTSW 9 64310453 missense possibly damaging 0.96
R7405:Dis3l UTSW 9 64314704 missense probably damaging 1.00
R7555:Dis3l UTSW 9 64311937 nonsense probably null
R7798:Dis3l UTSW 9 64341017 missense probably benign
R7890:Dis3l UTSW 9 64322471 missense probably benign 0.00
R8329:Dis3l UTSW 9 64311830 missense possibly damaging 0.50
X0020:Dis3l UTSW 9 64325734 missense probably damaging 1.00
X0065:Dis3l UTSW 9 64307054 missense probably damaging 0.99
Posted On2015-12-18