Incidental Mutation 'IGL02444:Usp10'
| ID |
293525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120637099-120684299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120675432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 483
(I483F)
|
| 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
AA Change: I47F
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: I47F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
9 |
113 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108988
AA Change: I483F
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: I483F
| 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: ENSMUST00000135210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137310
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144458
AA Change: I484F
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: I484F
| 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: ENSMUST00000212612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143615
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,710 (GRCm39) |
I260T |
possibly damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,163,816 (GRCm39) |
V484D |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,542,319 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,555,083 (GRCm39) |
S457P |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,618 (GRCm39) |
T38A |
probably damaging |
Het |
| Cast |
G |
A |
13: 74,887,972 (GRCm39) |
T240I |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,413,542 (GRCm39) |
|
probably benign |
Het |
| Cdon |
T |
C |
9: 35,384,744 (GRCm39) |
S677P |
probably benign |
Het |
| Cfap161 |
T |
C |
7: 83,425,353 (GRCm39) |
E246G |
probably damaging |
Het |
| Dnah11 |
G |
A |
12: 117,939,608 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,838,444 (GRCm39) |
V835I |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,762,045 (GRCm39) |
H510R |
possibly damaging |
Het |
| Fbxw2 |
G |
T |
2: 34,695,793 (GRCm39) |
T367K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,426,189 (GRCm39) |
S82P |
probably benign |
Het |
| Gm4353 |
C |
T |
7: 115,682,679 (GRCm39) |
V301I |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,728,178 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,609,860 (GRCm39) |
M650L |
possibly damaging |
Het |
| Herc4 |
T |
C |
10: 63,142,212 (GRCm39) |
V671A |
probably benign |
Het |
| Iqcb1 |
T |
A |
16: 36,652,273 (GRCm39) |
Y61* |
probably null |
Het |
| Irs2 |
C |
T |
8: 11,056,306 (GRCm39) |
G709S |
probably benign |
Het |
| Itpripl1 |
T |
G |
2: 126,983,621 (GRCm39) |
H167P |
possibly damaging |
Het |
| Kcnn3 |
T |
C |
3: 89,559,359 (GRCm39) |
V543A |
possibly damaging |
Het |
| Klf10 |
T |
A |
15: 38,298,068 (GRCm39) |
K43M |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,547,450 (GRCm39) |
R345C |
probably damaging |
Het |
| Lmntd2 |
A |
G |
7: 140,791,832 (GRCm39) |
S304P |
probably damaging |
Het |
| Lpar3 |
T |
C |
3: 145,946,949 (GRCm39) |
I209T |
probably damaging |
Het |
| Map3k13 |
T |
A |
16: 21,732,982 (GRCm39) |
M528K |
probably benign |
Het |
| Me1 |
A |
T |
9: 86,464,967 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,337,028 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
T |
A |
5: 121,058,071 (GRCm39) |
F338L |
probably benign |
Het |
| Or1b1 |
G |
T |
2: 36,994,786 (GRCm39) |
P292Q |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,551 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,454,103 (GRCm39) |
V161A |
probably benign |
Het |
| Prdx3 |
A |
T |
19: 60,859,899 (GRCm39) |
F91L |
possibly damaging |
Het |
| Rab25 |
T |
C |
3: 88,450,020 (GRCm39) |
T114A |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,126,765 (GRCm39) |
E73G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,772,234 (GRCm39) |
S252P |
probably damaging |
Het |
| Srgap2 |
A |
C |
1: 131,252,891 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,735,502 (GRCm39) |
S576P |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,966,013 (GRCm39) |
A524S |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,874 (GRCm39) |
|
probably benign |
Het |
| Tmem52 |
G |
A |
4: 155,554,850 (GRCm39) |
D158N |
probably damaging |
Het |
| Tyw3 |
T |
A |
3: 154,302,626 (GRCm39) |
Q36L |
probably damaging |
Het |
| Usp31 |
A |
G |
7: 121,278,718 (GRCm39) |
Y216H |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,683,948 (GRCm39) |
S138P |
probably damaging |
Het |
| Vmn2r42 |
G |
T |
7: 8,187,312 (GRCm39) |
A770E |
probably damaging |
Het |
| Zfp292 |
A |
C |
4: 34,808,810 (GRCm39) |
S1411R |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation