Incidental Mutation 'IGL00401:Usp46'
ID |
5615 |
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 # |
IGL00401
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 74163832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 302
(V302F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
|
AlphaFold |
P62069 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068058
AA Change: V302F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070554 Gene: ENSMUSG00000054814 AA Change: V302F
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 damaging
Transcript: ENSMUST00000119154
AA Change: V275F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114060 Gene: ENSMUSG00000054814 AA Change: V275F
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
Dapk2 |
G |
T |
9: 66,176,060 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
Foxq1 |
A |
T |
13: 31,743,260 (GRCm39) |
I121F |
probably damaging |
Het |
Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
C |
11: 77,389,782 (GRCm39) |
|
probably benign |
Het |
Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
Kptn |
A |
G |
7: 15,854,050 (GRCm39) |
D56G |
possibly damaging |
Het |
Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
Mettl3 |
T |
A |
14: 52,534,424 (GRCm39) |
|
probably benign |
Het |
Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
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 |
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 |
2012-04-20 |