Incidental Mutation 'R5182:Usp10'
| ID |
397619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp10
|
| Ensembl Gene |
ENSMUSG00000031826 |
| Gene Name |
ubiquitin specific peptidase 10 |
| Synonyms |
2610014N07Rik, Uchrp |
| MMRRC Submission |
042853-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120683420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 764
(V764I)
|
| 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: V764I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: V764I
| 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 |
silent
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: ENSMUST00000137310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139648
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144458
AA Change: V765I
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: V765I
| 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: ENSMUST00000148767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142432
|
| Meta Mutation Damage Score |
0.2808 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
G |
19: 21,608,129 (GRCm39) |
M1T |
probably null |
Het |
| Abcg8 |
T |
C |
17: 85,000,172 (GRCm39) |
L243P |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,327,912 (GRCm39) |
T811A |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,503,919 (GRCm39) |
N188S |
probably null |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,733,854 (GRCm39) |
L3013R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,776 (GRCm39) |
I533T |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,734,531 (GRCm39) |
E2637* |
probably null |
Het |
| Coq5 |
G |
A |
5: 115,417,815 (GRCm39) |
R15H |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,311,424 (GRCm39) |
I1801S |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,417,370 (GRCm39) |
E34G |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,218,167 (GRCm39) |
Q1536K |
probably benign |
Het |
| Eeig2 |
T |
C |
3: 108,892,667 (GRCm39) |
K173E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,562,971 (GRCm39) |
|
probably null |
Het |
| Fignl1 |
A |
T |
11: 11,751,717 (GRCm39) |
I446N |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,784,032 (GRCm39) |
C845* |
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,299,401 (GRCm39) |
V347A |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,053 (GRCm39) |
|
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,653 (GRCm39) |
V299F |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,450 (GRCm39) |
R3229S |
unknown |
Het |
| Icam5 |
A |
G |
9: 20,946,106 (GRCm39) |
T313A |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,424,958 (GRCm39) |
D668V |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,365,066 (GRCm39) |
C322* |
probably null |
Het |
| Klk6 |
A |
G |
7: 43,478,084 (GRCm39) |
K152R |
probably benign |
Het |
| Man1a2 |
A |
C |
3: 100,554,333 (GRCm39) |
I250S |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,181 (GRCm39) |
Y170C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,629,801 (GRCm39) |
|
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,005 (GRCm39) |
M288T |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,176 (GRCm39) |
D104E |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,444,368 (GRCm39) |
E229K |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,105 (GRCm39) |
I196T |
possibly damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,230 (GRCm39) |
I299T |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,819 (GRCm39) |
I295V |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,370,485 (GRCm39) |
L28P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,174 (GRCm38) |
T632A |
probably benign |
Het |
| Rab43 |
A |
G |
6: 87,771,637 (GRCm39) |
*118R |
probably null |
Het |
| Rabep1 |
C |
T |
11: 70,795,454 (GRCm39) |
R227* |
probably null |
Het |
| Rad51c |
T |
G |
11: 87,288,545 (GRCm39) |
I213L |
possibly damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,169,287 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,585,495 (GRCm39) |
E2735G |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,995 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,457,652 (GRCm39) |
R242H |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,671,238 (GRCm39) |
T983M |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,626,506 (GRCm39) |
Y252H |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,887,877 (GRCm39) |
T482I |
probably benign |
Het |
| St7 |
A |
G |
6: 17,846,236 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 40,468,866 (GRCm39) |
Q232L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,222 (GRCm39) |
K270N |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,488,996 (GRCm39) |
G768D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,700,773 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
A |
C |
4: 149,465,699 (GRCm39) |
S250R |
probably null |
Het |
| Ubxn2a |
G |
A |
12: 4,930,634 (GRCm39) |
A242V |
probably damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,667 (GRCm39) |
L182P |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,632 (GRCm39) |
V616A |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,672,863 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,637 (GRCm39) |
T1315K |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,839,331 (GRCm39) |
C266Y |
probably damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,504 (GRCm39) |
N662K |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCACCTGAGTCAGTAGC -3'
(R):5'- TCTACAGAGCCACTAGAGAGG -3'
Sequencing Primer
(F):5'- ACCTGAGTCAGTAGCCTGCAG -3'
(R):5'- CACTAGAGAGGTGGGTAGTGAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation