Incidental Mutation 'R9240:Dis3l'
ID 700695
Institutional Source Beutler Lab
Gene Symbol Dis3l
Ensembl Gene ENSMUSG00000032396
Gene Name DIS3 like exosome 3'-5' exoribonuclease
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R9240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64214038-64248570 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 64217447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844] [ENSMUST00000216594]
AlphaFold Q8C0S1
Predicted Effect probably benign
Transcript: ENSMUST00000068367
SMART Domains Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113890
SMART Domains Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120760
SMART Domains Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
RNB 382 734 4.82e-127 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168844
SMART Domains Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,966,406 (GRCm39) I187V probably benign Het
Adam7 C A 14: 68,747,208 (GRCm39) V584L probably benign Het
Arsg T A 11: 109,463,093 (GRCm39) V451E probably benign Het
Btbd8 A G 5: 107,600,034 (GRCm39) D175G probably benign Het
Cacnb3 C T 15: 98,540,486 (GRCm39) P338L probably benign Het
Cars1 G T 7: 143,138,533 (GRCm39) P218Q probably benign Het
Ccdc180 T C 4: 45,917,566 (GRCm39) probably null Het
Cdh23 C T 10: 60,215,044 (GRCm39) D1431N probably benign Het
Cenpf A T 1: 189,389,167 (GRCm39) V1555D probably benign Het
Creb3l2 T C 6: 37,311,506 (GRCm39) N428D possibly damaging Het
Crebbp A T 16: 3,917,537 (GRCm39) probably null Het
Cstf1 C A 2: 172,217,669 (GRCm39) P94Q probably damaging Het
Dlc1 A T 8: 37,052,005 (GRCm39) D124E probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Eea1 T G 10: 95,776,824 (GRCm39) I5S probably benign Het
F7 A T 8: 13,085,173 (GRCm39) T400S probably damaging Het
Fbxo38 C A 18: 62,651,632 (GRCm39) E558* probably null Het
Fcgr2b C T 1: 170,797,042 (GRCm39) probably null Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Flt1 T C 5: 147,618,676 (GRCm39) N220D probably benign Het
Fzd9 A G 5: 135,278,812 (GRCm39) Y358H probably damaging Het
Gcc2 C T 10: 58,106,398 (GRCm39) Q545* probably null Het
Gkn3 T C 6: 87,365,789 (GRCm39) N10S probably benign Het
Gls C G 1: 52,207,553 (GRCm39) V604L probably benign Het
Gtf2i T A 5: 134,292,619 (GRCm39) Q375L probably benign Het
Hells A G 19: 38,935,289 (GRCm39) M320V possibly damaging Het
Ints3 T C 3: 90,310,410 (GRCm39) S497G possibly damaging Het
Iqub C A 6: 24,505,622 (GRCm39) L95F probably benign Het
Mat1a G A 14: 40,827,573 (GRCm39) C9Y probably benign Het
Mfsd4b5 A G 10: 39,851,099 (GRCm39) L103P probably damaging Het
Ms4a14 T C 19: 11,281,864 (GRCm39) I231M possibly damaging Het
Muc16 T C 9: 18,449,309 (GRCm39) T7580A unknown Het
Myb A T 10: 21,016,500 (GRCm39) L670Q probably damaging Het
Nisch A G 14: 30,906,988 (GRCm39) L236P unknown Het
Or5d38 A C 2: 87,955,231 (GRCm39) F33V probably benign Het
Plscr4 A T 9: 92,366,934 (GRCm39) M183L probably benign Het
Polr1a T A 6: 71,940,661 (GRCm39) C998* probably null Het
Prokr2 A T 2: 132,223,377 (GRCm39) V55E possibly damaging Het
Prr12 A T 7: 44,684,075 (GRCm39) V1655E probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rspo1 C T 4: 124,885,132 (GRCm39) L3F probably benign Het
Rtn4rl1 C A 11: 75,156,082 (GRCm39) D171E probably damaging Het
Ryr1 A G 7: 28,743,313 (GRCm39) F3895L probably damaging Het
Scn8a G T 15: 100,915,068 (GRCm39) G1211* probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smarcd3 T A 5: 24,801,831 (GRCm39) M103L probably benign Het
Smg1 A T 7: 117,739,031 (GRCm39) S3458T probably benign Het
Smg6 C T 11: 74,825,884 (GRCm39) R738W probably damaging Het
Spef2 G A 15: 9,578,401 (GRCm39) Q1708* probably null Het
Taf2 A T 15: 54,926,464 (GRCm39) V162E probably null Het
Tbc1d23 A T 16: 57,032,748 (GRCm39) N154K possibly damaging Het
Tbx3 A G 5: 119,818,960 (GRCm39) S532G probably benign Het
Tedc1 T C 12: 113,121,310 (GRCm39) I177T probably benign Het
Tnrc6b G C 15: 80,764,262 (GRCm39) G588A probably damaging Het
Top2a T A 11: 98,901,368 (GRCm39) K519* probably null Het
Trim47 T A 11: 115,999,148 (GRCm39) M243L probably benign Het
Ttn A T 2: 76,641,865 (GRCm39) probably null Het
Uggt1 T C 1: 36,221,696 (GRCm39) E624G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r9 A G 5: 108,996,099 (GRCm39) V183A possibly damaging Het
Zfp212 T A 6: 47,906,032 (GRCm39) V197E 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
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
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'- AGTTGGAAACTCAGCCTGTG -3'
(R):5'- GGGCTGGCCTTAGATAAATACAC -3'

Sequencing Primer
(F):5'- ACTGCTAGGCACGGTGCTTAAG -3'
(R):5'- GCCTTAGATAAATACACCCACTTTAC -3'
Posted On 2022-02-07