Incidental Mutation 'R5461:Usp10'
| ID |
433028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp10
|
| Ensembl Gene |
ENSMUSG00000031826 |
| Gene Name |
ubiquitin specific peptidase 10 |
| Synonyms |
2610014N07Rik, Uchrp |
| MMRRC Submission |
043023-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5461 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120683406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 759
(I759T)
|
| 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 |
probably benign
Transcript: ENSMUST00000108988
AA Change: I759T
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: I759T
| 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 |
unknown
Transcript: ENSMUST00000134729
AA Change: S74P
|
| SMART Domains |
Protein: ENSMUSP00000134182
Gene: ENSMUSG00000031826
AA Change: S74P
| 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 |
probably benign
Transcript: ENSMUST00000144458
AA Change: I760T
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: I760T
| 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 |
0.6389 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,643 (GRCm39) |
I405K |
possibly damaging |
Het |
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,248 (GRCm39) |
W1079R |
probably damaging |
Het |
| Arsa |
T |
C |
15: 89,357,478 (GRCm39) |
H495R |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,541,643 (GRCm39) |
L152P |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,673,042 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
G |
A |
12: 80,804,816 (GRCm39) |
A486V |
unknown |
Het |
| Cpa2 |
A |
G |
6: 30,544,180 (GRCm39) |
T38A |
probably benign |
Het |
| Crim1 |
T |
G |
17: 78,545,236 (GRCm39) |
C133G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,364,177 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,824,550 (GRCm39) |
Q2392* |
probably null |
Het |
| Exoc2 |
C |
T |
13: 31,109,738 (GRCm39) |
S210N |
possibly damaging |
Het |
| Gm7003 |
A |
G |
12: 113,766,847 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,245,863 (GRCm39) |
K2192R |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,053,010 (GRCm39) |
D176G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,246,693 (GRCm39) |
E8K |
possibly damaging |
Het |
| Itgb8 |
T |
C |
12: 119,131,740 (GRCm39) |
E635G |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
G |
16: 22,897,887 (GRCm39) |
H429R |
probably benign |
Het |
| Mcm3 |
T |
C |
1: 20,884,661 (GRCm39) |
I281V |
probably benign |
Het |
| Msi1 |
T |
C |
5: 115,579,450 (GRCm39) |
S200P |
possibly damaging |
Het |
| Nat3 |
T |
C |
8: 68,000,514 (GRCm39) |
L131P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,104,177 (GRCm39) |
E1752G |
probably damaging |
Het |
| Nnt |
C |
T |
13: 119,505,131 (GRCm39) |
A414T |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,786,370 (GRCm39) |
Q292* |
probably null |
Het |
| Or51ah3 |
T |
A |
7: 103,209,780 (GRCm39) |
L32Q |
probably damaging |
Het |
| Or52k2 |
G |
A |
7: 102,253,615 (GRCm39) |
G18D |
probably damaging |
Het |
| Otop1 |
A |
T |
5: 38,457,059 (GRCm39) |
I273F |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 177,920,694 (GRCm39) |
N177K |
probably benign |
Het |
| Pik3c2b |
C |
T |
1: 133,027,440 (GRCm39) |
T1313I |
possibly damaging |
Het |
| Pikfyve |
C |
A |
1: 65,274,192 (GRCm39) |
D677E |
probably damaging |
Het |
| Poc1a |
T |
C |
9: 106,165,209 (GRCm39) |
F157L |
probably damaging |
Het |
| Prodh2 |
G |
T |
7: 30,193,948 (GRCm39) |
R185L |
possibly damaging |
Het |
| Rcc1 |
T |
C |
4: 132,061,497 (GRCm39) |
I350M |
probably benign |
Het |
| Rhd |
G |
A |
4: 134,611,928 (GRCm39) |
A249T |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,287,252 (GRCm39) |
Y57C |
probably damaging |
Het |
| Shmt1 |
A |
G |
11: 60,685,725 (GRCm39) |
S284P |
possibly damaging |
Het |
| Shpk |
T |
C |
11: 73,090,361 (GRCm39) |
V6A |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,262,836 (GRCm39) |
V661A |
probably benign |
Het |
| Spesp1 |
A |
T |
9: 62,180,014 (GRCm39) |
L298Q |
probably damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,320 (GRCm39) |
Q231K |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,518,856 (GRCm39) |
Y280C |
probably benign |
Het |
| Tnip1 |
T |
C |
11: 54,801,625 (GRCm39) |
|
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,192,395 (GRCm39) |
D295E |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,078,397 (GRCm39) |
L1521F |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,759 (GRCm39) |
C24* |
probably null |
Het |
| Vmn2r104 |
T |
A |
17: 20,250,343 (GRCm39) |
I643F |
probably damaging |
Het |
| Wwc1 |
T |
A |
11: 35,758,199 (GRCm39) |
T716S |
probably damaging |
Het |
| Zfp949 |
C |
T |
9: 88,451,537 (GRCm39) |
T369M |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,621,938 (GRCm39) |
V743A |
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 |
|
R5184:Usp10
|
UTSW |
8 |
120,683,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- AGTGTCCACCTGAGTCAGTAGC -3'
(R):5'- CTACAGAGCCACTAGAGAGGTG -3'
Sequencing Primer
(F):5'- ACCTGAGTCAGTAGCCTGCAG -3'
(R):5'- CACTAGAGAGGTGGGTAGTGAGTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation