Incidental Mutation 'IGL01976:Usp50'
| ID |
182686 |
| 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 # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126602970-126625380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126551386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 31
(E31V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028841]
[ENSMUST00000110416]
[ENSMUST00000136319]
|
| AlphaFold |
Q6P8X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028841
|
| SMART Domains |
Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
6 |
116 |
2.3e-37 |
PFAM |
|
low complexity region
|
119 |
140 |
N/A |
INTRINSIC |
|
RHOD
|
185 |
310 |
3.69e-7 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
657 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
738 |
1068 |
4e-88 |
PFAM |
|
Pfam:UCH_1
|
739 |
1053 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099423
AA Change: E31V
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127386
Gene: ENSMUSG00000027364
AA Change: E31V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_N
|
1 |
59 |
6.2e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110416
|
| SMART Domains |
Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
6 |
127 |
2.5e-36 |
PFAM |
|
low complexity region
|
130 |
151 |
N/A |
INTRINSIC |
|
RHOD
|
196 |
321 |
3.69e-7 |
SMART |
|
low complexity region
|
389 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
478 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
668 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
749 |
1079 |
1.3e-82 |
PFAM |
|
Pfam:UCH_1
|
750 |
1064 |
3.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136319
|
| SMART Domains |
Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
| 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: ENSMUST00000138859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188689
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation