Incidental Mutation 'R3002:Usp33'
ID |
477300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
040531-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R3002 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 152063579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 18
(T18S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
AlphaFold |
Q8R5K2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026507
AA Change: T18S
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437 AA Change: T18S
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 damaging
Transcript: ENSMUST00000117492
AA Change: T18S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437 AA Change: T18S
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 |
possibly damaging
Transcript: ENSMUST00000123237
AA Change: T18S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117590 Gene: ENSMUSG00000025437 AA Change: T18S
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 damaging
Transcript: ENSMUST00000197748
AA Change: T18S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437 AA Change: T18S
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 |
0.0977 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (41/41) |
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 |
2810459M11Rik |
T |
C |
1: 85,973,802 (GRCm39) |
W40R |
possibly damaging |
Het |
A2m |
A |
G |
6: 121,638,406 (GRCm39) |
S873G |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
Adcy6 |
T |
C |
15: 98,494,541 (GRCm39) |
T767A |
probably benign |
Het |
Bnip3 |
T |
C |
7: 138,496,430 (GRCm39) |
I93V |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,052,517 (GRCm39) |
D269G |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
Chrd |
T |
G |
16: 20,556,195 (GRCm39) |
Y585* |
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,102,856 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
Dnai2 |
C |
T |
11: 114,641,297 (GRCm39) |
P374L |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,511,134 (GRCm39) |
F1289I |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
Fasn |
T |
C |
11: 120,700,671 (GRCm39) |
D2114G |
probably benign |
Het |
Fbxl17 |
T |
A |
17: 63,532,072 (GRCm39) |
E590D |
probably damaging |
Het |
Flnb |
G |
T |
14: 7,907,162 (GRCm38) |
R1245L |
probably benign |
Het |
Folh1 |
A |
C |
7: 86,372,519 (GRCm39) |
I678M |
probably damaging |
Het |
Frrs1l |
G |
T |
4: 56,990,139 (GRCm39) |
|
probably benign |
Het |
Hal |
G |
A |
10: 93,343,381 (GRCm39) |
A542T |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,910 (GRCm39) |
M252K |
probably damaging |
Het |
Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
Klhdc1 |
T |
A |
12: 69,302,983 (GRCm39) |
V173D |
possibly damaging |
Het |
Knop1 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTC |
7: 118,451,672 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,955,825 (GRCm39) |
V657A |
probably benign |
Het |
Lrig1 |
G |
A |
6: 94,585,758 (GRCm39) |
S810L |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,871,290 (GRCm39) |
M2676L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,195,349 (GRCm39) |
S188T |
probably benign |
Het |
Mrgprb3 |
C |
T |
7: 48,293,232 (GRCm39) |
M106I |
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,468,526 (GRCm39) |
I311T |
probably damaging |
Het |
Ndufa8 |
T |
A |
2: 35,926,571 (GRCm39) |
E155V |
possibly damaging |
Het |
Nr4a1 |
A |
G |
15: 101,168,853 (GRCm39) |
|
probably null |
Het |
Or2a12 |
A |
G |
6: 42,904,888 (GRCm39) |
H241R |
probably damaging |
Het |
Orc3 |
T |
C |
4: 34,571,790 (GRCm39) |
T660A |
probably benign |
Het |
Otub2 |
T |
C |
12: 103,370,536 (GRCm39) |
S273P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,664,792 (GRCm39) |
T55A |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,289 (GRCm39) |
L241P |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,516,946 (GRCm39) |
I1058N |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,143,996 (GRCm39) |
F359S |
possibly damaging |
Het |
Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,890,000 (GRCm39) |
N73S |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,942,628 (GRCm39) |
V1156E |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,268,976 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
G |
A |
5: 145,096,386 (GRCm39) |
L236F |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,151,579 (GRCm39) |
I208V |
probably benign |
Het |
Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
Sec14l5 |
A |
G |
16: 4,989,746 (GRCm39) |
Y230C |
probably damaging |
Het |
Sele |
G |
T |
1: 163,881,140 (GRCm39) |
G447C |
probably damaging |
Het |
Slc17a1 |
G |
A |
13: 24,062,564 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
A |
T |
11: 69,836,751 (GRCm39) |
Y159* |
probably null |
Het |
Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
Tdrd1 |
C |
A |
19: 56,850,182 (GRCm39) |
Y981* |
probably null |
Het |
Tex15 |
T |
C |
8: 34,064,556 (GRCm39) |
Y1329H |
probably benign |
Het |
Tgif2 |
C |
G |
2: 156,686,114 (GRCm39) |
S2W |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,878,688 (GRCm39) |
M620V |
probably benign |
Het |
Tmeff2 |
C |
T |
1: 51,220,994 (GRCm39) |
A323V |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
C |
4: 3,569,588 (GRCm39) |
L34W |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,170,230 (GRCm39) |
|
probably null |
Het |
Trpm2 |
A |
T |
10: 77,766,368 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
Tyk2 |
C |
A |
9: 21,020,617 (GRCm39) |
R938L |
probably benign |
Het |
V1rd19 |
A |
T |
7: 23,703,310 (GRCm39) |
I259F |
probably benign |
Het |
Vmn2r24 |
A |
C |
6: 123,781,231 (GRCm39) |
Q479P |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
Wfdc6a |
C |
T |
2: 164,422,225 (GRCm39) |
V125I |
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,077 (GRCm39) |
C369R |
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 |
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 |
R4821:Usp33
|
UTSW |
3 |
152,064,310 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2017-05-15 |