Incidental Mutation 'IGL01757:Isg15'
ID 153207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isg15
Ensembl Gene ENSMUSG00000035692
Gene Name ISG15 ubiquitin-like modifier
Synonyms G1p2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01757
Quality Score
Status
Chromosome 4
Chromosomal Location 156199424-156200818 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156199844 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 76 (C76R)
Ref Sequence ENSEMBL: ENSMUSP00000082548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085425] [ENSMUST00000105140] [ENSMUST00000180572]
AlphaFold Q64339
Predicted Effect probably damaging
Transcript: ENSMUST00000085425
AA Change: C76R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082548
Gene: ENSMUSG00000035692
AA Change: C76R

DomainStartEndE-ValueType
UBQ 3 74 8.2e-24 SMART
UBQ 80 151 2.93e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105140
SMART Domains Protein: ENSMUSP00000100772
Gene: ENSMUSG00000078349

DomainStartEndE-ValueType
low complexity region 95 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180572
SMART Domains Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NtA 32 159 5.1e-91 PFAM
FOLN 173 198 8.25e-6 SMART
KAZAL 198 244 1.22e-17 SMART
FOLN 249 273 7.58e-5 SMART
EGF_like 249 288 7.38e1 SMART
KAZAL 273 319 1.51e-13 SMART
KAZAL 348 391 1.8e-6 SMART
KAZAL 417 463 1.55e-10 SMART
FOLN 469 491 8.25e-6 SMART
KAZAL 491 536 1.14e-17 SMART
KAZAL 556 601 6.43e-17 SMART
FOLN 603 626 2.94e-2 SMART
KAZAL 614 666 8.96e-16 SMART
low complexity region 672 679 N/A INTRINSIC
KAZAL 706 752 1.12e-16 SMART
EGF_Lam 795 846 3.29e-15 SMART
EGF_Lam 849 893 6.7e-7 SMART
FOLN 902 924 1.94e-2 SMART
KAZAL 924 971 3.9e-16 SMART
low complexity region 996 1013 N/A INTRINSIC
low complexity region 1056 1085 N/A INTRINSIC
SEA 1121 1243 2.26e-35 SMART
low complexity region 1249 1276 N/A INTRINSIC
low complexity region 1290 1305 N/A INTRINSIC
EGF 1321 1356 1.49e-4 SMART
LamG 1381 1517 4e-45 SMART
EGF 1541 1575 2.23e-3 SMART
EGF 1580 1614 7.13e-2 SMART
LamG 1649 1785 6.51e-36 SMART
EGF 1806 1842 4.35e-6 SMART
LamG 1878 2014 5.01e-37 SMART
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 a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mice are viable and fertile and do not display immunological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Chic2 T C 5: 75,006,767 probably benign Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Eif2b1 T C 5: 124,573,140 K189E probably benign Het
Fgf17 A T 14: 70,636,980 L123Q probably damaging Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc46 T C 11: 97,035,875 Y154C probably damaging Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Tfap2d A G 1: 19,104,580 T86A probably benign Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Isg15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03280:Isg15 APN 4 156199862 missense probably benign 0.02
R0787:Isg15 UTSW 4 156199939 missense probably benign 0.19
R1703:Isg15 UTSW 4 156199808 missense possibly damaging 0.89
R1714:Isg15 UTSW 4 156199957 missense probably damaging 1.00
R1757:Isg15 UTSW 4 156199990 missense possibly damaging 0.52
R1984:Isg15 UTSW 4 156199793 missense probably benign 0.00
R2044:Isg15 UTSW 4 156199792 missense probably benign 0.43
R2431:Isg15 UTSW 4 156200701 splice site probably null
R4738:Isg15 UTSW 4 156199862 missense probably benign 0.02
R4911:Isg15 UTSW 4 156199760 missense probably benign 0.00
R4997:Isg15 UTSW 4 156199697 missense possibly damaging 0.58
R5692:Isg15 UTSW 4 156199822 missense probably damaging 1.00
R7504:Isg15 UTSW 4 156200045 missense probably damaging 1.00
R8338:Isg15 UTSW 4 156199631 missense probably benign 0.00
Posted On 2014-02-04