Incidental Mutation 'IGL02833:Usp46'
ID |
361532 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp46
|
Ensembl Gene |
ENSMUSG00000054814 |
Gene Name |
ubiquitin specific peptidase 46 |
Synonyms |
1190009E20Rik, 2410018I08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
IGL02833
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74177343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 179
(T179S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
|
AlphaFold |
P62069 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068058
AA Change: T206S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000070554 Gene: ENSMUSG00000054814 AA Change: T206S
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
34 |
362 |
6.8e-67 |
PFAM |
Pfam:UCH_1
|
35 |
335 |
1.5e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119154
AA Change: T179S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000114060 Gene: ENSMUSG00000054814 AA Change: T179S
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
9 |
335 |
4.1e-67 |
PFAM |
Pfam:UCH_1
|
11 |
308 |
2.9e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128750
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129275
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009] PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced depression-related behaviors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
A |
G |
5: 137,289,371 (GRCm39) |
|
probably benign |
Het |
Atr |
A |
T |
9: 95,744,905 (GRCm39) |
H74L |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,465,255 (GRCm39) |
H1673L |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,853,771 (GRCm39) |
I495K |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 135,998,743 (GRCm39) |
I213F |
probably benign |
Het |
Cds1 |
T |
C |
5: 101,962,332 (GRCm39) |
S316P |
possibly damaging |
Het |
Ces1b |
G |
A |
8: 93,806,038 (GRCm39) |
P68S |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,185,206 (GRCm39) |
I434V |
probably benign |
Het |
Csgalnact2 |
A |
G |
6: 118,106,229 (GRCm39) |
Y30H |
probably damaging |
Het |
Defb7 |
T |
C |
8: 19,545,140 (GRCm39) |
V6A |
probably benign |
Het |
Dlg2 |
A |
T |
7: 92,080,335 (GRCm39) |
L841F |
probably damaging |
Het |
Dnajc14 |
A |
G |
10: 128,642,468 (GRCm39) |
N130S |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,833,732 (GRCm39) |
D1863V |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,376,897 (GRCm39) |
R1561G |
possibly damaging |
Het |
Fads2b |
G |
T |
2: 85,332,551 (GRCm39) |
R158S |
possibly damaging |
Het |
Gstt4 |
G |
T |
10: 75,658,174 (GRCm39) |
F28L |
probably damaging |
Het |
Hectd1 |
G |
T |
12: 51,810,864 (GRCm39) |
D1690E |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,282,441 (GRCm39) |
S3394P |
probably benign |
Het |
Ift25 |
T |
C |
4: 107,132,492 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,911,610 (GRCm39) |
C1910S |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,708,516 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
T |
7: 125,449,584 (GRCm39) |
R883* |
probably null |
Het |
Kif1b |
C |
T |
4: 149,330,821 (GRCm39) |
V612M |
probably damaging |
Het |
Lrrd1 |
A |
G |
5: 3,900,709 (GRCm39) |
E338G |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,791,723 (GRCm39) |
D205E |
probably damaging |
Het |
Mylk |
A |
T |
16: 34,735,270 (GRCm39) |
H750L |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,436,121 (GRCm39) |
S801P |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,051,998 (GRCm39) |
M980K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,146,831 (GRCm39) |
V314I |
probably benign |
Het |
Or2y3 |
T |
C |
17: 38,393,243 (GRCm39) |
K209E |
possibly damaging |
Het |
Or5d43 |
C |
A |
2: 88,104,776 (GRCm39) |
V206F |
probably benign |
Het |
Or6c88 |
A |
G |
10: 129,406,619 (GRCm39) |
T32A |
probably benign |
Het |
Pdk1 |
A |
G |
2: 71,727,989 (GRCm39) |
|
probably null |
Het |
Pex7 |
A |
G |
10: 19,770,500 (GRCm39) |
S125P |
probably damaging |
Het |
Pigu |
T |
C |
2: 155,187,565 (GRCm39) |
|
probably benign |
Het |
Prr16 |
T |
A |
18: 51,436,164 (GRCm39) |
H214Q |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,800,715 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,538,609 (GRCm39) |
|
probably null |
Het |
Sp4 |
T |
C |
12: 118,225,616 (GRCm39) |
I583V |
probably benign |
Het |
Spata22 |
A |
G |
11: 73,234,569 (GRCm39) |
T224A |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tmem119 |
T |
A |
5: 113,933,432 (GRCm39) |
Y123F |
probably damaging |
Het |
Umps |
A |
T |
16: 33,782,523 (GRCm39) |
L133* |
probably null |
Het |
Vtcn1 |
T |
A |
3: 100,795,701 (GRCm39) |
Y223N |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,576,853 (GRCm39) |
M567T |
probably damaging |
Het |
|
Other mutations in Usp46 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Usp46
|
APN |
5 |
74,163,347 (GRCm39) |
missense |
probably null |
0.03 |
IGL00401:Usp46
|
APN |
5 |
74,163,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00949:Usp46
|
APN |
5 |
74,163,903 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02108:Usp46
|
APN |
5 |
74,189,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02325:Usp46
|
APN |
5 |
74,197,689 (GRCm39) |
splice site |
probably null |
|
IGL02383:Usp46
|
APN |
5 |
74,190,014 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02400:Usp46
|
APN |
5 |
74,197,713 (GRCm39) |
missense |
probably benign |
0.00 |
R0091:Usp46
|
UTSW |
5 |
74,163,918 (GRCm39) |
missense |
probably benign |
0.25 |
R1186:Usp46
|
UTSW |
5 |
74,162,783 (GRCm39) |
missense |
probably benign |
0.01 |
R1714:Usp46
|
UTSW |
5 |
74,163,828 (GRCm39) |
missense |
probably benign |
0.35 |
R4023:Usp46
|
UTSW |
5 |
74,193,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4051:Usp46
|
UTSW |
5 |
74,163,416 (GRCm39) |
missense |
probably benign |
0.01 |
R4239:Usp46
|
UTSW |
5 |
74,192,928 (GRCm39) |
unclassified |
probably benign |
|
R4240:Usp46
|
UTSW |
5 |
74,192,928 (GRCm39) |
unclassified |
probably benign |
|
R5542:Usp46
|
UTSW |
5 |
74,189,902 (GRCm39) |
missense |
probably benign |
0.03 |
R5907:Usp46
|
UTSW |
5 |
74,197,746 (GRCm39) |
missense |
probably benign |
0.05 |
R6442:Usp46
|
UTSW |
5 |
74,177,377 (GRCm39) |
missense |
probably benign |
0.01 |
R6770:Usp46
|
UTSW |
5 |
74,193,015 (GRCm39) |
missense |
probably benign |
0.00 |
R6856:Usp46
|
UTSW |
5 |
74,189,595 (GRCm39) |
unclassified |
probably benign |
|
R7080:Usp46
|
UTSW |
5 |
74,177,344 (GRCm39) |
missense |
probably benign |
0.31 |
R7430:Usp46
|
UTSW |
5 |
74,163,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Usp46
|
UTSW |
5 |
74,189,598 (GRCm39) |
nonsense |
probably null |
|
R7782:Usp46
|
UTSW |
5 |
74,162,772 (GRCm39) |
missense |
probably benign |
0.00 |
R8171:Usp46
|
UTSW |
5 |
74,163,354 (GRCm39) |
missense |
probably benign |
0.04 |
R8695:Usp46
|
UTSW |
5 |
74,189,897 (GRCm39) |
missense |
probably benign |
0.01 |
R9262:Usp46
|
UTSW |
5 |
74,189,965 (GRCm39) |
missense |
probably benign |
0.07 |
R9302:Usp46
|
UTSW |
5 |
74,163,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-12-18 |