Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Usp33'

187789

Institutional Source

Beutler Lab

Gene Symbol

Usp33

Ensembl Gene

ENSMUSG00000025437

Gene Name

ubiquitin specific peptidase 33

Synonyms

Vdu1, 9830169D19Rik

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152052115-152099254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152073919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 255 (E255G)

Ref Sequence

ENSEMBL: ENSMUSP00000026507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000123237] [ENSMUST00000197748]

AlphaFold

Q8R5K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026507
AA Change: E255G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: E255G

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: E255G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: E255G

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

probably benign
Transcript: ENSMUST00000197600

Predicted Effect

probably benign
Transcript: ENSMUST00000197748
AA Change: E255G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: E255G

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,725,161 (GRCm39)		probably null	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,464,561 (GRCm39)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,877,093 (GRCm39)		probably null	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,133,491 (GRCm39)	V650D	probably benign	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp408	G	A	2: 91,476,353 (GRCm39)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	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
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

Predicted Primers

PCR Primer
(F):5'- ACAAAGCATGGGGCTGTGTACC -3'
(R):5'- TTACCTGAGGCTCTGCCGTGTATC -3'

Sequencing Primer
(F):5'- CATGGGGCTGTGTACCTATTTAG -3'
(R):5'- AGGTCAACTGTTTCACACACTG -3'

Posted On

2014-05-09