Incidental Mutation 'R8118:Usp33'
ID |
631321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
067547-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R8118 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152065996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 92
(L92S)
|
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: L92S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437 AA Change: L92S
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: L92S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437 AA Change: L92S
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 |
probably damaging
Transcript: ENSMUST00000197748
AA Change: L92S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437 AA Change: L92S
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.2%
- 20x: 91.1%
|
Validation Efficiency |
97% (68/70) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
T |
C |
16: 85,592,821 (GRCm39) |
D792G |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,042,384 (GRCm39) |
H417R |
probably damaging |
Het |
Agr2 |
A |
G |
12: 36,046,106 (GRCm39) |
D79G |
probably benign |
Het |
Ankle1 |
T |
C |
8: 71,860,279 (GRCm39) |
S286P |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,643,164 (GRCm39) |
S1488P |
probably damaging |
Het |
Atp6v0a2 |
T |
C |
5: 124,789,837 (GRCm39) |
M421T |
probably damaging |
Het |
Cdk17 |
C |
A |
10: 93,052,252 (GRCm39) |
Q111K |
possibly damaging |
Het |
Cimap2 |
T |
A |
4: 106,470,595 (GRCm39) |
R192S |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,204,834 (GRCm39) |
S623P |
probably benign |
Het |
Dgka |
C |
T |
10: 128,558,318 (GRCm39) |
|
probably null |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Dsg2 |
A |
G |
18: 20,715,858 (GRCm39) |
I267V |
probably benign |
Het |
Exoc4 |
T |
C |
6: 33,948,853 (GRCm39) |
Y899H |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,871,400 (GRCm39) |
F3664L |
probably benign |
Het |
Fbxo47 |
C |
T |
11: 97,770,341 (GRCm39) |
C17Y |
probably benign |
Het |
Gm2888 |
G |
T |
14: 3,037,628 (GRCm38) |
V207F |
probably benign |
Het |
Gpr61 |
A |
G |
3: 108,057,888 (GRCm39) |
S258P |
probably damaging |
Het |
H2-T9 |
C |
T |
17: 36,438,582 (GRCm39) |
V270M |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,424,439 (GRCm39) |
H700Y |
probably benign |
Het |
Hs3st2 |
C |
T |
7: 120,996,651 (GRCm39) |
T154I |
probably benign |
Het |
Inf2 |
A |
T |
12: 112,567,871 (GRCm39) |
H167L |
probably damaging |
Het |
Ints3 |
C |
T |
3: 90,307,606 (GRCm39) |
|
probably null |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Itgal |
C |
A |
7: 126,910,417 (GRCm39) |
Q509K |
probably benign |
Het |
Klhl20 |
A |
T |
1: 160,925,971 (GRCm39) |
|
probably null |
Het |
Krtap4-13 |
C |
T |
11: 99,700,224 (GRCm39) |
C145Y |
unknown |
Het |
Large1 |
A |
G |
8: 73,858,572 (GRCm39) |
S99P |
probably benign |
Het |
Lrba |
A |
T |
3: 86,261,533 (GRCm39) |
I1496L |
probably benign |
Het |
Map2 |
A |
T |
1: 66,464,550 (GRCm39) |
I1647F |
probably damaging |
Het |
Map3k10 |
A |
G |
7: 27,372,842 (GRCm39) |
V203A |
possibly damaging |
Het |
Mcmdc2 |
T |
A |
1: 9,986,599 (GRCm39) |
N166K |
possibly damaging |
Het |
Mlxipl |
T |
G |
5: 135,166,102 (GRCm39) |
L828R |
possibly damaging |
Het |
Mnat1 |
A |
G |
12: 73,265,864 (GRCm39) |
I253V |
probably benign |
Het |
Mtfp1 |
A |
G |
11: 4,043,910 (GRCm39) |
S107P |
probably damaging |
Het |
Nebl |
T |
A |
2: 17,384,631 (GRCm39) |
Y65F |
possibly damaging |
Het |
Nelfb |
A |
T |
2: 25,095,171 (GRCm39) |
D339E |
possibly damaging |
Het |
Nlrc3 |
T |
A |
16: 3,783,495 (GRCm39) |
I20L |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,207,451 (GRCm39) |
M1501K |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,034,976 (GRCm39) |
C297* |
probably null |
Het |
Or1ad8 |
A |
G |
11: 50,898,327 (GRCm39) |
H176R |
probably damaging |
Het |
Or2t6 |
A |
G |
14: 14,175,863 (GRCm38) |
I73T |
probably damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,608 (GRCm39) |
D84G |
probably benign |
Het |
Or5b123 |
T |
A |
19: 13,597,109 (GRCm39) |
N151K |
probably damaging |
Het |
Or5g29 |
T |
A |
2: 85,421,332 (GRCm39) |
Y149* |
probably null |
Het |
Palm3 |
A |
G |
8: 84,756,438 (GRCm39) |
E650G |
probably damaging |
Het |
Prps1l1 |
C |
A |
12: 35,035,340 (GRCm39) |
L152M |
probably damaging |
Het |
Rgs7bp |
C |
A |
13: 105,189,629 (GRCm39) |
V57F |
probably damaging |
Het |
Scaf8 |
T |
A |
17: 3,214,458 (GRCm39) |
V171D |
unknown |
Het |
Sf3a2 |
T |
C |
10: 80,639,474 (GRCm39) |
Y155H |
probably damaging |
Het |
Sfrp1 |
T |
G |
8: 23,902,000 (GRCm39) |
L67R |
probably damaging |
Het |
Shank2 |
A |
T |
7: 143,963,612 (GRCm39) |
I407L |
probably benign |
Het |
Skint6 |
T |
C |
4: 112,722,872 (GRCm39) |
T902A |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 113,013,691 (GRCm39) |
S353R |
possibly damaging |
Het |
Srrm2 |
T |
A |
17: 24,027,057 (GRCm39) |
I87N |
unknown |
Het |
Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
Svs3b |
A |
G |
2: 164,097,926 (GRCm39) |
S132P |
probably damaging |
Het |
Tbc1d17 |
G |
T |
7: 44,492,426 (GRCm39) |
F412L |
probably benign |
Het |
Tex29 |
A |
T |
8: 11,904,263 (GRCm39) |
E116D |
unknown |
Het |
Tmem204 |
T |
C |
17: 25,299,312 (GRCm39) |
D69G |
possibly damaging |
Het |
Ttll10 |
G |
A |
4: 156,129,219 (GRCm39) |
R308C |
probably benign |
Het |
Ttn |
T |
A |
2: 76,577,508 (GRCm39) |
I24462F |
probably damaging |
Het |
Tubg2 |
A |
G |
11: 101,052,304 (GRCm39) |
E411G |
probably damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,571,630 (GRCm39) |
N134S |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,276,485 (GRCm39) |
T351A |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,429 (GRCm39) |
I471N |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Wnk2 |
A |
G |
13: 49,244,459 (GRCm39) |
V459A |
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 |
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 |
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'- TGTGTTCATGTGTGCCCCAC -3'
(R):5'- CCTGAGCACACAGATAAGCTTTC -3'
Sequencing Primer
(F):5'- CCACAGTAGCTCTTCTGAGTAC -3'
(R):5'- GAGCACACAGATAAGCTTTCTAAAG -3'
|
Posted On |
2020-06-30 |