Incidental Mutation 'R5913:Usp33'
ID |
461100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
044110-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R5913 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152086229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 656
(V656A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000197748]
|
AlphaFold |
Q8R5K2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026507
AA Change: V656A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437 AA Change: V656A
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: V656A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437 AA Change: V656A
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 |
noncoding transcript
Transcript: ENSMUST00000197325
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197748
AA Change: V664A
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437 AA Change: V664A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200075
|
Meta Mutation Damage Score |
0.4428 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
97% (75/77) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2cl |
A |
T |
9: 110,718,773 (GRCm39) |
|
probably null |
Het |
Arhgef19 |
A |
T |
4: 140,976,609 (GRCm39) |
H457L |
probably benign |
Het |
Armc3 |
A |
G |
2: 19,314,858 (GRCm39) |
Y856C |
possibly damaging |
Het |
Bdp1 |
A |
T |
13: 100,187,612 (GRCm39) |
V1585D |
probably benign |
Het |
Bhlhe40 |
T |
G |
6: 108,642,154 (GRCm39) |
M366R |
possibly damaging |
Het |
Bora |
C |
T |
14: 99,305,948 (GRCm39) |
S439L |
probably benign |
Het |
Cacnb4 |
G |
A |
2: 52,324,796 (GRCm39) |
|
probably benign |
Het |
Carm1 |
T |
C |
9: 21,498,848 (GRCm39) |
S529P |
probably benign |
Het |
Cd200r1 |
A |
G |
16: 44,610,034 (GRCm39) |
I84M |
possibly damaging |
Het |
Cd209a |
A |
G |
8: 3,798,742 (GRCm39) |
S22P |
probably benign |
Het |
Celf2 |
A |
T |
2: 7,085,969 (GRCm39) |
M1K |
probably null |
Het |
Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
Cep95 |
T |
C |
11: 106,709,335 (GRCm39) |
|
probably benign |
Het |
Clip4 |
G |
A |
17: 72,131,760 (GRCm39) |
R366K |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,445,781 (GRCm39) |
K3284E |
probably benign |
Het |
Csn3 |
T |
A |
5: 88,075,470 (GRCm39) |
L12Q |
probably damaging |
Het |
Ctdnep1 |
T |
C |
11: 69,879,691 (GRCm39) |
L39P |
probably damaging |
Het |
Cxcl17 |
C |
T |
7: 25,101,671 (GRCm39) |
W55* |
probably null |
Het |
Cyp2u1 |
G |
A |
3: 131,096,860 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,888,831 (GRCm39) |
E823V |
possibly damaging |
Het |
Dnah2 |
T |
C |
11: 69,339,256 (GRCm39) |
I3078V |
probably damaging |
Het |
Dpp10 |
A |
C |
1: 123,312,018 (GRCm39) |
Y446D |
probably damaging |
Het |
Eif2s3y |
T |
C |
Y: 1,017,365 (GRCm39) |
V290A |
probably benign |
Homo |
Fktn |
G |
A |
4: 53,735,035 (GRCm39) |
W224* |
probably null |
Het |
Gm37240 |
T |
C |
3: 84,874,905 (GRCm39) |
|
probably benign |
Het |
Gpr3 |
A |
G |
4: 132,938,489 (GRCm39) |
V61A |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,237,470 (GRCm39) |
|
probably null |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,462,037 (GRCm39) |
I968K |
possibly damaging |
Het |
Hmox2 |
G |
T |
16: 4,582,732 (GRCm39) |
R155L |
probably damaging |
Het |
Ifnlr1 |
C |
A |
4: 135,432,580 (GRCm39) |
Q339K |
probably damaging |
Het |
Ifnlr1 |
A |
T |
4: 135,432,581 (GRCm39) |
Q339L |
probably damaging |
Het |
Irf4 |
T |
A |
13: 30,941,741 (GRCm39) |
S365T |
probably benign |
Het |
Klrb1a |
T |
G |
6: 128,595,472 (GRCm39) |
D124A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,369,832 (GRCm39) |
I78N |
probably damaging |
Het |
Mctp1 |
G |
T |
13: 76,907,944 (GRCm39) |
|
probably null |
Het |
Muc21 |
C |
T |
17: 35,934,123 (GRCm39) |
|
probably benign |
Het |
Mxra8 |
A |
T |
4: 155,927,760 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
A |
7: 5,327,902 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
P2ry13 |
T |
C |
3: 59,116,786 (GRCm39) |
T331A |
probably benign |
Het |
Padi2 |
G |
A |
4: 140,644,952 (GRCm39) |
R62H |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,607,707 (GRCm39) |
Q313L |
probably benign |
Het |
Pcdhga11 |
A |
G |
18: 37,889,045 (GRCm39) |
I18V |
probably benign |
Het |
Pcdhga11 |
A |
G |
18: 37,891,142 (GRCm39) |
R717G |
probably benign |
Het |
Pcif1 |
C |
A |
2: 164,726,412 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,813,849 (GRCm39) |
T1501A |
probably benign |
Het |
Plekhg2 |
C |
A |
7: 28,064,027 (GRCm39) |
R473L |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,307,152 (GRCm39) |
Y466C |
probably damaging |
Het |
Sec22c |
A |
G |
9: 121,519,368 (GRCm39) |
S83P |
possibly damaging |
Het |
Sgcz |
T |
A |
8: 37,993,425 (GRCm39) |
Q224L |
possibly damaging |
Het |
Slc27a1 |
C |
T |
8: 72,036,907 (GRCm39) |
P381L |
probably benign |
Het |
Slc8a1 |
T |
A |
17: 81,955,431 (GRCm39) |
I536F |
probably damaging |
Het |
Src |
T |
A |
2: 157,307,950 (GRCm39) |
|
probably null |
Het |
Sybu |
T |
A |
15: 44,651,017 (GRCm39) |
T96S |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,235,929 (GRCm39) |
Y363H |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,939,302 (GRCm39) |
E582G |
possibly damaging |
Het |
Tmem131 |
C |
A |
1: 36,858,209 (GRCm39) |
V713L |
probably benign |
Het |
Tnfsf13b |
T |
A |
8: 10,056,988 (GRCm39) |
L49Q |
probably damaging |
Het |
Trem2 |
T |
A |
17: 48,653,661 (GRCm39) |
|
probably benign |
Het |
Tspyl3 |
T |
A |
2: 153,066,636 (GRCm39) |
M201L |
probably benign |
Het |
Ttl |
A |
G |
2: 128,917,961 (GRCm39) |
D141G |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,951,889 (GRCm39) |
V153A |
possibly damaging |
Het |
Ubr3 |
A |
G |
2: 69,851,559 (GRCm39) |
Y1842C |
probably damaging |
Het |
Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
Vmo1 |
A |
T |
11: 70,405,241 (GRCm39) |
V63D |
probably damaging |
Het |
Zcwpw1 |
T |
A |
5: 137,798,269 (GRCm39) |
D155E |
probably benign |
Het |
Zeb1 |
T |
G |
18: 5,766,765 (GRCm39) |
S425R |
possibly 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 |
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 |
|
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'- TGCTTCCTGTCTTACAGTGG -3'
(R):5'- GTACCATTCTGTAAACAGCTTCTC -3'
Sequencing Primer
(F):5'- TGCTGAGAGTGCAGACTGAAATAATC -3'
(R):5'- CTCTCTTACTCATGAGCGTGCAC -3'
|
Posted On |
2017-02-28 |