Incidental Mutation 'IGL02951:Usp10'
| ID |
365976 |
| 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 # |
IGL02951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120673825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 397
(T397A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108982]
[ENSMUST00000108988]
[ENSMUST00000127664]
[ENSMUST00000144458]
|
| AlphaFold |
P52479 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108982
|
| SMART Domains |
Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
9 |
113 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108988
AA Change: T396A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: T396A
| 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 |
noncoding transcript
Transcript: ENSMUST00000135210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144458
AA Change: T397A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: T397A
| 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: ENSMUST00000143615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212612
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,290,536 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,868 (GRCm39) |
T291I |
probably benign |
Het |
| Adam34l |
T |
G |
8: 44,080,125 (GRCm39) |
H33P |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,157,439 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
C |
T |
7: 126,049,399 (GRCm39) |
V548M |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,992,812 (GRCm39) |
S980L |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,797,865 (GRCm39) |
M425T |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,147,143 (GRCm39) |
L2733S |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,251,874 (GRCm39) |
|
probably null |
Het |
| Cimap1d |
T |
C |
10: 79,475,811 (GRCm39) |
N251S |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,260,448 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
C |
15: 78,556,082 (GRCm39) |
K822E |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,112,240 (GRCm39) |
S764L |
probably benign |
Het |
| Etl4 |
C |
A |
2: 20,806,348 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
C |
A |
7: 35,092,376 (GRCm39) |
K180N |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,057,862 (GRCm39) |
R888W |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,581,009 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
T |
C |
14: 5,976,168 (GRCm38) |
E201G |
possibly damaging |
Het |
| Gnpat |
G |
T |
8: 125,597,644 (GRCm39) |
D69Y |
probably benign |
Het |
| Gpaa1 |
T |
A |
15: 76,217,019 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
A |
T |
9: 78,149,819 (GRCm39) |
K211* |
probably null |
Het |
| Lct |
G |
T |
1: 128,227,948 (GRCm39) |
Q1182K |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,311,836 (GRCm39) |
L523P |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,425,200 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,403 (GRCm39) |
V354F |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,171,516 (GRCm39) |
V506I |
possibly damaging |
Het |
| Nadk |
A |
C |
4: 155,671,933 (GRCm39) |
K271Q |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,412,542 (GRCm39) |
R954G |
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,462,805 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,835,698 (GRCm39) |
D587G |
possibly damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,727 (GRCm39) |
F135Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,339 (GRCm39) |
|
probably benign |
Het |
| Or4k42 |
T |
G |
2: 111,320,465 (GRCm39) |
I13L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,678,903 (GRCm39) |
T355I |
probably benign |
Het |
| Pdgfd |
G |
T |
9: 6,288,494 (GRCm39) |
L43F |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,237 (GRCm39) |
S60P |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,576,788 (GRCm39) |
N25S |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,503,321 (GRCm39) |
F779Y |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,398,334 (GRCm39) |
R1078C |
probably damaging |
Het |
| Rnf38 |
G |
T |
4: 44,129,619 (GRCm39) |
S425* |
probably null |
Het |
| Rps21 |
T |
A |
2: 179,899,840 (GRCm39) |
I59N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,324,751 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Slc35b2 |
A |
G |
17: 45,875,694 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,166,611 (GRCm39) |
F15L |
probably benign |
Het |
| Snapc4 |
A |
C |
2: 26,260,847 (GRCm39) |
N465K |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,696 (GRCm39) |
E487K |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Taco1 |
A |
G |
11: 105,960,353 (GRCm39) |
N98S |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,985,299 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,751,456 (GRCm39) |
S507G |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,611 (GRCm39) |
C906S |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,765,112 (GRCm39) |
I963N |
possibly damaging |
Het |
| Usp3 |
G |
A |
9: 66,449,832 (GRCm39) |
R160* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,394,460 (GRCm39) |
Y144C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,831 (GRCm39) |
R172W |
probably damaging |
Het |
|
| Other mutations in Usp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02000:Usp10
|
APN |
8 |
120,675,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation