Incidental Mutation 'IGL02095:Usp33'
| ID |
279594 |
| 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: 0.909)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
152052115-152099254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152087431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 699
(F699L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000197748]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026507
AA Change: F699L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: F699L
| 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: F699L
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: F699L
| 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: ENSMUST00000197748
AA Change: F707L
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: F707L
| 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: ENSMUST00000199418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200075
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
| Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
| Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
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 |
|
IGL01335:Usp33
|
APN |
3 |
152,097,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation