Incidental Mutation 'R1507:Usp33'
| ID |
167981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp33
|
| Ensembl Gene |
ENSMUSG00000025437 |
| Gene Name |
ubiquitin specific peptidase 33 |
| Synonyms |
Vdu1, 9830169D19Rik |
| MMRRC Submission |
039555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R1507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152080400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 510
(I510M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026507
AA Change: I510M
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: I510M
| 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 |
possibly damaging
Transcript: ENSMUST00000117492
AA Change: I510M
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: I510M
| 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 |
possibly damaging
Transcript: ENSMUST00000197748
AA Change: I510M
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: I510M
| 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
|
| Meta Mutation Damage Score |
0.2664 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003F12Rik |
T |
G |
2: 154,391,539 (GRCm39) |
V102G |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,620,699 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,987,441 (GRCm39) |
D2908E |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,143,610 (GRCm39) |
M1243V |
probably benign |
Het |
| Apobec2 |
T |
C |
17: 48,730,003 (GRCm39) |
D221G |
possibly damaging |
Het |
| Bcas1 |
T |
C |
2: 170,208,348 (GRCm39) |
D472G |
probably damaging |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,437 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209d |
G |
T |
8: 3,928,453 (GRCm39) |
Q11K |
possibly damaging |
Het |
| Cdc14a |
G |
A |
3: 116,087,646 (GRCm39) |
T455I |
possibly damaging |
Het |
| Cep120 |
A |
G |
18: 53,830,729 (GRCm39) |
S843P |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,122,260 (GRCm39) |
H380L |
probably damaging |
Het |
| Derl2 |
A |
T |
11: 70,898,171 (GRCm39) |
W233R |
probably benign |
Het |
| Drd5 |
A |
T |
5: 38,478,065 (GRCm39) |
I353F |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,357,055 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Edil3 |
T |
A |
13: 89,279,831 (GRCm39) |
S170T |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,038 (GRCm39) |
T658S |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,379,124 (GRCm39) |
M309V |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,189 (GRCm39) |
Y41C |
probably damaging |
Het |
| Hexim2 |
T |
A |
11: 103,029,147 (GRCm39) |
C66* |
probably null |
Het |
| Htr2a |
T |
C |
14: 74,943,419 (GRCm39) |
V333A |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,041,026 (GRCm39) |
E1065G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,524 (GRCm39) |
D1325E |
probably damaging |
Het |
| Kcnk9 |
T |
A |
15: 72,384,083 (GRCm39) |
E365V |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,563,571 (GRCm39) |
N135I |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,729,700 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,367,581 (GRCm39) |
I1788F |
probably damaging |
Het |
| Lsm6 |
G |
A |
8: 79,539,608 (GRCm39) |
R31* |
probably null |
Het |
| Mical3 |
T |
A |
6: 121,019,199 (GRCm39) |
T8S |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,424,186 (GRCm39) |
F1123S |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,191 (GRCm39) |
D30G |
probably benign |
Het |
| Or51l4 |
C |
T |
7: 103,404,228 (GRCm39) |
R188H |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,856 (GRCm39) |
D69E |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,310 (GRCm39) |
I126N |
probably damaging |
Het |
| Parvg |
T |
A |
15: 84,214,359 (GRCm39) |
V181E |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,880,860 (GRCm39) |
T1106A |
probably benign |
Het |
| Plekhh1 |
A |
T |
12: 79,126,224 (GRCm39) |
T1310S |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,098,086 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,988,600 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
G |
T |
19: 27,745,913 (GRCm39) |
T731K |
probably benign |
Het |
| Rnf31 |
A |
T |
14: 55,836,439 (GRCm39) |
K634* |
probably null |
Het |
| Scp2 |
CACTTTAATAATACTTT |
CACTTT |
4: 107,944,209 (GRCm39) |
|
probably null |
Het |
| Set |
A |
G |
2: 29,959,106 (GRCm39) |
H101R |
probably damaging |
Het |
| Slc30a6 |
G |
T |
17: 74,715,857 (GRCm39) |
V106F |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Spaca3 |
G |
A |
11: 80,753,983 (GRCm39) |
R40H |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Ston2 |
A |
T |
12: 91,608,454 (GRCm39) |
I882N |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,740,857 (GRCm39) |
S1209P |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,647,470 (GRCm39) |
T23A |
probably benign |
Het |
| Topors |
A |
G |
4: 40,261,829 (GRCm39) |
V485A |
probably damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,620 (GRCm39) |
L254Q |
probably damaging |
Het |
| Traf3 |
A |
C |
12: 111,227,194 (GRCm39) |
T336P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,710,934 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,981,114 (GRCm39) |
R2388W |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,110,910 (GRCm39) |
S434P |
probably benign |
Het |
| Vmn1r65 |
C |
A |
7: 6,012,108 (GRCm39) |
G42V |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,666,031 (GRCm39) |
L262S |
possibly damaging |
Het |
| Yap1 |
A |
T |
9: 7,953,141 (GRCm39) |
|
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,702,059 (GRCm39) |
Y198H |
possibly damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,033 (GRCm39) |
K259* |
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 |
|
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 |
|
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'- CCTGGTACAAAGTGAACGAGGCTC -3'
(R):5'- TTCATCTCTGGCGAAGAAGGCAGC -3'
Sequencing Primer
(F):5'- CAAAGTGAACGAGGCTCATTTC -3'
(R):5'- TTGCAAGGTAACTACTGGACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation