Incidental Mutation 'IGL02000:Usp10'
| ID |
183026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp10
|
| Ensembl Gene |
ENSMUSG00000031826 |
| Gene Name |
ubiquitin specific peptidase 10 |
| Synonyms |
2610014N07Rik, Uchrp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120675480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 63
(Y63N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108982]
[ENSMUST00000108988]
[ENSMUST00000127664]
[ENSMUST00000144458]
|
| AlphaFold |
P52479 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108982
AA Change: Y63N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: Y63N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
9 |
113 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108988
AA Change: Y499N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: Y499N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
155 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
408 |
786 |
9.3e-48 |
PFAM |
|
Pfam:UCH_1
|
409 |
764 |
4.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134729
|
| SMART Domains |
Protein: ENSMUSP00000134182
Gene: ENSMUSG00000031826
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137310
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144458
AA Change: Y500N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: Y500N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAM2
|
78 |
95 |
1.1e-7 |
PFAM |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
156 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
409 |
787 |
1.2e-44 |
PFAM |
|
Pfam:UCH_1
|
410 |
765 |
4.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143615
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
| Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
| Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
| Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
| Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
| Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
| Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
| Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
probably damaging |
Het |
|
| Other mutations in Usp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02444:Usp10
|
APN |
8 |
120,675,432 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02487:Usp10
|
APN |
8 |
120,675,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Usp10
|
APN |
8 |
120,675,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Usp10
|
APN |
8 |
120,673,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03003:Usp10
|
APN |
8 |
120,681,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03049:Usp10
|
APN |
8 |
120,683,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4585001:Usp10
|
UTSW |
8 |
120,681,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0090:Usp10
|
UTSW |
8 |
120,679,935 (GRCm39) |
nonsense |
probably null |
|
|
R0329:Usp10
|
UTSW |
8 |
120,663,296 (GRCm39) |
nonsense |
probably null |
|
|
R0550:Usp10
|
UTSW |
8 |
120,674,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2349:Usp10
|
UTSW |
8 |
120,683,448 (GRCm39) |
makesense |
probably null |
|
|
R4345:Usp10
|
UTSW |
8 |
120,681,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Usp10
|
UTSW |
8 |
120,667,930 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5182:Usp10
|
UTSW |
8 |
120,683,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5184:Usp10
|
UTSW |
8 |
120,683,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5461:Usp10
|
UTSW |
8 |
120,683,406 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5749:Usp10
|
UTSW |
8 |
120,667,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5873:Usp10
|
UTSW |
8 |
120,673,831 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5935:Usp10
|
UTSW |
8 |
120,673,828 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6242:Usp10
|
UTSW |
8 |
120,668,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6362:Usp10
|
UTSW |
8 |
120,668,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6608:Usp10
|
UTSW |
8 |
120,675,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6774:Usp10
|
UTSW |
8 |
120,678,711 (GRCm39) |
missense |
probably benign |
|
|
R7148:Usp10
|
UTSW |
8 |
120,663,289 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7164:Usp10
|
UTSW |
8 |
120,668,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Usp10
|
UTSW |
8 |
120,668,283 (GRCm39) |
missense |
probably benign |
|
|
R7310:Usp10
|
UTSW |
8 |
120,668,344 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7792:Usp10
|
UTSW |
8 |
120,678,740 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8552:Usp10
|
UTSW |
8 |
120,683,367 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9020:Usp10
|
UTSW |
8 |
120,667,904 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9380:Usp10
|
UTSW |
8 |
120,682,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Usp10
|
UTSW |
8 |
120,675,504 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9771:Usp10
|
UTSW |
8 |
120,658,620 (GRCm39) |
frame shift |
probably null |
|
|
R9772:Usp10
|
UTSW |
8 |
120,658,620 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation