Incidental Mutation 'IGL00160:Usp46'
| ID |
1648 |
| 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: 0.186)
|
| Stock # |
IGL00160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74163347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 333
(E333G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
|
| AlphaFold |
P62069 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068058
AA Change: E333G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: E333G
| 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 null
Transcript: ENSMUST00000119154
AA Change: E306G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
AA Change: E306G
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
| Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
| Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
| Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,676,605 (GRCm39) |
N100Y |
probably damaging |
Het |
| Ces2f |
A |
T |
8: 105,676,604 (GRCm39) |
Q99H |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,893,189 (GRCm39) |
D322G |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
| Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
| N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
| Snrnp70 |
A |
G |
7: 45,026,778 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
| Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
T |
C |
2: 21,217,260 (GRCm39) |
F338S |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
| Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
| Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
| Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,039 (GRCm39) |
H108R |
probably damaging |
Het |
|
| Other mutations in Usp46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02833:Usp46
|
APN |
5 |
74,177,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2011-07-12 |
Incidental Mutation