Incidental Mutation 'IGL01135:Isg20l2'
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ID50781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isg20l2
Ensembl Gene ENSMUSG00000048039
Gene Nameinterferon stimulated exonuclease gene 20-like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL01135
Quality Score
Status
Chromosome3
Chromosomal Location87930314-87940686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87931761 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 93 (D93V)
Ref Sequence ENSEMBL: ENSMUSP00000059783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005016] [ENSMUST00000055984] [ENSMUST00000160074] [ENSMUST00000160143] [ENSMUST00000160648] [ENSMUST00000164439]
Predicted Effect probably benign
Transcript: ENSMUST00000005016
SMART Domains Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 293 1.5e-29 PFAM
low complexity region 385 402 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000055984
AA Change: D93V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059783
Gene: ENSMUSG00000048039
AA Change: D93V

DomainStartEndE-ValueType
low complexity region 128 145 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
EXOIII 193 359 3.34e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159967
Predicted Effect probably benign
Transcript: ENSMUST00000160074
SMART Domains Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 69 229 1.3e-29 PFAM
low complexity region 321 338 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160143
SMART Domains Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 247 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161471
Predicted Effect probably benign
Transcript: ENSMUST00000164439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168070
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Isg20l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Isg20l2 APN 3 87932087 missense probably damaging 0.99
FR4304:Isg20l2 UTSW 3 87931712 unclassified probably benign
FR4340:Isg20l2 UTSW 3 87931712 nonsense probably null
FR4449:Isg20l2 UTSW 3 87931713 unclassified probably benign
FR4589:Isg20l2 UTSW 3 87931717 unclassified probably benign
FR4976:Isg20l2 UTSW 3 87931715 nonsense probably null
R0331:Isg20l2 UTSW 3 87931785 missense probably damaging 1.00
R0465:Isg20l2 UTSW 3 87931680 missense probably benign 0.01
R1398:Isg20l2 UTSW 3 87938754 missense probably benign 0.34
R1679:Isg20l2 UTSW 3 87932085 missense probably damaging 1.00
R3040:Isg20l2 UTSW 3 87931995 missense probably benign
R4910:Isg20l2 UTSW 3 87939263 missense probably damaging 1.00
R5015:Isg20l2 UTSW 3 87931981 missense possibly damaging 0.52
R5247:Isg20l2 UTSW 3 87931613 missense possibly damaging 0.71
R5591:Isg20l2 UTSW 3 87930424 unclassified probably benign
R6261:Isg20l2 UTSW 3 87932088 missense probably damaging 1.00
R6755:Isg20l2 UTSW 3 87931689 missense probably benign 0.21
R7459:Isg20l2 UTSW 3 87932178 missense possibly damaging 0.76
Posted On2013-06-21