Incidental Mutation 'R0048:Usp8'
| ID |
18518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp8
|
| Ensembl Gene |
ENSMUSG00000027363 |
| Gene Name |
ubiquitin specific peptidase 8 |
| Synonyms |
Ubpy |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126549248-126601217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126579809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 353
(P353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028841]
[ENSMUST00000110416]
[ENSMUST00000136319]
|
| AlphaFold |
Q80U87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028841
AA Change: P342L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: P342L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
6 |
116 |
2.3e-37 |
PFAM |
|
low complexity region
|
119 |
140 |
N/A |
INTRINSIC |
|
RHOD
|
185 |
310 |
3.69e-7 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
657 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
738 |
1068 |
4e-88 |
PFAM |
|
Pfam:UCH_1
|
739 |
1053 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110416
AA Change: P353L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: P353L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
6 |
127 |
2.5e-36 |
PFAM |
|
low complexity region
|
130 |
151 |
N/A |
INTRINSIC |
|
RHOD
|
196 |
321 |
3.69e-7 |
SMART |
|
low complexity region
|
389 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
478 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
668 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
749 |
1079 |
1.3e-82 |
PFAM |
|
Pfam:UCH_1
|
750 |
1064 |
3.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136319
|
| SMART Domains |
Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
1 |
268 |
1.9e-39 |
PFAM |
|
Pfam:UCH_1
|
1 |
269 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138859
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
| Validation Efficiency |
94% (92/98) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
| Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
| Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
| Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
| Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
| Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
| Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
| Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,519,323 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
| Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,729 (GRCm39) |
V452M |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
probably damaging |
Het |
|
| Other mutations in Usp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Usp8
|
APN |
2 |
126,600,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00771:Usp8
|
APN |
2 |
126,567,353 (GRCm39) |
splice site |
probably null |
|
|
IGL01073:Usp8
|
APN |
2 |
126,560,034 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01722:Usp8
|
APN |
2 |
126,600,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Usp8
|
APN |
2 |
126,579,774 (GRCm39) |
intron |
probably benign |
|
|
IGL02210:Usp8
|
APN |
2 |
126,559,976 (GRCm39) |
intron |
probably benign |
|
|
IGL02516:Usp8
|
APN |
2 |
126,584,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02743:Usp8
|
APN |
2 |
126,575,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02953:Usp8
|
APN |
2 |
126,579,857 (GRCm39) |
missense |
probably benign |
|
|
Satsuke
|
UTSW |
2 |
126,593,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Usp8
|
UTSW |
2 |
126,584,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0048:Usp8
|
UTSW |
2 |
126,579,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0143:Usp8
|
UTSW |
2 |
126,597,009 (GRCm39) |
intron |
probably benign |
|
|
R0427:Usp8
|
UTSW |
2 |
126,559,952 (GRCm39) |
intron |
probably benign |
|
|
R0440:Usp8
|
UTSW |
2 |
126,567,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Usp8
|
UTSW |
2 |
126,562,030 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0828:Usp8
|
UTSW |
2 |
126,584,034 (GRCm39) |
intron |
probably benign |
|
|
R1468:Usp8
|
UTSW |
2 |
126,596,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Usp8
|
UTSW |
2 |
126,596,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Usp8
|
UTSW |
2 |
126,561,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Usp8
|
UTSW |
2 |
126,597,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Usp8
|
UTSW |
2 |
126,579,495 (GRCm39) |
splice site |
probably null |
|
|
R2259:Usp8
|
UTSW |
2 |
126,600,488 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2892:Usp8
|
UTSW |
2 |
126,600,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Usp8
|
UTSW |
2 |
126,600,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Usp8
|
UTSW |
2 |
126,600,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Usp8
|
UTSW |
2 |
126,594,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Usp8
|
UTSW |
2 |
126,567,349 (GRCm39) |
missense |
probably null |
1.00 |
|
R4715:Usp8
|
UTSW |
2 |
126,571,142 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4832:Usp8
|
UTSW |
2 |
126,596,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Usp8
|
UTSW |
2 |
126,562,060 (GRCm39) |
nonsense |
probably null |
|
|
R4915:Usp8
|
UTSW |
2 |
126,562,060 (GRCm39) |
nonsense |
probably null |
|
|
R4918:Usp8
|
UTSW |
2 |
126,562,060 (GRCm39) |
nonsense |
probably null |
|
|
R5262:Usp8
|
UTSW |
2 |
126,593,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Usp8
|
UTSW |
2 |
126,584,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Usp8
|
UTSW |
2 |
126,584,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5671:Usp8
|
UTSW |
2 |
126,584,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5984:Usp8
|
UTSW |
2 |
126,584,401 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6529:Usp8
|
UTSW |
2 |
126,567,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6551:Usp8
|
UTSW |
2 |
126,575,102 (GRCm39) |
intron |
probably benign |
|
|
R6885:Usp8
|
UTSW |
2 |
126,594,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Usp8
|
UTSW |
2 |
126,593,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Usp8
|
UTSW |
2 |
126,596,800 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8130:Usp8
|
UTSW |
2 |
126,559,918 (GRCm39) |
intron |
probably benign |
|
|
R8379:Usp8
|
UTSW |
2 |
126,584,491 (GRCm39) |
missense |
probably benign |
|
|
R8412:Usp8
|
UTSW |
2 |
126,584,578 (GRCm39) |
missense |
probably benign |
|
|
R8880:Usp8
|
UTSW |
2 |
126,590,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Usp8
|
UTSW |
2 |
126,579,343 (GRCm39) |
missense |
probably benign |
|
|
R9198:Usp8
|
UTSW |
2 |
126,600,524 (GRCm39) |
makesense |
probably null |
|
|
R9280:Usp8
|
UTSW |
2 |
126,561,944 (GRCm39) |
missense |
unknown |
|
|
R9441:Usp8
|
UTSW |
2 |
126,562,073 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9561:Usp8
|
UTSW |
2 |
126,578,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Usp8
|
UTSW |
2 |
126,600,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation