Incidental Mutation 'R4821:Usp33'
ID |
370210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
042437-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R4821 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152064310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 58
(V58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
AlphaFold |
Q8R5K2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026507
AA Change: V58A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437 AA Change: V58A
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
95 |
1.7e-18 |
PFAM |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:UCH
|
153 |
671 |
2.2e-71 |
PFAM |
Pfam:UCH_1
|
154 |
387 |
1.4e-9 |
PFAM |
Pfam:UCH_1
|
371 |
653 |
6.8e-25 |
PFAM |
DUSP
|
691 |
774 |
4.4e-17 |
SMART |
DUSP
|
799 |
883 |
2.44e-33 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117492
AA Change: V58A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437 AA Change: V58A
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
95 |
1e-18 |
PFAM |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:UCH
|
153 |
679 |
1.6e-64 |
PFAM |
Pfam:UCH_1
|
154 |
387 |
1.2e-8 |
PFAM |
Pfam:UCH_1
|
366 |
661 |
1.3e-23 |
PFAM |
DUSP
|
699 |
782 |
4.4e-17 |
SMART |
DUSP
|
807 |
891 |
2.44e-33 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000123237
|
SMART Domains |
Protein: ENSMUSP00000117590 Gene: ENSMUSG00000025437
Domain | Start | End | E-Value | Type |
PDB:2UZG|A
|
5 |
45 |
2e-23 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142969
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197748
AA Change: V58A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437 AA Change: V58A
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
95 |
1.7e-18 |
PFAM |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:UCH
|
153 |
679 |
2.3e-71 |
PFAM |
Pfam:UCH_1
|
154 |
383 |
1.2e-9 |
PFAM |
Pfam:UCH_1
|
368 |
661 |
1e-24 |
PFAM |
DUSP
|
699 |
782 |
4.4e-17 |
SMART |
DUSP
|
807 |
891 |
2.44e-33 |
SMART |
|
Meta Mutation Damage Score |
0.0578 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (79/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,871 (GRCm39) |
K150R |
probably damaging |
Het |
Aak1 |
T |
C |
6: 86,827,171 (GRCm39) |
V46A |
probably damaging |
Het |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam33 |
G |
A |
2: 130,903,115 (GRCm39) |
P43L |
probably benign |
Het |
Adamtsl2 |
T |
A |
2: 26,988,604 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,327,255 (GRCm39) |
|
probably benign |
Het |
Art1 |
T |
A |
7: 101,756,385 (GRCm39) |
L192Q |
probably damaging |
Het |
Baalc |
A |
G |
15: 38,796,575 (GRCm39) |
|
probably benign |
Het |
Baz2a |
A |
G |
10: 127,946,978 (GRCm39) |
E164G |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,144 (GRCm39) |
I391V |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,673,386 (GRCm39) |
T497A |
probably damaging |
Het |
Cap2 |
C |
A |
13: 46,763,586 (GRCm39) |
T164N |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,751,225 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,904,338 (GRCm39) |
N1120S |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,612,452 (GRCm39) |
E96G |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,844,706 (GRCm39) |
V1605D |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,622,622 (GRCm39) |
|
probably benign |
Het |
Commd3 |
T |
C |
2: 18,677,339 (GRCm39) |
S22P |
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,063 (GRCm39) |
I244V |
probably benign |
Het |
Cpeb2 |
C |
A |
5: 43,390,817 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,635 (GRCm39) |
D165G |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,289,148 (GRCm39) |
Y152C |
probably damaging |
Het |
Dennd4a |
G |
A |
9: 64,804,531 (GRCm39) |
C1290Y |
possibly damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,965 (GRCm39) |
M232I |
probably benign |
Het |
Farp2 |
A |
G |
1: 93,502,192 (GRCm39) |
|
probably null |
Het |
Frk |
T |
C |
10: 34,360,233 (GRCm39) |
V78A |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,782,098 (GRCm39) |
D90G |
probably damaging |
Het |
Gpr45 |
C |
G |
1: 43,069,613 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,002,606 (GRCm39) |
|
probably null |
Het |
Igkv4-57-1 |
T |
A |
6: 69,521,387 (GRCm39) |
D105V |
probably damaging |
Het |
Impdh2-ps |
A |
G |
8: 100,757,995 (GRCm39) |
|
noncoding transcript |
Het |
Kctd4 |
G |
A |
14: 76,200,217 (GRCm39) |
V63I |
probably benign |
Het |
Lcn6 |
T |
A |
2: 25,570,822 (GRCm39) |
L137M |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,687,126 (GRCm39) |
N737D |
probably benign |
Het |
Mcu |
C |
T |
10: 59,303,511 (GRCm39) |
V109M |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,039,500 (GRCm39) |
K186N |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,384,727 (GRCm39) |
D533G |
probably damaging |
Het |
Nae1 |
A |
C |
8: 105,246,416 (GRCm39) |
C294G |
probably damaging |
Het |
Ncapg2 |
T |
G |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
Nkx2-2 |
A |
T |
2: 147,027,763 (GRCm39) |
L59Q |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,171,483 (GRCm39) |
T295I |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,897,652 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,931,293 (GRCm39) |
M5781K |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,206 (GRCm39) |
T77A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,570 (GRCm39) |
|
noncoding transcript |
Het |
Or4z4 |
T |
A |
19: 12,076,110 (GRCm39) |
M298L |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,467,381 (GRCm39) |
P101T |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,979,885 (GRCm39) |
S324P |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,034,490 (GRCm39) |
|
probably null |
Het |
Ppcdc |
C |
T |
9: 57,342,194 (GRCm39) |
V43I |
probably benign |
Het |
Prr13 |
A |
T |
15: 102,369,120 (GRCm39) |
|
probably benign |
Het |
Rab10os |
T |
A |
12: 3,287,322 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1 |
T |
C |
2: 37,422,531 (GRCm39) |
S595P |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,439,440 (GRCm39) |
S126P |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,114,185 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
T |
A |
5: 31,194,228 (GRCm39) |
K610* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,711,386 (GRCm39) |
V27I |
probably benign |
Het |
Tmco5b |
T |
C |
2: 113,120,102 (GRCm39) |
I126T |
probably benign |
Het |
Tmed7 |
G |
A |
18: 46,726,480 (GRCm39) |
Q92* |
probably null |
Het |
Trav7d-2 |
A |
G |
14: 52,921,885 (GRCm39) |
D98G |
probably benign |
Het |
Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,485,848 (GRCm39) |
V2986A |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,293 (GRCm39) |
M373L |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,467,512 (GRCm39) |
|
probably benign |
Het |
Zbbx |
G |
A |
3: 74,989,054 (GRCm39) |
H345Y |
possibly damaging |
Het |
Zfp346 |
G |
T |
13: 55,261,626 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
C |
T |
11: 73,975,033 (GRCm39) |
A434V |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
Other mutations in Usp33 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Usp33
|
APN |
3 |
152,079,046 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01085:Usp33
|
APN |
3 |
152,074,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01335:Usp33
|
APN |
3 |
152,097,854 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02095:Usp33
|
APN |
3 |
152,087,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02323:Usp33
|
APN |
3 |
152,076,024 (GRCm39) |
missense |
probably benign |
|
IGL03010:Usp33
|
APN |
3 |
152,074,233 (GRCm39) |
missense |
probably benign |
0.04 |
R0464:Usp33
|
UTSW |
3 |
152,081,872 (GRCm39) |
splice site |
probably benign |
|
R0576:Usp33
|
UTSW |
3 |
152,089,756 (GRCm39) |
nonsense |
probably null |
|
R0583:Usp33
|
UTSW |
3 |
152,073,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Usp33
|
UTSW |
3 |
152,086,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Usp33
|
UTSW |
3 |
152,074,271 (GRCm39) |
missense |
probably damaging |
0.99 |
R1507:Usp33
|
UTSW |
3 |
152,080,400 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1600:Usp33
|
UTSW |
3 |
152,085,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R1673:Usp33
|
UTSW |
3 |
152,073,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Usp33
|
UTSW |
3 |
152,085,223 (GRCm39) |
missense |
probably benign |
0.07 |
R1961:Usp33
|
UTSW |
3 |
152,086,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R1973:Usp33
|
UTSW |
3 |
152,065,923 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2231:Usp33
|
UTSW |
3 |
152,079,023 (GRCm39) |
missense |
probably benign |
0.00 |
R2299:Usp33
|
UTSW |
3 |
152,080,258 (GRCm39) |
missense |
probably damaging |
0.99 |
R3001:Usp33
|
UTSW |
3 |
152,063,579 (GRCm39) |
missense |
probably damaging |
0.99 |
R3002:Usp33
|
UTSW |
3 |
152,063,579 (GRCm39) |
missense |
probably damaging |
0.99 |
R3923:Usp33
|
UTSW |
3 |
152,080,428 (GRCm39) |
critical splice donor site |
probably null |
|
R4366:Usp33
|
UTSW |
3 |
152,074,149 (GRCm39) |
missense |
probably benign |
0.44 |
R5256:Usp33
|
UTSW |
3 |
152,097,333 (GRCm39) |
nonsense |
probably null |
|
R5396:Usp33
|
UTSW |
3 |
152,089,824 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5445:Usp33
|
UTSW |
3 |
152,080,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5877:Usp33
|
UTSW |
3 |
152,085,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5877:Usp33
|
UTSW |
3 |
152,085,113 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5884:Usp33
|
UTSW |
3 |
152,073,967 (GRCm39) |
missense |
probably benign |
|
R5913:Usp33
|
UTSW |
3 |
152,086,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R5920:Usp33
|
UTSW |
3 |
152,080,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Usp33
|
UTSW |
3 |
152,081,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6516:Usp33
|
UTSW |
3 |
152,079,053 (GRCm39) |
missense |
probably benign |
0.01 |
R6624:Usp33
|
UTSW |
3 |
152,087,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R6679:Usp33
|
UTSW |
3 |
152,074,124 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7196:Usp33
|
UTSW |
3 |
152,089,828 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7250:Usp33
|
UTSW |
3 |
152,097,999 (GRCm39) |
nonsense |
probably null |
|
R7310:Usp33
|
UTSW |
3 |
152,066,026 (GRCm39) |
nonsense |
probably null |
|
R7569:Usp33
|
UTSW |
3 |
152,097,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Usp33
|
UTSW |
3 |
152,063,589 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8118:Usp33
|
UTSW |
3 |
152,065,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8229:Usp33
|
UTSW |
3 |
152,075,929 (GRCm39) |
missense |
probably benign |
|
R8333:Usp33
|
UTSW |
3 |
152,080,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774:Usp33
|
UTSW |
3 |
152,085,213 (GRCm39) |
nonsense |
probably null |
|
R8774-TAIL:Usp33
|
UTSW |
3 |
152,085,213 (GRCm39) |
nonsense |
probably null |
|
R8854:Usp33
|
UTSW |
3 |
152,073,967 (GRCm39) |
missense |
probably benign |
0.10 |
R8953:Usp33
|
UTSW |
3 |
152,080,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9480:Usp33
|
UTSW |
3 |
152,079,086 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0025:Usp33
|
UTSW |
3 |
152,072,395 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Usp33
|
UTSW |
3 |
152,065,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGGTGAGATAACATTCAGTTTG -3'
(R):5'- ACTCCAGACACAGCCTGAATTAATG -3'
Sequencing Primer
(F):5'- AATCTGGTCTTTGTGCTTAATACC -3'
(R):5'- CAGCCTGAATTAATGCTACACTG -3'
|
Posted On |
2016-02-04 |