Incidental Mutation 'R1541:Dis3l'
ID 171742
Institutional Source Beutler Lab
Gene Symbol Dis3l
Ensembl Gene ENSMUSG00000032396
Gene Name DIS3 like exosome 3'-5' exoribonuclease
Synonyms
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64214038-64248570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64214771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 933 (I933V)
Ref Sequence ENSEMBL: ENSMUSP00000129772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844] [ENSMUST00000216594]
AlphaFold Q8C0S1
Predicted Effect probably benign
Transcript: ENSMUST00000034964
SMART Domains Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397

DomainStartEndE-ValueType
low complexity region 19 43 N/A INTRINSIC
Pfam:Swi3 63 143 2.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068367
AA Change: I850V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: I850V

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113890
AA Change: I850V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: I850V

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120760
AA Change: I850V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: I850V

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168844
AA Change: I933V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: I933V

DomainStartEndE-ValueType
low complexity region 208 220 N/A INTRINSIC
RNB 465 817 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216594
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging 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
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
R7008:Dis3l UTSW 9 64,217,735 (GRCm39) missense possibly damaging 0.96
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'- GGCCTGGACAGAAATTCTTACCTGG -3'
(R):5'- GGAGTGCTGGATTTGATCCCCATC -3'

Sequencing Primer
(F):5'- GAAATTCTTACCTGGCACAGAG -3'
(R):5'- agcactcaagaagcaaacac -3'
Posted On 2014-04-13