Incidental Mutation 'IGL01403:Usp18'
| ID |
79708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp18
|
| Ensembl Gene |
ENSMUSG00000030107 |
| Gene Name |
ubiquitin specific peptidase 18 |
| Synonyms |
UBP43, 1110058H21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.551)
|
| Stock # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121222865-121247876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121245627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 334
(H334Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032198]
[ENSMUST00000204710]
|
| AlphaFold |
Q9WTV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032198
AA Change: H334Q
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032198
Gene: ENSMUSG00000030107
AA Change: H334Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
51 |
363 |
3.1e-41 |
PFAM |
|
Pfam:UCH_1
|
52 |
335 |
6.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203718
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204710
AA Change: H40Q
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145285
Gene: ENSMUSG00000030107
AA Change: H40Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH_1
|
1 |
41 |
1.3e-4 |
PFAM |
|
Pfam:UCH
|
1 |
58 |
1.5e-12 |
PFAM |
|
| 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 belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
| Other mutations in Usp18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Usp18
|
APN |
6 |
121,232,341 (GRCm39) |
nonsense |
probably null |
|
|
IGL01411:Usp18
|
APN |
6 |
121,238,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01810:Usp18
|
APN |
6 |
121,230,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Usp18
|
APN |
6 |
121,238,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02613:Usp18
|
APN |
6 |
121,238,049 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0961:Usp18
|
UTSW |
6 |
121,238,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1350:Usp18
|
UTSW |
6 |
121,239,651 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1855:Usp18
|
UTSW |
6 |
121,239,076 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1916:Usp18
|
UTSW |
6 |
121,245,513 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1981:Usp18
|
UTSW |
6 |
121,229,476 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2015:Usp18
|
UTSW |
6 |
121,245,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Usp18
|
UTSW |
6 |
121,238,326 (GRCm39) |
missense |
probably benign |
|
|
R5000:Usp18
|
UTSW |
6 |
121,229,479 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5894:Usp18
|
UTSW |
6 |
121,238,456 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6006:Usp18
|
UTSW |
6 |
121,239,781 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6932:Usp18
|
UTSW |
6 |
121,229,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7357:Usp18
|
UTSW |
6 |
121,230,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8243:Usp18
|
UTSW |
6 |
121,246,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8325:Usp18
|
UTSW |
6 |
121,230,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Usp18
|
UTSW |
6 |
121,229,529 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9578:Usp18
|
UTSW |
6 |
121,239,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Usp18
|
UTSW |
6 |
121,232,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation