Incidental Mutation 'R7008:Dis3l'
ID 544839
Institutional Source Beutler Lab
Gene Symbol Dis3l
Ensembl Gene ENSMUSG00000032396
Gene Name DIS3 like exosome 3'-5' exoribonuclease
Synonyms
MMRRC Submission 045110-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R7008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64214038-64248570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64217735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 782 (F782S)
Ref Sequence ENSEMBL: ENSMUSP00000129772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844]
AlphaFold Q8C0S1
Predicted Effect possibly damaging
Transcript: ENSMUST00000068367
AA Change: F699S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: F699S

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113890
AA Change: F699S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: F699S

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120760
AA Change: F699S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: F699S

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168844
AA Change: F782S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: F782S

DomainStartEndE-ValueType
low complexity region 208 220 N/A INTRINSIC
RNB 465 817 4.82e-127 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T A 5: 90,407,955 (GRCm39) I1421F possibly damaging Het
Arhgef11 C A 3: 87,636,525 (GRCm39) T992K possibly damaging Het
Arid1b T C 17: 5,341,254 (GRCm39) Y853H probably damaging Het
Bcl10 G T 3: 145,639,054 (GRCm39) R232L probably benign Het
Best2 T A 8: 85,739,840 (GRCm39) I76F possibly damaging Het
Card11 G C 5: 140,859,148 (GRCm39) R1133G probably damaging Het
Card9 T C 2: 26,247,811 (GRCm39) D180G possibly damaging Het
Ccdc162 T A 10: 41,428,411 (GRCm39) E119V probably damaging Het
Ccdc168 T C 1: 44,098,785 (GRCm39) D771G probably benign Het
Cd2bp2 T C 7: 126,794,567 (GRCm39) D15G possibly damaging Het
Cdk7 A C 13: 100,854,129 (GRCm39) M120R probably damaging Het
Cryba4 T A 5: 112,399,648 (GRCm39) T2S probably benign Het
Cyp19a1 A T 9: 54,100,609 (GRCm39) M26K probably benign Het
Dgcr2 A G 16: 17,662,865 (GRCm39) S157P probably damaging Het
Ephb4 T A 5: 137,359,536 (GRCm39) S369T probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
H1f4 T C 13: 23,806,192 (GRCm39) K97E probably damaging Het
Igf2bp2 A T 16: 21,900,582 (GRCm39) D118E probably benign Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Klhl5 T C 5: 65,300,592 (GRCm39) S52P probably benign Het
Lrrc28 A T 7: 67,245,459 (GRCm39) probably benign Het
Map4k4 T G 1: 40,028,131 (GRCm39) D317E probably benign Het
Maz A T 7: 126,623,784 (GRCm39) C66S probably damaging Het
Mbd4 T C 6: 115,827,685 (GRCm39) T43A possibly damaging Het
Milr1 T A 11: 106,642,140 (GRCm39) S11T probably damaging Het
Mthfd2l T A 5: 91,107,587 (GRCm39) C150S probably damaging Het
Nemf A T 12: 69,388,395 (GRCm39) N325K possibly damaging Het
Nemf C T 12: 69,400,567 (GRCm39) probably null Het
Nod2 T A 8: 89,390,285 (GRCm39) C197* probably null Het
Odf2l A G 3: 144,838,495 (GRCm39) K241E probably damaging Het
Or4z4 G A 19: 12,076,214 (GRCm39) T263I possibly damaging Het
Or5b124 A T 19: 13,610,985 (GRCm39) N170I probably damaging Het
Osbpl10 T G 9: 114,890,916 (GRCm39) D101E probably damaging Het
Osgin1 T C 8: 120,168,233 (GRCm39) V20A possibly damaging Het
Pan3 T A 5: 147,482,503 (GRCm39) C438S probably damaging Het
Plaa A G 4: 94,457,586 (GRCm39) *795Q probably null Het
Prss35 T C 9: 86,638,361 (GRCm39) V377A probably benign Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rdh16f1 A G 10: 127,626,775 (GRCm39) H276R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sez6l T C 5: 112,612,561 (GRCm39) Y460C probably damaging Het
Sipa1l1 T G 12: 82,409,886 (GRCm39) M600R probably damaging Het
Slc11a2 T C 15: 100,307,205 (GRCm39) Y92C probably damaging Het
Slc4a10 A G 2: 62,117,266 (GRCm39) T712A probably benign Het
Sntb1 A T 15: 55,655,468 (GRCm39) Y249* probably null Het
Spatc1 A G 15: 76,167,923 (GRCm39) I127M probably benign Het
Sting1 C A 18: 35,868,224 (GRCm39) R292L probably damaging Het
Synj1 A T 16: 90,790,833 (GRCm39) N109K probably damaging Het
Tdg T A 10: 82,484,475 (GRCm39) M396K possibly damaging Het
Tmem252 T C 19: 24,651,656 (GRCm39) V75A probably damaging Het
Trim40 T C 17: 37,194,868 (GRCm39) Q142R probably damaging Het
Trip6 T C 5: 137,311,228 (GRCm39) T163A probably damaging Het
Ttn T C 2: 76,724,986 (GRCm39) probably benign Het
Wdr95 T C 5: 149,535,005 (GRCm39) L721P probably benign Het
Zfp385c A T 11: 100,521,513 (GRCm39) D182E probably damaging Het
Zfp597 A G 16: 3,683,631 (GRCm39) F375S probably benign Het
Zfp658 T G 7: 43,223,336 (GRCm39) F537C possibly damaging Het
Zgrf1 T C 3: 127,355,421 (GRCm39) F216L probably benign Het
Other mutations in Dis3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Dis3l APN 9 64,226,536 (GRCm39) critical splice acceptor site probably null
IGL01812:Dis3l APN 9 64,217,519 (GRCm39) missense probably benign 0.00
IGL01838:Dis3l APN 9 64,215,581 (GRCm39) missense probably benign 0.41
IGL02104:Dis3l APN 9 64,217,611 (GRCm39) missense possibly damaging 0.61
IGL02478:Dis3l APN 9 64,222,055 (GRCm39) missense probably benign 0.00
IGL02481:Dis3l APN 9 64,226,362 (GRCm39) splice site probably null
IGL02483:Dis3l APN 9 64,226,362 (GRCm39) splice site probably null
IGL02965:Dis3l APN 9 64,217,766 (GRCm39) missense probably damaging 0.99
IGL03139:Dis3l APN 9 64,219,232 (GRCm39) missense probably damaging 0.99
IGL03054:Dis3l UTSW 9 64,217,722 (GRCm39) critical splice donor site probably null
R0066:Dis3l UTSW 9 64,226,447 (GRCm39) missense probably benign 0.27
R0066:Dis3l UTSW 9 64,226,447 (GRCm39) missense probably benign 0.27
R0724:Dis3l UTSW 9 64,214,408 (GRCm39) missense possibly damaging 0.92
R0801:Dis3l UTSW 9 64,226,436 (GRCm39) missense probably benign
R0925:Dis3l UTSW 9 64,248,412 (GRCm39) start codon destroyed probably null 0.97
R1502:Dis3l UTSW 9 64,233,069 (GRCm39) missense possibly damaging 0.68
R1541:Dis3l UTSW 9 64,214,771 (GRCm39) missense probably benign 0.07
R1794:Dis3l UTSW 9 64,225,058 (GRCm39) missense possibly damaging 0.67
R1929:Dis3l UTSW 9 64,238,165 (GRCm39) missense probably damaging 0.96
R2007:Dis3l UTSW 9 64,215,558 (GRCm39) splice site probably null
R2062:Dis3l UTSW 9 64,246,855 (GRCm39) missense probably benign 0.02
R2152:Dis3l UTSW 9 64,214,545 (GRCm39) missense probably benign 0.00
R2153:Dis3l UTSW 9 64,214,545 (GRCm39) missense probably benign 0.00
R2154:Dis3l UTSW 9 64,214,545 (GRCm39) missense probably benign 0.00
R2186:Dis3l UTSW 9 64,246,894 (GRCm39) nonsense probably null
R2271:Dis3l UTSW 9 64,238,165 (GRCm39) missense probably damaging 0.96
R2280:Dis3l UTSW 9 64,225,076 (GRCm39) missense possibly damaging 0.70
R2287:Dis3l UTSW 9 64,214,779 (GRCm39) missense probably benign 0.20
R3156:Dis3l UTSW 9 64,219,032 (GRCm39) missense probably benign 0.25
R4664:Dis3l UTSW 9 64,238,080 (GRCm39) missense unknown
R4775:Dis3l UTSW 9 64,238,190 (GRCm39) missense probably benign 0.16
R4977:Dis3l UTSW 9 64,214,483 (GRCm39) missense probably benign 0.00
R4997:Dis3l UTSW 9 64,219,224 (GRCm39) missense possibly damaging 0.76
R5097:Dis3l UTSW 9 64,226,498 (GRCm39) missense probably damaging 1.00
R5579:Dis3l UTSW 9 64,238,117 (GRCm39) missense probably benign 0.44
R5623:Dis3l UTSW 9 64,214,885 (GRCm39) missense possibly damaging 0.70
R6310:Dis3l UTSW 9 64,229,857 (GRCm39) missense probably benign 0.00
R6442:Dis3l UTSW 9 64,214,837 (GRCm39) missense probably benign
R6505:Dis3l UTSW 9 64,214,795 (GRCm39) missense probably benign 0.15
R6731:Dis3l UTSW 9 64,217,720 (GRCm39) splice site probably null
R7405:Dis3l UTSW 9 64,221,986 (GRCm39) missense probably damaging 1.00
R7555:Dis3l UTSW 9 64,219,219 (GRCm39) nonsense probably null
R7798:Dis3l UTSW 9 64,248,299 (GRCm39) missense probably benign
R7890:Dis3l UTSW 9 64,229,753 (GRCm39) missense probably benign 0.00
R8329:Dis3l UTSW 9 64,219,112 (GRCm39) missense possibly damaging 0.50
R8715:Dis3l UTSW 9 64,214,342 (GRCm39) missense probably benign
R8942:Dis3l UTSW 9 64,214,875 (GRCm39) missense probably benign 0.22
R8973:Dis3l UTSW 9 64,246,824 (GRCm39) missense probably damaging 0.96
R9189:Dis3l UTSW 9 64,217,731 (GRCm39) missense probably benign 0.21
R9240:Dis3l UTSW 9 64,217,447 (GRCm39) critical splice donor site probably null
R9354:Dis3l UTSW 9 64,221,922 (GRCm39) missense probably benign 0.01
R9394:Dis3l UTSW 9 64,225,017 (GRCm39) missense probably benign 0.24
R9569:Dis3l UTSW 9 64,236,829 (GRCm39) missense unknown
X0020:Dis3l UTSW 9 64,233,016 (GRCm39) missense probably damaging 1.00
X0065:Dis3l UTSW 9 64,214,336 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCCATTAATAGCCGATGTAC -3'
(R):5'- AACCCAGTAGTGTCACTTGTAAATGG -3'

Sequencing Primer
(F):5'- AGCCGATGTACTACAATATCTGAG -3'
(R):5'- ACTTGTAAATGGCCTCTCGGGAC -3'
Posted On 2019-05-13