Incidental Mutation 'R5877:Usp33'
ID |
455583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp33
|
Ensembl Gene |
ENSMUSG00000025437 |
Gene Name |
ubiquitin specific peptidase 33 |
Synonyms |
Vdu1, 9830169D19Rik |
MMRRC Submission |
044083-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R5877 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152085113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 583
(M583K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000197748]
|
AlphaFold |
Q8R5K2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026507
AA Change: M583K
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026507 Gene: ENSMUSG00000025437 AA Change: M583K
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: M583K
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113265 Gene: ENSMUSG00000025437 AA Change: M583K
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: ENSMUST00000197325
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197748
AA Change: M591K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000142708 Gene: ENSMUSG00000025437 AA Change: M591K
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: ENSMUST00000198596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200075
|
Meta Mutation Damage Score |
0.6382 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
97% (68/70) |
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 |
Adam6b |
A |
T |
12: 113,453,822 (GRCm39) |
H213L |
probably damaging |
Het |
Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
Atp9b |
C |
T |
18: 80,796,004 (GRCm39) |
V957I |
probably benign |
Het |
Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
Fbxw10 |
A |
T |
11: 62,748,542 (GRCm39) |
N390Y |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
Hif3a |
G |
T |
7: 16,785,071 (GRCm39) |
A181E |
probably damaging |
Het |
Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
Plekhm2 |
A |
C |
4: 141,367,004 (GRCm39) |
I212S |
probably damaging |
Het |
Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
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 |
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 |
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'- CTGGAATCAGGTCAGAATTCAGGG -3'
(R):5'- TTCTCCCTTTGGTCAAGTGG -3'
Sequencing Primer
(F):5'- AAATTTCTGTGCATTCCAGGCCAG -3'
(R):5'- GGTCAAGTGGGGCTTATTTAAG -3'
|
Posted On |
2017-02-10 |