Incidental Mutation 'IGL01536:Dis3'
ID 89959
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 # IGL01536
Quality Score
Status
Chromosome 14
Chromosomal Location 99314070-99337217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99316859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 826 (Y826H)
Ref Sequence ENSEMBL: ENSMUSP00000041906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000227744] [ENSMUST00000228643]
AlphaFold Q9CSH3
Predicted Effect probably benign
Transcript: ENSMUST00000022656
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070

DomainStartEndE-ValueType
Pfam:BORA_N 7 207 2.4e-69 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000042471
AA Change: Y826H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: Y826H

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 probably benign
Transcript: ENSMUST00000227744
Predicted Effect probably benign
Transcript: ENSMUST00000228643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228756
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Ccnc A G 4: 21,732,505 (GRCm39) I81V probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Pik3cd A G 4: 149,737,123 (GRCm39) V891A probably damaging Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sntg1 C T 1: 8,653,424 (GRCm39) probably null Het
Sstr4 T C 2: 148,237,800 (GRCm39) L137P probably damaging Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tbc1d9 A G 8: 83,987,621 (GRCm39) Y860C probably damaging Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) probably null Het
Other mutations in Dis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Dis3 APN 14 99,320,110 (GRCm39) missense probably damaging 1.00
IGL00821:Dis3 APN 14 99,328,922 (GRCm39) missense probably benign 0.00
IGL00975:Dis3 APN 14 99,316,670 (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 2013-12-03