Incidental Mutation 'R4240:Usp46'
ID |
368232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp46
|
Ensembl Gene |
ENSMUSG00000054814 |
Gene Name |
ubiquitin specific peptidase 46 |
Synonyms |
1190009E20Rik, 2410018I08Rik |
MMRRC Submission |
041057-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R4240 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
74159387-74229070 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to G
at 74192928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068058]
[ENSMUST00000119154]
[ENSMUST00000145016]
[ENSMUST00000152408]
|
AlphaFold |
P62069 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068058
|
SMART Domains |
Protein: ENSMUSP00000070554 Gene: ENSMUSG00000054814
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 |
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 benign
Transcript: ENSMUST00000152408
|
SMART Domains |
Protein: ENSMUSP00000144284 Gene: ENSMUSG00000054814
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
1 |
132 |
1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152787
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
93% (50/54) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCGCTCCAGTCCCTGAAATATC -3'
(R):5'- CTGTAACTCCGTGCTTCAAGC -3'
Sequencing Primer
(F):5'- GCTCCAGTCCCTGAAATATCTTTTC -3'
(R):5'- AAGCGCTGTACTTCTGCCG -3'
|
Posted On |
2016-01-07 |