Incidental Mutation 'IGL01382:Dis3l2'
ID78897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dis3l2
Ensembl Gene ENSMUSG00000053333
Gene NameDIS3 like 3'-5' exoribonuclease 2
Synonyms4930429A22Rik, 8030493P09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL01382
Quality Score
Status
Chromosome1
Chromosomal Location86703808-87050095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86857203 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 272 (D272G)
Ref Sequence ENSEMBL: ENSMUSP00000132673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065694] [ENSMUST00000168237] [ENSMUST00000190618]
Predicted Effect probably benign
Transcript: ENSMUST00000065694
AA Change: D258G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: D258G

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: D272G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: D272G

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 noncoding transcript
Transcript: ENSMUST00000186682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189044
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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,472,251 R393L probably benign Het
Arhgap21 G T 2: 20,855,700 P1128T probably damaging Het
Atp12a T G 14: 56,379,955 C567W probably damaging Het
Bcat2 C A 7: 45,588,260 R312S probably damaging Het
Cacna1g T A 11: 94,465,858 T151S probably damaging Het
Chid1 G A 7: 141,530,253 T53M probably damaging Het
Ephx4 A G 5: 107,429,719 E303G probably damaging Het
Fam189b T C 3: 89,188,426 S596P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm9843 A T 16: 76,403,572 noncoding transcript Het
Gnb1l T C 16: 18,544,200 F11S probably damaging Het
Ipmk C T 10: 71,376,766 T186M probably damaging Het
Jph1 T C 1: 17,016,156 T381A probably damaging Het
Kbtbd8 T A 6: 95,122,230 I163K probably damaging Het
Kif18a T A 2: 109,296,766 Y348* probably null Het
Lrrc37a T A 11: 103,498,755 D1948V probably damaging Het
Mc4r A G 18: 66,859,793 I83T probably damaging Het
Myh8 A T 11: 67,301,973 E1530V probably damaging Het
Naip6 C T 13: 100,299,856 E720K possibly damaging Het
Ncor2 T A 5: 125,055,773 Q50L probably damaging Het
Olfr1411 A G 1: 92,597,200 Y227C possibly damaging Het
Olfr495 G A 7: 108,395,245 V42M probably benign Het
Plxnd1 A T 6: 115,960,527 M1575K probably damaging Het
Ptprg T G 14: 12,237,797 M643R probably benign Het
Reck T A 4: 43,940,662 C824S probably damaging Het
Rpgrip1 C T 14: 52,145,477 T689I possibly damaging Het
Ruvbl2 A T 7: 45,422,737 S358T probably benign Het
Sec14l3 G T 11: 4,068,104 C128F probably damaging Het
Serpinf2 C T 11: 75,438,037 probably benign Het
Sez6l C T 5: 112,425,621 V842I probably benign Het
Tm6sf2 A G 8: 70,078,368 Y257C probably damaging Het
Tmpo T C 10: 91,166,050 D99G probably damaging Het
Tulp3 A C 6: 128,325,070 N329K probably damaging Het
Vmn1r7 T A 6: 57,024,723 D184V probably damaging Het
Vmn2r24 A G 6: 123,786,979 T272A possibly damaging Het
Vmn2r93 T A 17: 18,313,316 L494* probably null Het
Wdr18 T C 10: 79,965,272 L173P probably damaging Het
Zfp663 T A 2: 165,359,015 Y33F probably damaging Het
Zmiz2 T A 11: 6,403,781 probably null Het
Other mutations in Dis3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Dis3l2 APN 1 86745487 missense probably benign 0.04
IGL02233:Dis3l2 APN 1 86990231 missense probably damaging 1.00
IGL02698:Dis3l2 APN 1 87048829 splice site probably benign
R0514:Dis3l2 UTSW 1 87047092 missense probably damaging 1.00
R0893:Dis3l2 UTSW 1 87044206 splice site probably null
R1086:Dis3l2 UTSW 1 86990149 missense probably benign 0.36
R1140:Dis3l2 UTSW 1 86821438 missense probably benign 0.00
R1509:Dis3l2 UTSW 1 87021086 missense possibly damaging 0.91
R2029:Dis3l2 UTSW 1 86854467 splice site probably benign
R2511:Dis3l2 UTSW 1 86990258 missense probably benign 0.05
R3772:Dis3l2 UTSW 1 86854408 missense probably benign
R4163:Dis3l2 UTSW 1 86821237 missense probably benign 0.00
R4547:Dis3l2 UTSW 1 87049671 missense probably benign 0.00
R4548:Dis3l2 UTSW 1 87049671 missense probably benign 0.00
R4650:Dis3l2 UTSW 1 86990321 missense possibly damaging 0.83
R4810:Dis3l2 UTSW 1 87047574 missense probably damaging 0.99
R4936:Dis3l2 UTSW 1 87044168 missense probably benign 0.00
R5010:Dis3l2 UTSW 1 86760321 missense probably benign 0.21
R5040:Dis3l2 UTSW 1 86857337 missense probably damaging 0.98
R5272:Dis3l2 UTSW 1 86973404 missense possibly damaging 0.72
R5500:Dis3l2 UTSW 1 87021119 critical splice donor site probably null
R5556:Dis3l2 UTSW 1 86973404 missense possibly damaging 0.72
R5772:Dis3l2 UTSW 1 86878432 missense probably damaging 1.00
R5808:Dis3l2 UTSW 1 87049638 missense possibly damaging 0.94
R5950:Dis3l2 UTSW 1 87021108 missense probably damaging 0.96
R6328:Dis3l2 UTSW 1 86854431 missense probably benign 0.05
R6553:Dis3l2 UTSW 1 86745494 missense probably damaging 1.00
R6585:Dis3l2 UTSW 1 86745494 missense probably damaging 1.00
R6905:Dis3l2 UTSW 1 87044839 missense probably benign 0.00
R6921:Dis3l2 UTSW 1 86857341 missense probably benign
R7162:Dis3l2 UTSW 1 87044030 missense possibly damaging 0.94
R7270:Dis3l2 UTSW 1 86990303 missense possibly damaging 0.49
R7438:Dis3l2 UTSW 1 86745500 critical splice donor site probably null
X0027:Dis3l2 UTSW 1 86760351 missense possibly damaging 0.93
Posted On2013-11-05