Incidental Mutation 'IGL01335:Usp33'
| ID |
74582 |
| 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 # |
IGL01335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152097854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 849
(S849P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000117492]
[ENSMUST00000197748]
[ENSMUST00000200570]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026507
AA Change: S849P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: S849P
| 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: ENSMUST00000089982
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
657 |
711 |
1.42e-9 |
SMART |
|
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
814 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
823 |
871 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106100
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
658 |
712 |
1.42e-9 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106101
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
658 |
712 |
1.42e-9 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106103
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
157 |
211 |
1.42e-9 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
323 |
371 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117492
AA Change: S853P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: S853P
| 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: ENSMUST00000138115
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197748
AA Change: S861P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: S861P
| 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: ENSMUST00000200343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
161 |
215 |
1.42e-9 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
327 |
375 |
6.46e-3 |
SMART |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,284,307 (GRCm39) |
M300K |
possibly damaging |
Het |
| Adamts14 |
T |
A |
10: 61,034,460 (GRCm39) |
R1143W |
possibly damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,423,981 (GRCm39) |
Y1083C |
probably damaging |
Het |
| Anxa8 |
T |
C |
14: 33,811,547 (GRCm39) |
M34T |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,121,312 (GRCm39) |
E928* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,302,628 (GRCm39) |
F50L |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,296,298 (GRCm39) |
S863G |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,260,530 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
T |
15: 13,051,395 (GRCm39) |
A413T |
probably benign |
Het |
| Cfap96 |
A |
T |
8: 46,426,642 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,623,492 (GRCm39) |
Q294R |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,046,889 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,690,497 (GRCm39) |
Y736C |
possibly damaging |
Het |
| Eno2 |
C |
T |
6: 124,743,618 (GRCm39) |
G107E |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,826,558 (GRCm39) |
Q368R |
probably benign |
Het |
| Gm3633 |
T |
A |
14: 42,462,595 (GRCm39) |
|
probably benign |
Het |
| Gm4987 |
A |
T |
X: 45,544,755 (GRCm39) |
|
noncoding transcript |
Het |
| Gna13 |
G |
A |
11: 109,256,569 (GRCm39) |
R164Q |
probably damaging |
Het |
| Grhl1 |
A |
T |
12: 24,658,057 (GRCm39) |
E351D |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,737 (GRCm39) |
Q280R |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,174,353 (GRCm39) |
|
probably benign |
Het |
| Mrpl52 |
T |
C |
14: 54,664,656 (GRCm39) |
Y39H |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,582,556 (GRCm39) |
|
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,764,610 (GRCm39) |
L338Q |
probably damaging |
Het |
| Nat8l |
A |
T |
5: 34,155,791 (GRCm39) |
Y149F |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,347,520 (GRCm39) |
S351R |
probably benign |
Het |
| Or10w1 |
A |
T |
19: 13,632,540 (GRCm39) |
H249L |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,640,790 (GRCm39) |
T209S |
probably damaging |
Het |
| Or6c8b |
T |
C |
10: 128,882,380 (GRCm39) |
K184R |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,047,916 (GRCm39) |
L46Q |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,192,660 (GRCm39) |
V624E |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,571,379 (GRCm39) |
R444H |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,173 (GRCm39) |
T226S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,634,760 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
G |
A |
10: 79,698,708 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,307,484 (GRCm39) |
V418A |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,141,055 (GRCm39) |
D421V |
probably damaging |
Het |
| Rimkla |
T |
C |
4: 119,335,156 (GRCm39) |
T76A |
possibly damaging |
Het |
| Rtn1 |
A |
G |
12: 72,355,124 (GRCm39) |
V274A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,017 (GRCm39) |
M289K |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,283,382 (GRCm39) |
T476A |
possibly damaging |
Het |
| Ube2i |
C |
A |
17: 25,488,410 (GRCm39) |
Q11H |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,644 (GRCm39) |
C127S |
probably damaging |
Het |
| Uimc1 |
T |
A |
13: 55,182,724 (GRCm39) |
Q619L |
probably benign |
Het |
| Upk3a |
T |
A |
15: 84,903,786 (GRCm39) |
Y162N |
probably damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,832,732 (GRCm39) |
T149I |
possibly damaging |
Het |
| Vmn2r15 |
G |
A |
5: 109,434,602 (GRCm39) |
P701S |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,484,087 (GRCm39) |
I704M |
possibly damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,488,239 (GRCm39) |
E756G |
possibly damaging |
Het |
| Xlr3c |
C |
A |
X: 72,303,639 (GRCm39) |
V102F |
probably benign |
Het |
| Zfp384 |
T |
G |
6: 125,002,016 (GRCm39) |
D220E |
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,776 (GRCm39) |
V879E |
probably benign |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation