Incidental Mutation 'IGL01565:Usp50'
| ID |
90969 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp50
|
| Ensembl Gene |
ENSMUSG00000027364 |
| Gene Name |
ubiquitin specific peptidase 50 |
| Synonyms |
1700086G18Rik, 4930511O11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126602970-126625380 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 126619888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 141
(C141*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028842]
[ENSMUST00000130356]
[ENSMUST00000136319]
|
| AlphaFold |
Q6P8X6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028842
AA Change: C196*
|
| SMART Domains |
Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: C196*
| 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 null
Transcript: ENSMUST00000130356
AA Change: C135*
|
| SMART Domains |
Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: C135*
| 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 |
probably null
Transcript: ENSMUST00000136319
AA Change: C141*
|
| SMART Domains |
Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: C141*
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
|
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 |
|
|
R0034:Usp50
|
UTSW |
2 |
126,619,895 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2013-12-09 |
Incidental Mutation