Incidental Mutation 'PIT4585001:Usp10'
| ID |
556608 |
| 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 # |
PIT4585001 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120681631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 696
(V696G)
|
| 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: V695G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: V695G
| 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 |
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 |
probably benign
Transcript: ENSMUST00000144458
AA Change: V696G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: V696G
| 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: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
| Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
| Eif5a |
T |
C |
11: 69,808,896 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
| Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
| Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
| Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
| Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
| Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
| Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,697 (GRCm39) |
C263R |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
| Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
| Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
| Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
| Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
| Oit3 |
T |
A |
10: 59,266,835 (GRCm39) |
I224F |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
| Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
| Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,794,276 (GRCm39) |
S548L |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
| Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
| Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
| Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,820 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTCAGTTGCAGGTGTC -3'
(R):5'- GTTTTGCTACTACCTGCACCAG -3'
Sequencing Primer
(F):5'- CTCAGTTGCAGGTGTCCATAG -3'
(R):5'- GCTCAGTAGTTTAAAGACCACTGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation