Incidental Mutation 'R8333:Usp33'
| ID |
644467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp33
|
| Ensembl Gene |
ENSMUSG00000025437 |
| Gene Name |
ubiquitin specific peptidase 33 |
| Synonyms |
Vdu1, 9830169D19Rik |
| MMRRC Submission |
067861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R8333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152080297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 476
(P476L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026507
AA Change: P476L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: P476L
| 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 damaging
Transcript: ENSMUST00000117492
AA Change: P476L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: P476L
| 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 damaging
Transcript: ENSMUST00000197748
AA Change: P476L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: P476L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
| BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
| Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
| Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
| Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
| Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
| Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
| Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
| Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
| Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
| Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
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 |
|
|
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 |
|
|
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'- TCTCTGAGCTGCAGGAGTAC -3'
(R):5'- CTAGTACAGCAGAAGCAGCAGC -3'
Sequencing Primer
(F):5'- CTCTGAGCTGCAGGAGTACTAATG -3'
(R):5'- GCAGCAGCATCAACATCAATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation