Incidental Mutation 'IGL02400:Usp46'
| ID |
291866 |
| 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 # |
IGL02400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74197713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 26
(H26R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
[ENSMUST00000145016]
|
| AlphaFold |
P62069 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068058
AA Change: H33R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: H33R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
| 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 |
probably benign
Transcript: ENSMUST00000145016
AA Change: H26R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114395
Gene: ENSMUSG00000054814
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
27 |
122 |
4.4e-30 |
PFAM |
|
Pfam:UCH_1
|
28 |
122 |
3.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202793
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,290,644 (GRCm39) |
I128V |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,005 (GRCm39) |
Q674K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,798,849 (GRCm39) |
N851K |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,070 (GRCm39) |
C471R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,276,534 (GRCm39) |
K544M |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,415,393 (GRCm39) |
N385K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,160,589 (GRCm39) |
R1388G |
probably damaging |
Het |
| Gm10720 |
C |
A |
9: 3,016,900 (GRCm39) |
|
probably null |
Het |
| Gm20489 |
A |
T |
X: 100,306,944 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gm5828 |
G |
T |
1: 16,840,042 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaq |
T |
C |
19: 16,293,492 (GRCm39) |
Y145H |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,938 (GRCm39) |
D148G |
probably damaging |
Het |
| Myc |
T |
G |
15: 61,861,760 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,635 (GRCm39) |
V144A |
probably benign |
Het |
| Or5m3b |
A |
T |
2: 85,872,420 (GRCm39) |
I254F |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,752 (GRCm39) |
V212A |
probably damaging |
Het |
| Padi3 |
T |
G |
4: 140,516,179 (GRCm39) |
K567T |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,111,748 (GRCm39) |
T1576A |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,291,728 (GRCm39) |
R1316G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,130 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,609,411 (GRCm39) |
R713* |
probably null |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,276 (GRCm39) |
C42S |
possibly damaging |
Het |
| Tpp1 |
A |
G |
7: 105,396,238 (GRCm39) |
I487T |
possibly damaging |
Het |
| Trim43a |
T |
A |
9: 88,464,165 (GRCm39) |
N25K |
probably benign |
Het |
| Tuft1 |
T |
C |
3: 94,542,809 (GRCm39) |
|
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,261,896 (GRCm39) |
I85N |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation