Incidental Mutation 'IGL03280:Isg15'
ID 415569
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 # IGL03280
Quality Score
Status
Chromosome 4
Chromosomal Location 156283912-156285253 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156284319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 70 (M70V)
Ref Sequence ENSEMBL: ENSMUSP00000082548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085425] [ENSMUST00000105140] [ENSMUST00000180572]
AlphaFold Q64339
Predicted Effect probably benign
Transcript: ENSMUST00000085425
AA Change: M70V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000082548
Gene: ENSMUSG00000035692
AA Change: M70V

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 (GRCm39) S188P probably benign Het
Bbs5 A G 2: 69,497,315 (GRCm39) probably benign Het
Cdh13 G T 8: 120,040,873 (GRCm39) G693W probably damaging Het
Cdh20 T A 1: 110,036,498 (GRCm39) Y559* probably null Het
Cemip G A 7: 83,636,538 (GRCm39) probably benign Het
Crem A G 18: 3,273,415 (GRCm39) probably benign Het
Crygf A G 1: 65,967,329 (GRCm39) Y151C probably damaging Het
Dcp1b T C 6: 119,157,019 (GRCm39) probably benign Het
Fanca A G 8: 124,043,198 (GRCm39) probably benign Het
Fkbp15 A C 4: 62,221,504 (GRCm39) probably benign Het
Gabrp C T 11: 33,502,616 (GRCm39) R416Q probably benign Het
Iho1 T C 9: 108,282,099 (GRCm39) S530G possibly damaging Het
Impg2 T A 16: 56,088,631 (GRCm39) Y1052* probably null Het
Krit1 T A 5: 3,861,248 (GRCm39) probably benign Het
Lrrn3 T C 12: 41,504,146 (GRCm39) D57G probably damaging Het
Macrod1 A G 19: 7,174,937 (GRCm39) E309G possibly damaging Het
Notch1 A T 2: 26,367,886 (GRCm39) probably benign Het
Nptx1 T C 11: 119,435,555 (GRCm39) T254A probably damaging Het
Or12e9 A T 2: 87,202,467 (GRCm39) D197V probably damaging Het
Pigm A G 1: 172,204,420 (GRCm39) Y52C probably damaging Het
Pramel27 A T 4: 143,578,489 (GRCm39) T250S possibly damaging Het
Rif1 A G 2: 52,002,611 (GRCm39) T2022A probably benign Het
Rint1 T A 5: 24,022,076 (GRCm39) L646Q probably damaging Het
Rpe65 A T 3: 159,309,978 (GRCm39) I84F probably damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Scnn1a T C 6: 125,319,744 (GRCm39) probably benign Het
Selenop T C 15: 3,310,104 (GRCm39) probably benign Het
Siglecf T G 7: 43,005,354 (GRCm39) V438G probably benign Het
St8sia4 T A 1: 95,581,499 (GRCm39) probably benign Het
Tfeb T C 17: 48,096,862 (GRCm39) F43S probably benign Het
Tgm6 A G 2: 129,980,851 (GRCm39) Y216C probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A T 2: 76,728,811 (GRCm39) C1234* probably null Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Usp24 T G 4: 106,237,627 (GRCm39) I1095R probably damaging Het
Usp34 C T 11: 23,304,897 (GRCm39) H377Y probably damaging Het
Other mutations in Isg15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Isg15 APN 4 156,284,301 (GRCm39) missense probably damaging 1.00
R0787:Isg15 UTSW 4 156,284,396 (GRCm39) missense probably benign 0.19
R1703:Isg15 UTSW 4 156,284,265 (GRCm39) missense possibly damaging 0.89
R1714:Isg15 UTSW 4 156,284,414 (GRCm39) missense probably damaging 1.00
R1757:Isg15 UTSW 4 156,284,447 (GRCm39) missense possibly damaging 0.52
R1984:Isg15 UTSW 4 156,284,250 (GRCm39) missense probably benign 0.00
R2044:Isg15 UTSW 4 156,284,249 (GRCm39) missense probably benign 0.43
R2431:Isg15 UTSW 4 156,285,158 (GRCm39) splice site probably null
R4738:Isg15 UTSW 4 156,284,319 (GRCm39) missense probably benign 0.02
R4911:Isg15 UTSW 4 156,284,217 (GRCm39) missense probably benign 0.00
R4997:Isg15 UTSW 4 156,284,154 (GRCm39) missense possibly damaging 0.58
R5692:Isg15 UTSW 4 156,284,279 (GRCm39) missense probably damaging 1.00
R7504:Isg15 UTSW 4 156,284,502 (GRCm39) missense probably damaging 1.00
R8338:Isg15 UTSW 4 156,284,088 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02