Incidental Mutation 'R4052:Dis3'
ID 314220
Institutional Source Beutler Lab
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 # R4052 ()
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 99314070-99337217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 99332752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 227 (I227L)
Ref Sequence ENSEMBL: ENSMUSP00000041906 (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: I227L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: I227L

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 probably benign
Transcript: ENSMUST00000228643
AA Change: I227L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228354
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik T G 13: 119,624,738 (GRCm39) probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adam29 T C 8: 56,325,317 (GRCm39) Y379C probably damaging Het
Apol10a A T 15: 77,373,185 (GRCm39) I274L probably benign Het
BC005537 T A 13: 24,993,881 (GRCm39) F119I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Cyp4a30b A G 4: 115,311,539 (GRCm39) D69G probably benign Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dhx30 A G 9: 109,929,889 (GRCm39) V69A possibly damaging Het
Dock3 A G 9: 106,850,995 (GRCm39) S836P probably damaging Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Erap1 A G 13: 74,823,459 (GRCm39) N831S probably benign Het
Gimap3 T A 6: 48,743,447 (GRCm39) T3S possibly damaging Het
Gpr82 C T X: 13,531,898 (GRCm39) P149S probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Helz2 A G 2: 180,882,268 (GRCm39) L175P probably damaging Het
Il36b T C 2: 24,049,844 (GRCm39) F152L probably damaging Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Macf1 A G 4: 123,365,810 (GRCm39) S1419P probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Ncapd3 T A 9: 27,000,679 (GRCm39) probably null Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
P2rx7 T C 5: 122,804,340 (GRCm39) F293S probably damaging Het
Pabpc1l T C 2: 163,885,533 (GRCm39) W429R probably benign Het
Parp14 T C 16: 35,678,771 (GRCm39) E399G probably benign Het
Pde6h A G 6: 136,936,266 (GRCm39) D3G unknown Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rasgrp3 T C 17: 75,803,963 (GRCm39) F89L probably damaging Het
Rif1 A T 2: 51,988,483 (GRCm39) K741* probably null Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Rnf207 C A 4: 152,395,894 (GRCm39) Q533H probably benign Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Spry2 A T 14: 106,130,635 (GRCm39) C184S probably damaging Het
Sulf2 T C 2: 165,936,510 (GRCm39) Y152C probably damaging Het
Thrap3 G A 4: 126,070,012 (GRCm39) A625V probably damaging Het
Tmem39a T A 16: 38,406,650 (GRCm39) V329D probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trim30b T A 7: 104,006,685 (GRCm39) Q57L possibly damaging Het
Uggt1 A G 1: 36,203,570 (GRCm39) V1020A probably damaging Het
Zfp941 T G 7: 140,392,340 (GRCm39) K340Q possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTGCTATTGCTGGGAACAAAGAGAC -3'
(R):5'- ACCACCTTCTTTACAGCGAG -3'

Sequencing Primer
(F):5'- GGTGGAAAAGCCTGCAGC -3'
(R):5'- GCGAGTTATTTTAGATACAAGTGGTC -3'
Posted On 2015-04-30