Incidental Mutation 'R5184:Usp10'
| ID |
397762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp10
|
| Ensembl Gene |
ENSMUSG00000031826 |
| Gene Name |
ubiquitin specific peptidase 10 |
| Synonyms |
2610014N07Rik, Uchrp |
| MMRRC Submission |
042763-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5184 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
| Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
| Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,779,182 (GRCm39) |
T221A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
| Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,283,242 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,824,608 (GRCm39) |
I534N |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,770,182 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
| Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
| Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
| Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
| Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
| Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
| Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
| Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
| Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
| Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,001,845 (GRCm39) |
T134A |
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
|
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 |
|
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