Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Usp33'

317907

Institutional Source

Beutler Lab

Gene Symbol

Usp33

Ensembl Gene

ENSMUSG00000025437

Gene Name

ubiquitin specific peptidase 33

Synonyms

Vdu1, 9830169D19Rik

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152052115-152099254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152086265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 668 (V668A)

Ref Sequence

ENSEMBL: ENSMUSP00000113265 (fasta)

Gene Model

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

AlphaFold

Q8R5K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026507
AA Change: V668A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: V668A

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: V668A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: V668A

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 damaging
Transcript: ENSMUST00000197748
AA Change: V676A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: V676A

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

0.6174

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Plekhg4	A	G	8: 106,108,096 (GRCm39)	E982G	probably damaging	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Serpinf1	C	T	11: 75,307,245 (GRCm39)	V31I	probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,000,519 (GRCm39)	T166M	probably benign	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	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
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'- AGACAACTGCTGTGACGTGTTTC -3'
(R):5'- TGTAAAACACACTATGTCCCTTTGC -3'

Sequencing Primer
(F):5'- GACGTGTTTCAGCTGCTCTGC -3'
(R):5'- AAACACACTATGTCCCTTTGCTTCTC -3'

Posted On

2015-05-19