Incidental Mutation 'R4345:Usp10'
ID |
324300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp10
|
Ensembl Gene |
ENSMUSG00000031826 |
Gene Name |
ubiquitin specific peptidase 10 |
Synonyms |
2610014N07Rik, Uchrp |
MMRRC Submission |
041666-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4345 (G1)
|
Quality Score |
220 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120681553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 670
(L670Q)
|
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 damaging
Transcript: ENSMUST00000108988
AA Change: L669Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104616 Gene: ENSMUSG00000031826 AA Change: L669Q
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000137310
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139648
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144458
AA Change: L670Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123590 Gene: ENSMUSG00000031826 AA Change: L670Q
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: ENSMUST00000142432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148767
|
Meta Mutation Damage Score |
0.9022 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
96% (47/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TTGTGACTGAGATGACGAGAC -3'
(R):5'- AACTAAAGGTCTCCCTGGTGAC -3'
Sequencing Primer
(F):5'- TGGTGCCTACCCACTCCAG -3'
(R):5'- ACTGGGTGGTGACAGGCTC -3'
|
Posted On |
2015-06-24 |