Incidental Mutation 'IGL00821:Dis3'
ID 13414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dis3
Ensembl Gene ENSMUSG00000033166
Gene Name DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
Synonyms 2810028N01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00821
Quality Score
Status
Chromosome 14
Chromosomal Location 99314070-99337217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99328922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 277 (I277V)
Ref Sequence ENSEMBL: ENSMUSP00000041906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000228643]
AlphaFold Q9CSH3
Predicted Effect probably benign
Transcript: ENSMUST00000042471
AA Change: I277V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: I277V

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 probably benign
Transcript: ENSMUST00000227022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228449
Predicted Effect probably benign
Transcript: ENSMUST00000228643
AA Change: I277V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cad T C 5: 31,218,828 (GRCm39) Y550H probably damaging Het
Cep350 A G 1: 155,737,950 (GRCm39) V2631A probably benign Het
Cpa2 A G 6: 30,564,411 (GRCm39) D414G probably benign Het
Dhx38 T C 8: 110,282,286 (GRCm39) I714V probably benign Het
Espl1 T C 15: 102,208,248 (GRCm39) L418P probably damaging Het
F7 A G 8: 13,078,802 (GRCm39) T78A probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Golga3 C A 5: 110,352,799 (GRCm39) H897N possibly damaging Het
Itgae T A 11: 73,013,974 (GRCm39) D724E probably damaging Het
Klb A T 5: 65,529,492 (GRCm39) Y340F probably damaging Het
Kmt2b A T 7: 30,270,038 (GRCm39) L2436Q probably damaging Het
Krt17 A G 11: 100,151,457 (GRCm39) L112P probably damaging Het
Lrp2 T A 2: 69,289,860 (GRCm39) N3660Y probably damaging Het
Mia2 T C 12: 59,217,106 (GRCm39) probably null Het
Myh2 C T 11: 67,088,223 (GRCm39) probably benign Het
Nr2f1 A G 13: 78,346,233 (GRCm39) probably benign Het
Odf2l T A 3: 144,856,748 (GRCm39) S568T probably damaging Het
Parl G A 16: 20,116,958 (GRCm39) P80S probably damaging Het
Ppfibp2 T G 7: 107,329,083 (GRCm39) F531V probably damaging Het
Prpf40b A G 15: 99,214,382 (GRCm39) E854G probably benign Het
Rere A G 4: 150,703,920 (GRCm39) K1551E probably damaging Het
Sacm1l A T 9: 123,399,614 (GRCm39) Q302L possibly damaging Het
Slc41a2 A G 10: 83,149,394 (GRCm39) probably benign Het
Smchd1 T C 17: 71,705,618 (GRCm39) T994A possibly damaging Het
Ubxn7 G A 16: 32,188,216 (GRCm39) D125N probably damaging Het
Zfp667 A G 7: 6,308,396 (GRCm39) N355D possibly damaging Het
Zfp839 T C 12: 110,831,441 (GRCm39) probably null Het
Zfpm2 T A 15: 40,966,783 (GRCm39) N957K probably damaging Het
Other mutations in Dis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Dis3 APN 14 99,320,110 (GRCm39) missense probably damaging 1.00
IGL00975:Dis3 APN 14 99,316,670 (GRCm39) missense probably damaging 1.00
IGL01536:Dis3 APN 14 99,316,859 (GRCm39) missense probably damaging 1.00
IGL01538:Dis3 APN 14 99,335,181 (GRCm39) missense probably benign 0.00
IGL02143:Dis3 APN 14 99,328,754 (GRCm39) splice site probably benign
IGL02270:Dis3 APN 14 99,315,790 (GRCm39) missense probably benign 0.01
IGL02354:Dis3 APN 14 99,317,148 (GRCm39) nonsense probably null
IGL02361:Dis3 APN 14 99,317,148 (GRCm39) nonsense probably null
IGL02650:Dis3 APN 14 99,336,221 (GRCm39) missense probably benign 0.00
IGL03053:Dis3 APN 14 99,336,170 (GRCm39) missense probably benign 0.00
IGL03057:Dis3 APN 14 99,327,426 (GRCm39) missense possibly damaging 0.95
IGL03389:Dis3 APN 14 99,332,783 (GRCm39) splice site probably benign
R0415:Dis3 UTSW 14 99,324,892 (GRCm39) missense probably damaging 1.00
R0504:Dis3 UTSW 14 99,318,826 (GRCm39) splice site probably benign
R1535:Dis3 UTSW 14 99,316,862 (GRCm39) missense probably damaging 1.00
R1756:Dis3 UTSW 14 99,323,539 (GRCm39) missense probably damaging 1.00
R1767:Dis3 UTSW 14 99,321,578 (GRCm39) missense probably damaging 1.00
R1883:Dis3 UTSW 14 99,328,905 (GRCm39) missense probably benign 0.21
R1938:Dis3 UTSW 14 99,335,026 (GRCm39) missense probably benign 0.09
R2056:Dis3 UTSW 14 99,336,251 (GRCm39) missense possibly damaging 0.90
R2133:Dis3 UTSW 14 99,317,313 (GRCm39) missense probably benign 0.18
R2448:Dis3 UTSW 14 99,324,848 (GRCm39) missense probably damaging 0.99
R3407:Dis3 UTSW 14 99,336,212 (GRCm39) missense probably benign 0.15
R4052:Dis3 UTSW 14 99,332,752 (GRCm39) missense probably benign 0.00
R4207:Dis3 UTSW 14 99,332,752 (GRCm39) missense probably benign 0.00
R4208:Dis3 UTSW 14 99,332,752 (GRCm39) missense probably benign 0.00
R4465:Dis3 UTSW 14 99,321,550 (GRCm39) missense possibly damaging 0.88
R4612:Dis3 UTSW 14 99,328,871 (GRCm39) missense probably benign 0.07
R4859:Dis3 UTSW 14 99,325,226 (GRCm39) missense probably damaging 1.00
R4932:Dis3 UTSW 14 99,326,340 (GRCm39) missense probably damaging 1.00
R5273:Dis3 UTSW 14 99,336,242 (GRCm39) missense probably benign 0.32
R5335:Dis3 UTSW 14 99,335,089 (GRCm39) missense possibly damaging 0.72
R5409:Dis3 UTSW 14 99,323,368 (GRCm39) missense possibly damaging 0.95
R5802:Dis3 UTSW 14 99,337,100 (GRCm39) missense probably damaging 1.00
R6156:Dis3 UTSW 14 99,336,215 (GRCm39) missense probably benign 0.10
R6309:Dis3 UTSW 14 99,323,358 (GRCm39) missense probably benign 0.00
R7275:Dis3 UTSW 14 99,324,925 (GRCm39) missense probably damaging 1.00
R7511:Dis3 UTSW 14 99,337,042 (GRCm39) missense possibly damaging 0.94
R7535:Dis3 UTSW 14 99,327,415 (GRCm39) missense probably benign 0.15
R7794:Dis3 UTSW 14 99,336,233 (GRCm39) missense probably benign 0.04
R8013:Dis3 UTSW 14 99,314,835 (GRCm39) missense possibly damaging 0.50
R8014:Dis3 UTSW 14 99,314,835 (GRCm39) missense possibly damaging 0.50
R8077:Dis3 UTSW 14 99,327,471 (GRCm39) missense probably benign 0.03
R8957:Dis3 UTSW 14 99,337,027 (GRCm39) missense probably damaging 1.00
R9072:Dis3 UTSW 14 99,332,647 (GRCm39) missense probably benign 0.44
R9073:Dis3 UTSW 14 99,332,647 (GRCm39) missense probably benign 0.44
R9345:Dis3 UTSW 14 99,318,814 (GRCm39) missense probably damaging 1.00
R9542:Dis3 UTSW 14 99,316,975 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06