Incidental Mutation 'IGL02323:Usp33'
| ID |
288353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp33
|
| Ensembl Gene |
ENSMUSG00000025437 |
| Gene Name |
ubiquitin specific peptidase 33 |
| Synonyms |
Vdu1, 9830169D19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
IGL02323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152076024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 415
(W415R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026507
AA Change: W415R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: W415R
| 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 benign
Transcript: ENSMUST00000117492
AA Change: W415R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: W415R
| 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 |
noncoding transcript
Transcript: ENSMUST00000138575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196811
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197748
AA Change: W415R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: W415R
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,326 (GRCm39) |
E344G |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,255 (GRCm39) |
T294A |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,506 (GRCm39) |
E54* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,847,933 (GRCm39) |
I447T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,212 (GRCm39) |
I1542T |
probably benign |
Het |
| Ankrd34c |
A |
C |
9: 89,612,033 (GRCm39) |
S103A |
possibly damaging |
Het |
| Apc |
C |
T |
18: 34,448,863 (GRCm39) |
Q1886* |
probably null |
Het |
| Bcas3 |
A |
G |
11: 85,386,671 (GRCm39) |
T148A |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,194,350 (GRCm39) |
T8A |
probably benign |
Het |
| Casr |
A |
T |
16: 36,330,072 (GRCm39) |
Y421N |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,600 (GRCm39) |
Y49C |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,697,794 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,619,082 (GRCm39) |
T686A |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,026 (GRCm39) |
H748Q |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,170,056 (GRCm39) |
D683E |
possibly damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,152 (GRCm39) |
K117R |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,456,024 (GRCm39) |
M341T |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,056,047 (GRCm39) |
Y1740* |
probably null |
Het |
| Fam149b |
C |
T |
14: 20,413,369 (GRCm39) |
T157I |
possibly damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,899 (GRCm39) |
|
probably null |
Het |
| Fbxo3 |
T |
A |
2: 103,878,296 (GRCm39) |
N232K |
probably benign |
Het |
| Gnl3 |
A |
C |
14: 30,739,359 (GRCm39) |
H16Q |
probably damaging |
Het |
| Gpld1 |
T |
G |
13: 25,166,757 (GRCm39) |
V669G |
probably damaging |
Het |
| Grik3 |
A |
G |
4: 125,579,783 (GRCm39) |
|
probably benign |
Het |
| Gzmg |
A |
C |
14: 56,394,729 (GRCm39) |
Y180D |
probably benign |
Het |
| H2-M9 |
A |
T |
17: 36,951,633 (GRCm39) |
Y281N |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,442,001 (GRCm39) |
S637T |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mrs2 |
T |
A |
13: 25,188,940 (GRCm39) |
I125F |
probably damaging |
Het |
| Nfam1 |
T |
A |
15: 82,907,152 (GRCm39) |
N15I |
probably benign |
Het |
| Nol8 |
T |
A |
13: 49,808,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,899,348 (GRCm39) |
V6483A |
possibly damaging |
Het |
| Or2a56 |
A |
T |
6: 42,932,917 (GRCm39) |
I162F |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,323,306 (GRCm39) |
|
probably null |
Het |
| Plaat3 |
G |
A |
19: 7,552,357 (GRCm39) |
W24* |
probably null |
Het |
| Ppfibp2 |
A |
T |
7: 107,337,836 (GRCm39) |
Q652H |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,772 (GRCm39) |
V277A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,333,497 (GRCm39) |
A716V |
probably benign |
Het |
| Scart1 |
G |
T |
7: 139,808,572 (GRCm39) |
A828S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,785 (GRCm39) |
L375* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,703,407 (GRCm39) |
E227G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,199,413 (GRCm39) |
D656G |
possibly damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,692 (GRCm39) |
H111R |
possibly damaging |
Het |
| Spmip9 |
A |
G |
6: 70,890,679 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,070,236 (GRCm39) |
Q2517* |
probably null |
Het |
| Syndig1 |
G |
T |
2: 149,741,707 (GRCm39) |
V98L |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,911,183 (GRCm39) |
E154G |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,992 (GRCm39) |
G490S |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,328 (GRCm39) |
N314D |
probably benign |
Het |
| Tnfaip8l1 |
A |
T |
17: 56,479,009 (GRCm39) |
T100S |
probably damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Trim12c |
C |
T |
7: 103,997,473 (GRCm39) |
A28T |
probably benign |
Het |
| Trpc7 |
C |
A |
13: 56,931,564 (GRCm39) |
V595L |
possibly damaging |
Het |
| Ttc39c |
A |
G |
18: 12,869,800 (GRCm39) |
R575G |
probably null |
Het |
| Ttn |
T |
G |
2: 76,681,919 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,553,609 (GRCm39) |
V31003M |
probably damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,398,423 (GRCm39) |
|
probably benign |
Het |
| Uqcrb |
A |
T |
13: 67,050,874 (GRCm39) |
|
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,399 (GRCm39) |
D41E |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,113 (GRCm39) |
I204F |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation