Incidental Mutation 'IGL02108:Usp46'
| ID |
280033 |
| 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 # |
IGL02108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74189867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 55
(T55P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
[ENSMUST00000145016]
[ENSMUST00000152408]
|
| AlphaFold |
P62069 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068058
AA Change: T166P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: T166P
| 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: T139P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
AA Change: T139P
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145016
|
| SMART Domains |
Protein: ENSMUSP00000114395
Gene: ENSMUSG00000054814
| 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 |
probably damaging
Transcript: ENSMUST00000152408
AA Change: T55P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144284
Gene: ENSMUSG00000054814
AA Change: T55P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
1 |
132 |
1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180935
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
C |
8: 56,325,346 (GRCm39) |
I369M |
probably damaging |
Het |
| Aff1 |
T |
G |
5: 103,958,975 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,407,827 (GRCm39) |
P2227T |
unknown |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,043,133 (GRCm39) |
|
probably benign |
Het |
| Bptf |
C |
A |
11: 106,965,814 (GRCm39) |
V1012L |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,407,087 (GRCm39) |
F268L |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,555 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccnb1 |
C |
T |
13: 100,917,665 (GRCm39) |
|
probably null |
Het |
| Cdh19 |
G |
T |
1: 110,817,461 (GRCm39) |
S760R |
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,739,519 (GRCm39) |
|
probably null |
Het |
| Chid1 |
A |
T |
7: 141,112,841 (GRCm39) |
M1K |
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,348,143 (GRCm39) |
T208A |
probably benign |
Het |
| Ecm2 |
T |
A |
13: 49,671,920 (GRCm39) |
Y140* |
probably null |
Het |
| Enox2 |
A |
G |
X: 48,102,393 (GRCm39) |
L533S |
possibly damaging |
Het |
| Fntb |
A |
G |
12: 76,934,631 (GRCm39) |
E167G |
possibly damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,461 (GRCm39) |
V92A |
probably benign |
Het |
| Grsf1 |
C |
T |
5: 88,813,762 (GRCm39) |
R329Q |
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,035,249 (GRCm39) |
D370V |
probably benign |
Het |
| H2ac4 |
T |
C |
13: 23,935,207 (GRCm39) |
V31A |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,690,977 (GRCm39) |
Y491F |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,014,530 (GRCm39) |
Q563L |
probably damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,617 (GRCm39) |
L124Q |
probably damaging |
Het |
| Mbl1 |
T |
C |
14: 40,875,608 (GRCm39) |
S21P |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,296,631 (GRCm39) |
|
probably null |
Het |
| Nmur2 |
T |
C |
11: 55,931,190 (GRCm39) |
T174A |
probably benign |
Het |
| Odf1 |
C |
A |
15: 38,226,623 (GRCm39) |
Y174* |
probably null |
Het |
| Optn |
A |
G |
2: 5,036,084 (GRCm39) |
V466A |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,494 (GRCm39) |
D301E |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,234 (GRCm39) |
V40E |
possibly damaging |
Het |
| Or8g54 |
A |
T |
9: 39,706,808 (GRCm39) |
I46F |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,680,667 (GRCm39) |
S316N |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,869,032 (GRCm39) |
I672K |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,044,710 (GRCm39) |
I63F |
probably damaging |
Het |
| Plet1 |
T |
C |
9: 50,410,387 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,822,433 (GRCm39) |
D211V |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,542,494 (GRCm39) |
W384R |
probably damaging |
Het |
| Prdm11 |
T |
C |
2: 92,806,048 (GRCm39) |
I301V |
probably damaging |
Het |
| Prkar1a |
C |
T |
11: 109,558,351 (GRCm39) |
R357C |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,548 (GRCm39) |
T886A |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,260,831 (GRCm39) |
E156V |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,482,478 (GRCm39) |
T1032A |
probably damaging |
Het |
| Rras2 |
A |
G |
7: 113,659,623 (GRCm39) |
I47T |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Sh3rf3 |
T |
A |
10: 58,971,650 (GRCm39) |
V826E |
probably damaging |
Het |
| Tmem127 |
T |
A |
2: 127,099,026 (GRCm39) |
S132T |
probably damaging |
Het |
| Tnrc6c |
C |
A |
11: 117,612,025 (GRCm39) |
P221Q |
probably benign |
Het |
| Tstd3 |
A |
T |
4: 21,759,366 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation