Incidental Mutation 'R6921:Dis3l2'
ID 539619
Institutional Source Beutler Lab
Gene Symbol Dis3l2
Ensembl Gene ENSMUSG00000053333
Gene Name DIS3 like 3'-5' exoribonuclease 2
Synonyms 4930429A22Rik, 8030493P09Rik
MMRRC Submission 045006-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R6921 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 86703808-87050095 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86857341 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 318 (I318T)
Ref Sequence ENSEMBL: ENSMUSP00000132673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065694] [ENSMUST00000168237] [ENSMUST00000190618]
AlphaFold Q8CI75
Predicted Effect probably benign
Transcript: ENSMUST00000065694
AA Change: I304T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: I304T

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
RNB 369 719 8.9e-140 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168237
AA Change: I318T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: I318T

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
RNB 383 733 8.9e-140 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190618
SMART Domains Protein: ENSMUSP00000139579
Gene: ENSMUSG00000053333

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
PDB:2VNU|D 50 123 4e-10 PDB
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.4%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,258,736 (GRCm38) H118Q probably damaging Het
Adgrl3 T G 5: 81,648,713 (GRCm38) V623G probably damaging Het
B9d2 A G 7: 25,686,017 (GRCm38) D84G probably damaging Het
Clec1a A T 6: 129,428,864 (GRCm38) L268H probably damaging Het
Copa A T 1: 172,111,924 (GRCm38) N576I possibly damaging Het
Cyp11b1 T C 15: 74,840,949 (GRCm38) T88A probably benign Het
Dmtf1 T C 5: 9,130,654 (GRCm38) probably benign Het
Dnah17 C A 11: 118,041,484 (GRCm38) A3639S probably damaging Het
Dnajc8 T A 4: 132,544,720 (GRCm38) I89N probably damaging Het
Dync2h1 T A 9: 7,102,549 (GRCm38) H377L probably benign Het
Elmsan1 A G 12: 84,156,459 (GRCm38) S890P probably damaging Het
Erfe T A 1: 91,370,332 (GRCm38) I212N probably benign Het
Fam117b A G 1: 59,952,935 (GRCm38) T248A probably damaging Het
Fbxo10 A T 4: 45,044,849 (GRCm38) N595K probably damaging Het
Fzd10 T A 5: 128,601,582 (GRCm38) M122K probably damaging Het
Gm4070 G A 7: 105,901,980 (GRCm38) Q622* probably null Het
Gpr15 C T 16: 58,717,781 (GRCm38) R315H probably benign Het
H6pd T C 4: 149,982,051 (GRCm38) D626G probably damaging Het
Hexdc A G 11: 121,222,281 (GRCm38) D514G probably damaging Het
Hoxd4 T C 2: 74,728,492 (GRCm38) S220P possibly damaging Het
Invs A G 4: 48,396,260 (GRCm38) H311R possibly damaging Het
Ip6k1 A G 9: 108,024,435 (GRCm38) T70A probably damaging Het
Lipt2 T C 7: 100,160,371 (GRCm38) C222R probably damaging Het
Lrrc3 T A 10: 77,901,032 (GRCm38) D190V probably damaging Het
March10 T C 11: 105,389,777 (GRCm38) T561A probably benign Het
Mcm10 G A 2: 5,000,935 (GRCm38) T463I probably benign Het
Mmel1 T C 4: 154,881,677 (GRCm38) L52P probably damaging Het
Nipbl T C 15: 8,303,485 (GRCm38) N2218S probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm38) P80L probably benign Het
Nrip1 C T 16: 76,292,588 (GRCm38) G694R possibly damaging Het
Oit3 A T 10: 59,435,945 (GRCm38) C197S probably damaging Het
Olfr1042 C T 2: 86,159,852 (GRCm38) V173M probably benign Het
Olfr904 A G 9: 38,464,247 (GRCm38) I69V probably benign Het
Otol1 A G 3: 70,028,100 (GRCm38) E475G possibly damaging Het
Pes1 T C 11: 3,973,330 (GRCm38) F168L probably damaging Het
Plch1 C T 3: 63,707,734 (GRCm38) R780H possibly damaging Het
Pxdn C G 12: 30,015,505 (GRCm38) P1275A probably damaging Het
Sgcz T C 8: 37,526,289 (GRCm38) E218G probably damaging Het
Slc27a5 A T 7: 12,991,208 (GRCm38) N437K probably damaging Het
Sult2b1 A G 7: 45,735,188 (GRCm38) S155P probably damaging Het
Tgfbrap1 T C 1: 43,051,896 (GRCm38) M690V probably benign Het
Tmem151a A T 19: 5,083,091 (GRCm38) L29Q probably damaging Het
Tmprss2 A G 16: 97,568,437 (GRCm38) I379T probably damaging Het
Vmn1r168 T A 7: 23,540,898 (GRCm38) V60E probably damaging Het
Vmn2r73 A C 7: 85,858,238 (GRCm38) V622G probably benign Het
Wdr72 A G 9: 74,210,646 (GRCm38) H880R probably benign Het
Zfhx3 A G 8: 108,951,392 (GRCm38) T3025A possibly damaging Het
Other mutations in Dis3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Dis3l2 APN 1 86,857,203 (GRCm38) missense probably benign 0.00
IGL01607:Dis3l2 APN 1 86,745,487 (GRCm38) missense probably benign 0.04
IGL02233:Dis3l2 APN 1 86,990,231 (GRCm38) missense probably damaging 1.00
IGL02698:Dis3l2 APN 1 87,048,829 (GRCm38) splice site probably benign
R0514:Dis3l2 UTSW 1 87,047,092 (GRCm38) missense probably damaging 1.00
R0893:Dis3l2 UTSW 1 87,044,206 (GRCm38) splice site probably null
R1086:Dis3l2 UTSW 1 86,990,149 (GRCm38) missense probably benign 0.36
R1140:Dis3l2 UTSW 1 86,821,438 (GRCm38) missense probably benign 0.00
R1509:Dis3l2 UTSW 1 87,021,086 (GRCm38) missense possibly damaging 0.91
R2029:Dis3l2 UTSW 1 86,854,467 (GRCm38) splice site probably benign
R2511:Dis3l2 UTSW 1 86,990,258 (GRCm38) missense probably benign 0.05
R3772:Dis3l2 UTSW 1 86,854,408 (GRCm38) missense probably benign
R4163:Dis3l2 UTSW 1 86,821,237 (GRCm38) missense probably benign 0.00
R4547:Dis3l2 UTSW 1 87,049,671 (GRCm38) missense probably benign 0.00
R4548:Dis3l2 UTSW 1 87,049,671 (GRCm38) missense probably benign 0.00
R4650:Dis3l2 UTSW 1 86,990,321 (GRCm38) missense possibly damaging 0.83
R4810:Dis3l2 UTSW 1 87,047,574 (GRCm38) missense probably damaging 0.99
R4936:Dis3l2 UTSW 1 87,044,168 (GRCm38) missense probably benign 0.00
R5010:Dis3l2 UTSW 1 86,760,321 (GRCm38) missense probably benign 0.21
R5040:Dis3l2 UTSW 1 86,857,337 (GRCm38) missense probably damaging 0.98
R5272:Dis3l2 UTSW 1 86,973,404 (GRCm38) missense possibly damaging 0.72
R5500:Dis3l2 UTSW 1 87,021,119 (GRCm38) critical splice donor site probably null
R5556:Dis3l2 UTSW 1 86,973,404 (GRCm38) missense possibly damaging 0.72
R5772:Dis3l2 UTSW 1 86,878,432 (GRCm38) missense probably damaging 1.00
R5808:Dis3l2 UTSW 1 87,049,638 (GRCm38) missense possibly damaging 0.94
R5950:Dis3l2 UTSW 1 87,021,108 (GRCm38) missense probably damaging 0.96
R6328:Dis3l2 UTSW 1 86,854,431 (GRCm38) missense probably benign 0.05
R6553:Dis3l2 UTSW 1 86,745,494 (GRCm38) missense probably damaging 1.00
R6585:Dis3l2 UTSW 1 86,745,494 (GRCm38) missense probably damaging 1.00
R6905:Dis3l2 UTSW 1 87,044,839 (GRCm38) missense probably benign 0.00
R7162:Dis3l2 UTSW 1 87,044,030 (GRCm38) missense possibly damaging 0.94
R7270:Dis3l2 UTSW 1 86,990,303 (GRCm38) missense possibly damaging 0.49
R7438:Dis3l2 UTSW 1 86,745,500 (GRCm38) critical splice donor site probably null
R8422:Dis3l2 UTSW 1 86,854,377 (GRCm38) missense probably benign
R8696:Dis3l2 UTSW 1 86,791,440 (GRCm38) nonsense probably null
R9235:Dis3l2 UTSW 1 86,821,339 (GRCm38) missense possibly damaging 0.95
R9291:Dis3l2 UTSW 1 86,973,493 (GRCm38) missense possibly damaging 0.82
R9629:Dis3l2 UTSW 1 87,047,062 (GRCm38) missense probably benign 0.00
X0027:Dis3l2 UTSW 1 86,760,351 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCAACTGGCATCCTGAAACTC -3'
(R):5'- TGTTTGCCTGGTAATCCAAGACATC -3'

Sequencing Primer
(F):5'- CTCTTGGCTGATAAGAACAGTGACC -3'
(R):5'- ACATCTATAGGTGACCTATGGGC -3'
Posted On 2018-11-06