Incidental Mutation 'R8552:Usp10'
ID |
659910 |
Institutional Source |
Beutler Lab
|
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 # |
R8552 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 120683367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 746
(T746M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104616
(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 |
possibly damaging
Transcript: ENSMUST00000108988
AA Change: T746M
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104616 Gene: ENSMUSG00000031826 AA Change: T746M
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 |
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 |
|
SMART Domains |
Protein: ENSMUSP00000134182 Gene: ENSMUSG00000031826 AA Change: R61W
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144458
AA Change: T747M
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123590 Gene: ENSMUSG00000031826 AA Change: T747M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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 |
Abcg2 |
A |
G |
6: 58,646,210 (GRCm39) |
H242R |
possibly damaging |
Het |
Adam1b |
G |
T |
5: 121,639,504 (GRCm39) |
R514S |
probably benign |
Het |
Adprs |
A |
G |
4: 126,210,368 (GRCm39) |
*371Q |
probably null |
Het |
Arid4a |
T |
C |
12: 71,106,849 (GRCm39) |
L307P |
probably benign |
Het |
Armc12 |
C |
T |
17: 28,757,675 (GRCm39) |
A269V |
probably benign |
Het |
Asb1 |
T |
A |
1: 91,480,078 (GRCm39) |
V259E |
probably damaging |
Het |
Atm |
T |
C |
9: 53,435,797 (GRCm39) |
Y171C |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,011,431 (GRCm39) |
F959L |
probably benign |
Het |
B4galt3 |
G |
T |
1: 171,101,917 (GRCm39) |
E34D |
possibly damaging |
Het |
Cacna1i |
A |
G |
15: 80,204,598 (GRCm39) |
N90S |
possibly damaging |
Het |
Cdc42ep2 |
T |
A |
19: 5,968,060 (GRCm39) |
*215L |
probably null |
Het |
Cep162 |
C |
T |
9: 87,126,361 (GRCm39) |
E184K |
probably benign |
Het |
Cnga3 |
C |
T |
1: 37,284,060 (GRCm39) |
P121L |
probably benign |
Het |
Cpt1b |
G |
A |
15: 89,306,524 (GRCm39) |
R285C |
probably damaging |
Het |
Defb18 |
T |
C |
1: 18,306,791 (GRCm39) |
Y55C |
probably damaging |
Het |
Depdc1b |
C |
T |
13: 108,493,959 (GRCm39) |
P116S |
probably damaging |
Het |
Dhx16 |
C |
T |
17: 36,192,183 (GRCm39) |
A74V |
possibly damaging |
Het |
Dnajc21 |
A |
T |
15: 10,464,005 (GRCm39) |
Y53* |
probably null |
Het |
Dse |
T |
C |
10: 34,028,316 (GRCm39) |
R925G |
possibly damaging |
Het |
Dsp |
C |
T |
13: 38,369,117 (GRCm39) |
L738F |
probably damaging |
Het |
Erv3 |
T |
C |
2: 131,698,261 (GRCm39) |
K33E |
possibly damaging |
Het |
Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
Gdf9 |
T |
C |
11: 53,324,378 (GRCm39) |
L49S |
possibly damaging |
Het |
Gigyf1 |
G |
T |
5: 137,521,401 (GRCm39) |
|
probably benign |
Het |
Gm4792 |
T |
A |
10: 94,131,061 (GRCm39) |
I83L |
unknown |
Het |
Ighv9-3 |
A |
G |
12: 114,104,349 (GRCm39) |
L105P |
probably damaging |
Het |
Krtap5-1 |
C |
A |
7: 141,850,160 (GRCm39) |
W189L |
probably null |
Het |
Krtap5-3 |
T |
A |
7: 141,756,089 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,298,993 (GRCm39) |
E108D |
probably benign |
Het |
Lrrc66 |
G |
A |
5: 73,768,228 (GRCm39) |
P238S |
probably benign |
Het |
Ms4a4c |
C |
T |
19: 11,392,196 (GRCm39) |
Q6* |
probably null |
Het |
Or5b97 |
A |
G |
19: 12,879,096 (GRCm39) |
L16P |
probably damaging |
Het |
Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,972 (GRCm39) |
R300G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,810,443 (GRCm39) |
H92Q |
probably damaging |
Het |
Rad54l2 |
T |
A |
9: 106,570,777 (GRCm39) |
Q1181L |
possibly damaging |
Het |
Rbl1 |
A |
T |
2: 157,038,174 (GRCm39) |
V131E |
probably damaging |
Het |
Rbp3 |
A |
G |
14: 33,677,621 (GRCm39) |
E523G |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Slc22a20 |
C |
A |
19: 6,035,698 (GRCm39) |
C130F |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,670,979 (GRCm39) |
L709S |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,600,765 (GRCm39) |
|
probably benign |
Het |
Teddm1b |
T |
A |
1: 153,750,194 (GRCm39) |
M1K |
probably null |
Het |
Tes |
A |
G |
6: 17,097,327 (GRCm39) |
Y60C |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,088,144 (GRCm39) |
L43P |
probably damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,880,213 (GRCm39) |
E618G |
probably damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,880,414 (GRCm39) |
D551G |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Trim30b |
T |
A |
7: 104,015,236 (GRCm39) |
T51S |
probably benign |
Het |
Trmt44 |
G |
T |
5: 35,722,744 (GRCm39) |
H441Q |
probably benign |
Het |
Tshr |
C |
A |
12: 91,504,059 (GRCm39) |
D332E |
probably benign |
Het |
Vmn1r8 |
A |
T |
6: 57,013,138 (GRCm39) |
D63V |
possibly damaging |
Het |
Vps13a |
A |
C |
19: 16,731,684 (GRCm39) |
L143V |
probably damaging |
Het |
Wnt3a |
T |
A |
11: 59,166,043 (GRCm39) |
H79L |
probably damaging |
Het |
Zbtb7a |
C |
T |
10: 80,980,141 (GRCm39) |
R112W |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCACCTGAGTCAGTAGC -3'
(R):5'- TCTACAGAGCCACTAGAGAGG -3'
Sequencing Primer
(F):5'- ACCTGAGTCAGTAGCCTGCAG -3'
(R):5'- CTGTAGGAAGCAGCGTCAG -3'
|
Posted On |
2021-01-18 |