Incidental Mutation 'IGL01680:Isg20'
ID103780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isg20
Ensembl Gene ENSMUSG00000039236
Gene Nameinterferon-stimulated protein
Synonyms1600023I01Rik, 20kDa, DnaQl, 2010107M23Rik, HEM45
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01680
Quality Score
Status
Chromosome7
Chromosomal Location78913424-78920396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78916585 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000145840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038142] [ENSMUST00000118867] [ENSMUST00000120331] [ENSMUST00000121645] [ENSMUST00000205981]
Predicted Effect probably damaging
Transcript: ENSMUST00000038142
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040080
Gene: ENSMUSG00000039236
AA Change: D94G

DomainStartEndE-ValueType
EXOIII 6 171 6.23e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118867
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112480
Gene: ENSMUSG00000039236
AA Change: D94G

DomainStartEndE-ValueType
EXOIII 6 171 6.23e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120331
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113255
Gene: ENSMUSG00000039236
AA Change: D94G

DomainStartEndE-ValueType
EXOIII 6 171 6.23e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121645
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112621
Gene: ENSMUSG00000039236
AA Change: D94G

DomainStartEndE-ValueType
EXOIII 6 176 8.25e-29 SMART
low complexity region 182 201 N/A INTRINSIC
low complexity region 208 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133042
Predicted Effect probably damaging
Transcript: ENSMUST00000205981
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,402,620 W121R unknown Het
Adprh C T 16: 38,450,216 G76S possibly damaging Het
Arhgap31 T C 16: 38,603,614 T697A probably benign Het
Ces2f T C 8: 104,954,073 M489T probably benign Het
Clec5a A G 6: 40,584,380 Y44H probably benign Het
Csmd3 T C 15: 47,970,030 H950R probably damaging Het
Dgkz G T 2: 91,935,865 P784T probably benign Het
Dok1 T C 6: 83,031,312 D463G possibly damaging Het
Eif4a2 C A 16: 23,109,191 Q94K probably benign Het
Epg5 T C 18: 78,012,741 L1710P probably damaging Het
Fam45a A G 19: 60,817,534 T86A possibly damaging Het
Fign A G 2: 63,978,644 probably benign Het
Gbp10 T C 5: 105,224,271 probably null Het
Gga2 G T 7: 121,998,076 D363E probably benign Het
Glis2 T A 16: 4,611,331 F133I possibly damaging Het
Kif23 T C 9: 61,931,814 D319G probably benign Het
Lbr C A 1: 181,836,194 R87L probably damaging Het
Map3k9 T C 12: 81,724,739 T715A probably benign Het
Mapk14 T C 17: 28,725,846 probably null Het
Mpp4 A C 1: 59,130,067 C341W probably benign Het
Mroh9 C T 1: 163,047,982 probably null Het
Myo16 T C 8: 10,272,630 V20A probably damaging Het
Olfr1120 T C 2: 87,357,905 S154P probably damaging Het
Olfr371 A T 8: 85,230,679 L61F probably benign Het
Olfr551 A T 7: 102,588,229 C171* probably null Het
Pofut2 C T 10: 77,263,293 R186W probably damaging Het
Ppp1r1b T A 11: 98,350,566 probably null Het
Slc34a2 A G 5: 53,060,876 I166V probably damaging Het
Slc4a2 A G 5: 24,432,930 T375A probably benign Het
Slitrk5 C A 14: 111,679,000 H19N probably benign Het
Sptb T A 12: 76,630,682 Q126L probably damaging Het
Stoml1 T C 9: 58,256,713 V105A probably damaging Het
Stt3b C A 9: 115,246,261 probably benign Het
Thbs4 T C 13: 92,776,980 E144G probably benign Het
Tns3 A G 11: 8,548,937 Y49H probably damaging Het
Vmn2r87 C T 10: 130,479,717 W160* probably null Het
Zfp647 T A 15: 76,917,768 probably benign Het
Other mutations in Isg20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Isg20 APN 7 78916584 missense probably damaging 1.00
IGL01399:Isg20 APN 7 78920088 missense possibly damaging 0.92
IGL01769:Isg20 APN 7 78914381 missense probably damaging 1.00
R0233:Isg20 UTSW 7 78914495 missense probably damaging 0.99
R0233:Isg20 UTSW 7 78916586 missense probably damaging 1.00
R0233:Isg20 UTSW 7 78914495 missense probably damaging 0.99
R0233:Isg20 UTSW 7 78916586 missense probably damaging 1.00
R0400:Isg20 UTSW 7 78916725 missense possibly damaging 0.89
R1562:Isg20 UTSW 7 78920143 missense probably benign 0.17
R1610:Isg20 UTSW 7 78914509 missense possibly damaging 0.48
R1894:Isg20 UTSW 7 78919899 missense probably benign 0.01
R2033:Isg20 UTSW 7 78916533 missense probably damaging 0.98
R2992:Isg20 UTSW 7 78919884 missense probably benign 0.10
R3159:Isg20 UTSW 7 78914453 missense possibly damaging 0.62
R4678:Isg20 UTSW 7 78914328 unclassified probably benign
R5787:Isg20 UTSW 7 78919810 missense probably benign 0.04
Posted On2014-01-21