Incidental Mutation 'R7569:Usp33'
| ID |
585625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp33
|
| Ensembl Gene |
ENSMUSG00000025437 |
| Gene Name |
ubiquitin specific peptidase 33 |
| Synonyms |
Vdu1, 9830169D19Rik |
| MMRRC Submission |
045657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R7569 (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 A
at 152097302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 840
(I840N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000106100]
[ENSMUST00000106103]
[ENSMUST00000117492]
[ENSMUST00000197748]
[ENSMUST00000200570]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026507
AA Change: I828N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: I828N
| 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: 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: 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: I832N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: I832N
| 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 damaging
Transcript: ENSMUST00000197748
AA Change: I840N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: I840N
| 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 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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 |
|---|
| 9330182O14Rik |
A |
T |
15: 40,008,344 (GRCm39) |
T73S |
unknown |
Het |
| Acvrl1 |
A |
G |
15: 101,033,636 (GRCm39) |
Q106R |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,306,996 (GRCm39) |
D329E |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,289,900 (GRCm39) |
D1844E |
probably damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Apol6 |
A |
C |
15: 76,934,898 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,629,506 (GRCm39) |
V618M |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,619,046 (GRCm39) |
T113A |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,093,151 (GRCm39) |
H769L |
probably benign |
Het |
| Bcl11a |
G |
T |
11: 24,035,458 (GRCm39) |
E65* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,905,077 (GRCm39) |
R1290L |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,819,063 (GRCm39) |
E465G |
probably benign |
Het |
| Cav2 |
T |
A |
6: 17,282,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,957,539 (GRCm39) |
A848V |
probably damaging |
Het |
| Col8a1 |
T |
A |
16: 57,447,555 (GRCm39) |
I652F |
unknown |
Het |
| Cul4a |
A |
G |
8: 13,173,493 (GRCm39) |
N180S |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,287,327 (GRCm39) |
S214P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,323,271 (GRCm39) |
V1197A |
possibly damaging |
Het |
| Dynlt1f |
A |
G |
17: 6,923,181 (GRCm39) |
S7P |
not run |
Het |
| Eef1ece2 |
T |
A |
16: 20,461,237 (GRCm39) |
Y641* |
probably null |
Het |
| Epha1 |
T |
A |
6: 42,342,356 (GRCm39) |
T331S |
possibly damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,847 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,978 (GRCm39) |
V2610A |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,141,046 (GRCm39) |
L651P |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,298,661 (GRCm39) |
Y361C |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,142 (GRCm39) |
V349A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,977,388 (GRCm39) |
R912G |
probably benign |
Het |
| Mtarc2 |
A |
T |
1: 184,573,622 (GRCm39) |
F92Y |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,900,433 (GRCm39) |
H459Q |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 70,999,869 (GRCm39) |
M817V |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,225,026 (GRCm39) |
R345G |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,244,019 (GRCm39) |
A18T |
possibly damaging |
Het |
| Or4d6 |
T |
C |
19: 12,086,385 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,244,479 (GRCm39) |
V248A |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,540 (GRCm39) |
F296S |
possibly damaging |
Het |
| Pramel51 |
A |
T |
12: 88,143,085 (GRCm39) |
Y373N |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,732,083 (GRCm39) |
F19L |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,832,003 (GRCm39) |
T226S |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,140,194 (GRCm39) |
N132K |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,355,063 (GRCm39) |
L379Q |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,499,892 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,672,479 (GRCm39) |
I814T |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,272,584 (GRCm39) |
G352R |
probably damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,276 (GRCm39) |
T357A |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,695 (GRCm39) |
D94E |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,183,220 (GRCm39) |
Y1018H |
probably benign |
Het |
| Srebf1 |
G |
T |
11: 60,090,947 (GRCm39) |
T1069K |
possibly damaging |
Het |
| St3gal3 |
A |
G |
4: 117,821,553 (GRCm39) |
V123A |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,030,310 (GRCm39) |
Y188C |
unknown |
Het |
| Styxl2 |
T |
C |
1: 165,935,604 (GRCm39) |
D198G |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,513,430 (GRCm39) |
F186L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,164 (GRCm39) |
T1120A |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,446,440 (GRCm39) |
S430T |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,837,411 (GRCm39) |
I573L |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,725,581 (GRCm39) |
S7P |
probably benign |
Het |
| U2af1l4 |
A |
T |
7: 30,262,982 (GRCm39) |
I24F |
probably damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,601,544 (GRCm39) |
I698S |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,111,896 (GRCm39) |
P12L |
possibly damaging |
Het |
| Zfp507 |
T |
A |
7: 35,493,969 (GRCm39) |
E358V |
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 |
|
|
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'- GAGCAACATCTCACCTTTCTTG -3'
(R):5'- AGCCTGACCATTTCTGAACTAGG -3'
Sequencing Primer
(F):5'- GGTTGTTTGGGGTCAAATGAAATCTC -3'
(R):5'- ATACACCAGTAATACCAACAGTTGGG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation