Incidental Mutation 'R5802:Dis3'
ID 448801
Institutional Source Beutler Lab
Gene Symbol Dis3
Ensembl Gene ENSMUSG00000033166
Gene Name DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
Synonyms 2810028N01Rik
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5802 (G1)
Quality Score 171
Status Validated
Chromosome 14
Chromosomal Location 99314070-99337217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99337100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 4 (S4T)
Ref Sequence ENSEMBL: ENSMUSP00000154489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000228643]
AlphaFold Q9CSH3
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: S4T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: S4T

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 damaging
Transcript: ENSMUST00000227022
AA Change: S4T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228279
Predicted Effect possibly damaging
Transcript: ENSMUST00000228643
AA Change: S4T

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228449
Meta Mutation Damage Score 0.2483 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACATTGGTGTCCGGCAGAAG -3'
(R):5'- CTGTAGTCCAGAGGAAAGCC -3'

Sequencing Primer
(F):5'- TGTCCGGCAGAAGGTAGTGC -3'
(R):5'- CAGAGGAAAGCCCCGCC -3'
Posted On 2016-12-15