Incidental Mutation 'IGL02650:Dis3'
ID302107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dis3
Ensembl Gene ENSMUSG00000033166
Gene NameDIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
Synonyms2810028N01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.974) question?
Stock #IGL02650
Quality Score
Status
Chromosome14
Chromosomal Location99075206-99099770 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99098785 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 95 (M95K)
Ref Sequence ENSEMBL: ENSMUSP00000154479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000228643]
Predicted Effect probably benign
Transcript: ENSMUST00000022650
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
coiled coil region 58 165 N/A INTRINSIC
coiled coil region 200 364 N/A INTRINSIC
coiled coil region 396 444 N/A INTRINSIC
coiled coil region 474 553 N/A INTRINSIC
coiled coil region 586 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042471
AA Change: M95K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: M95K

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
PINc 64 182 2.8e-24 SMART
low complexity region 425 436 N/A INTRINSIC
RNB 467 797 5.56e-141 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227001
Predicted Effect probably benign
Transcript: ENSMUST00000227022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228598
Predicted Effect probably benign
Transcript: ENSMUST00000228643
AA Change: M95K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,741,537 T586A probably benign Het
Acads G T 5: 115,112,815 T141N probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm3252 T A 14: 4,746,353 V215E probably damaging Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Mapre3 T A 5: 30,864,709 I187N probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Parp16 G A 9: 65,233,816 V223I probably damaging Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tctex1d1 C A 4: 102,988,606 Q12K probably benign Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Dis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Dis3 APN 14 99082674 missense probably damaging 1.00
IGL00821:Dis3 APN 14 99091486 missense probably benign 0.00
IGL00975:Dis3 APN 14 99079234 missense probably damaging 1.00
IGL01536:Dis3 APN 14 99079423 missense probably damaging 1.00
IGL01538:Dis3 APN 14 99097745 missense probably benign 0.00
IGL02143:Dis3 APN 14 99091318 splice site probably benign
IGL02270:Dis3 APN 14 99078354 missense probably benign 0.01
IGL02354:Dis3 APN 14 99079712 nonsense probably null
IGL02361:Dis3 APN 14 99079712 nonsense probably null
IGL03053:Dis3 APN 14 99098734 missense probably benign 0.00
IGL03057:Dis3 APN 14 99089990 missense possibly damaging 0.95
IGL03389:Dis3 APN 14 99095347 splice site probably benign
R0415:Dis3 UTSW 14 99087456 missense probably damaging 1.00
R0504:Dis3 UTSW 14 99081390 splice site probably benign
R1535:Dis3 UTSW 14 99079426 missense probably damaging 1.00
R1756:Dis3 UTSW 14 99086103 missense probably damaging 1.00
R1767:Dis3 UTSW 14 99084142 missense probably damaging 1.00
R1883:Dis3 UTSW 14 99091469 missense probably benign 0.21
R1938:Dis3 UTSW 14 99097590 missense probably benign 0.09
R2056:Dis3 UTSW 14 99098815 missense possibly damaging 0.90
R2133:Dis3 UTSW 14 99079877 missense probably benign 0.18
R2448:Dis3 UTSW 14 99087412 missense probably damaging 0.99
R3407:Dis3 UTSW 14 99098776 missense probably benign 0.15
R4052:Dis3 UTSW 14 99095316 missense probably benign 0.00
R4207:Dis3 UTSW 14 99095316 missense probably benign 0.00
R4208:Dis3 UTSW 14 99095316 missense probably benign 0.00
R4465:Dis3 UTSW 14 99084114 missense possibly damaging 0.88
R4612:Dis3 UTSW 14 99091435 missense probably benign 0.07
R4859:Dis3 UTSW 14 99087790 missense probably damaging 1.00
R4932:Dis3 UTSW 14 99088904 missense probably damaging 1.00
R5273:Dis3 UTSW 14 99098806 missense probably benign 0.32
R5335:Dis3 UTSW 14 99097653 missense possibly damaging 0.72
R5409:Dis3 UTSW 14 99085932 missense possibly damaging 0.95
R5802:Dis3 UTSW 14 99099664 missense probably damaging 1.00
R6156:Dis3 UTSW 14 99098779 missense probably benign 0.10
R6309:Dis3 UTSW 14 99085922 missense probably benign 0.00
Posted On2015-04-16