Incidental Mutation 'R0034:Usp50'
ID |
18613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp50
|
Ensembl Gene |
ENSMUSG00000027364 |
Gene Name |
ubiquitin specific peptidase 50 |
Synonyms |
1700086G18Rik, 4930511O11Rik |
MMRRC Submission |
038328-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0034 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126602970-126625380 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126619895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 139
(E139G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028842]
[ENSMUST00000130356]
[ENSMUST00000136319]
|
AlphaFold |
Q6P8X6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028842
AA Change: E194G
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028842 Gene: ENSMUSG00000027364 AA Change: E194G
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
44 |
360 |
9.2e-67 |
PFAM |
Pfam:UCH_1
|
45 |
342 |
2.8e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130356
AA Change: E133G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116873 Gene: ENSMUSG00000027364 AA Change: E133G
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
8 |
183 |
1.5e-20 |
PFAM |
Pfam:UCH_1
|
22 |
194 |
3.1e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136319
AA Change: E139G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121578 Gene: ENSMUSG00000027364 AA Change: E139G
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
1 |
268 |
1.9e-39 |
PFAM |
Pfam:UCH_1
|
1 |
269 |
1.3e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151140
|
Meta Mutation Damage Score |
0.0683 |
Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
Validation Efficiency |
87% (59/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
Other mutations in Usp50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Usp50
|
APN |
2 |
126,551,334 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01565:Usp50
|
APN |
2 |
126,619,888 (GRCm39) |
nonsense |
probably null |
|
IGL01976:Usp50
|
APN |
2 |
126,551,386 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02192:Usp50
|
APN |
2 |
126,619,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02272:Usp50
|
APN |
2 |
126,611,864 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02892:Usp50
|
APN |
2 |
126,611,822 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Usp50
|
UTSW |
2 |
126,625,236 (GRCm39) |
start gained |
probably benign |
|
R0382:Usp50
|
UTSW |
2 |
126,619,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Usp50
|
UTSW |
2 |
126,603,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R1146:Usp50
|
UTSW |
2 |
126,551,392 (GRCm39) |
missense |
probably benign |
0.02 |
R1457:Usp50
|
UTSW |
2 |
126,603,554 (GRCm39) |
missense |
probably benign |
0.41 |
R1475:Usp50
|
UTSW |
2 |
126,611,787 (GRCm39) |
splice site |
probably null |
|
R1758:Usp50
|
UTSW |
2 |
126,617,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Usp50
|
UTSW |
2 |
126,619,818 (GRCm39) |
critical splice donor site |
probably null |
|
R1940:Usp50
|
UTSW |
2 |
126,619,943 (GRCm39) |
missense |
probably benign |
0.03 |
R1959:Usp50
|
UTSW |
2 |
126,619,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2698:Usp50
|
UTSW |
2 |
126,619,949 (GRCm39) |
missense |
probably damaging |
0.97 |
R4648:Usp50
|
UTSW |
2 |
126,619,953 (GRCm39) |
missense |
probably damaging |
0.98 |
R4809:Usp50
|
UTSW |
2 |
126,619,773 (GRCm39) |
intron |
probably benign |
|
R6247:Usp50
|
UTSW |
2 |
126,617,713 (GRCm39) |
missense |
probably benign |
0.33 |
R7030:Usp50
|
UTSW |
2 |
126,622,395 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7186:Usp50
|
UTSW |
2 |
126,625,218 (GRCm39) |
start gained |
probably benign |
|
R7522:Usp50
|
UTSW |
2 |
126,625,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Usp50
|
UTSW |
2 |
126,622,250 (GRCm39) |
splice site |
probably null |
|
R8856:Usp50
|
UTSW |
2 |
126,622,477 (GRCm39) |
missense |
probably damaging |
0.99 |
R9449:Usp50
|
UTSW |
2 |
126,619,817 (GRCm39) |
critical splice donor site |
probably null |
|
X0064:Usp50
|
UTSW |
2 |
126,603,566 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-03-25 |