Incidental Mutation 'R6679:Usp33'
| ID |
527379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp33
|
| Ensembl Gene |
ENSMUSG00000025437 |
| Gene Name |
ubiquitin specific peptidase 33 |
| Synonyms |
Vdu1, 9830169D19Rik |
| MMRRC Submission |
044798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R6679 (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 152074124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 19
(D19E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026507]
[ENSMUST00000117492]
[ENSMUST00000123237]
[ENSMUST00000197748]
|
| AlphaFold |
Q8R5K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026507
AA Change: D323E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: D323E
| 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: ENSMUST00000117492
AA Change: D323E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: D323E
| 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 |
noncoding transcript
Transcript: ENSMUST00000138575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196811
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197600
AA Change: D19E
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197748
AA Change: D323E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: D323E
| 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: ENSMUST00000198950
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
91% (40/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
| Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
| Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
| Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
| Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
| Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
| Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
| Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
| Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
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 |
|
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'- TGTCTAATGGACCTGCTTCATG -3'
(R):5'- ATCGTTACCTGAGGCTCTGC -3'
Sequencing Primer
(F):5'- CTAATGGACCTGCTTCATGAGGAG -3'
(R):5'- CCGTGTATCTGCACTTTGACGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation