Incidental Mutation 'R3923:Usp33'
ID |
307023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
040820-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R3923 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 152080428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
[ENSMUST00000197748]
|
AlphaFold |
Q8R5K2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026507
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437
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 null
Transcript: ENSMUST00000026507
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437
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 null
Transcript: ENSMUST00000117492
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437
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 |
probably null
Transcript: ENSMUST00000117492
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437
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 |
probably benign
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 benign
Transcript: ENSMUST00000197600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197600
|
Predicted Effect |
probably null
Transcript: ENSMUST00000197748
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437
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 |
probably null
Transcript: ENSMUST00000197748
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437
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: ENSMUST00000198950
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,180,514 (GRCm39) |
M528V |
possibly damaging |
Het |
Ano3 |
T |
A |
2: 110,601,304 (GRCm39) |
Y318F |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,427,871 (GRCm39) |
D132E |
probably damaging |
Het |
Atp2b2 |
A |
G |
6: 113,774,069 (GRCm39) |
|
probably null |
Het |
Cast |
T |
C |
13: 74,876,532 (GRCm39) |
E447G |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,395,426 (GRCm39) |
I439T |
probably damaging |
Het |
Ccdc50 |
A |
T |
16: 27,263,294 (GRCm39) |
R264S |
probably damaging |
Het |
Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
Chd9 |
T |
A |
8: 91,660,147 (GRCm39) |
V369E |
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
Col4a1 |
T |
A |
8: 11,251,665 (GRCm39) |
|
probably benign |
Het |
Crtac1 |
A |
G |
19: 42,322,386 (GRCm39) |
V118A |
probably damaging |
Het |
Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,748,812 (GRCm39) |
T137S |
probably damaging |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
A |
T |
2: 24,774,347 (GRCm39) |
|
probably null |
Het |
Emc1 |
T |
A |
4: 139,090,496 (GRCm39) |
L412* |
probably null |
Het |
Ep400 |
T |
C |
5: 110,904,389 (GRCm39) |
N70S |
possibly damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,018,549 (GRCm39) |
|
probably benign |
Het |
Fry |
T |
C |
5: 150,336,814 (GRCm39) |
V1395A |
probably benign |
Het |
Gps1 |
A |
G |
11: 120,677,259 (GRCm39) |
N186S |
possibly damaging |
Het |
Hdgf |
T |
A |
3: 87,821,535 (GRCm39) |
D128E |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,301,107 (GRCm39) |
S362P |
probably damaging |
Het |
Hypk |
C |
A |
2: 121,288,683 (GRCm39) |
H116Q |
possibly damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,945,045 (GRCm39) |
S589P |
probably benign |
Het |
Kdm5a |
T |
C |
6: 120,358,625 (GRCm39) |
S223P |
probably benign |
Het |
Kif21a |
C |
T |
15: 90,821,497 (GRCm39) |
S1432N |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
Lrrn2 |
A |
G |
1: 132,866,230 (GRCm39) |
S432G |
probably benign |
Het |
Mlana |
T |
A |
19: 29,682,098 (GRCm39) |
S50R |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,364,149 (GRCm39) |
H4383Q |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,216,442 (GRCm39) |
S1469P |
probably damaging |
Het |
Nol6 |
G |
T |
4: 41,121,531 (GRCm39) |
F270L |
probably benign |
Het |
Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,368,688 (GRCm39) |
I243V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,951,754 (GRCm39) |
I4297V |
possibly damaging |
Het |
Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
Or8k23 |
T |
C |
2: 86,186,205 (GRCm39) |
I174V |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,716,583 (GRCm39) |
|
probably null |
Het |
Plod1 |
T |
C |
4: 148,000,280 (GRCm39) |
K260E |
possibly damaging |
Het |
Rgsl1 |
T |
C |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
Rpe65 |
T |
A |
3: 159,310,037 (GRCm39) |
F103L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,672,218 (GRCm39) |
A1438T |
possibly damaging |
Het |
Slc17a3 |
G |
A |
13: 24,042,037 (GRCm39) |
V402M |
possibly damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Snph |
C |
T |
2: 151,435,431 (GRCm39) |
C430Y |
probably damaging |
Het |
Tarbp1 |
T |
C |
8: 127,167,510 (GRCm39) |
I1101V |
probably benign |
Het |
Tatdn1 |
G |
A |
15: 58,793,020 (GRCm39) |
L120F |
possibly damaging |
Het |
Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,630,183 (GRCm39) |
T636A |
probably benign |
Het |
Ube2l6 |
A |
G |
2: 84,639,418 (GRCm39) |
D127G |
possibly damaging |
Het |
Usp53 |
A |
T |
3: 122,727,954 (GRCm39) |
F876Y |
probably benign |
Het |
Utrn |
A |
T |
10: 12,615,223 (GRCm39) |
I316K |
probably benign |
Het |
Zfp106 |
G |
T |
2: 120,365,337 (GRCm39) |
Q357K |
probably damaging |
Het |
Zfp143 |
T |
C |
7: 109,673,398 (GRCm39) |
V138A |
probably damaging |
Het |
Zfp451 |
T |
C |
1: 33,818,126 (GRCm39) |
R118G |
probably null |
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 |
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 |
PCR Primer
(F):5'- AGGTGTCTATAACCCTCGAGAC -3'
(R):5'- TCACTGACCAAACATGGAGC -3'
Sequencing Primer
(F):5'- TATAACCCTCGAGACCTTTCAGG -3'
(R):5'- TTCATCTCTGGCGAAGAAGGC -3'
|
Posted On |
2015-04-17 |