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)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156283912-156285253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156284301 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180572
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
| Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
probably damaging |
Het |
|
| Other mutations in Isg15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03280:Isg15
|
APN |
4 |
156,284,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2014-02-04 |
Incidental Mutation