Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Usp33'

567485

Institutional Source

Beutler Lab

Gene Symbol

Usp33

Ensembl Gene

ENSMUSG00000025437

Gene Name

ubiquitin specific peptidase 33

Synonyms

Vdu1, 9830169D19Rik

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152052115-152099254 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 152066026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 102 (L102*)

Ref Sequence

ENSEMBL: ENSMUSP00000142708 (fasta)

Gene Model

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

AlphaFold

Q8R5K2

Predicted Effect

probably null
Transcript: ENSMUST00000026507
AA Change: L102*

SMART Domains

Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: L102*

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 null
Transcript: ENSMUST00000117492
AA Change: L102*

SMART Domains

Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: L102*

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

probably null
Transcript: ENSMUST00000197748
AA Change: L102*

SMART Domains

Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: L102*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
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
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
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'- TGCAGTTCATGATGAGGGCC -3'
(R):5'- CCCATTCATTCTGTGCTATGCAAG -3'

Sequencing Primer
(F):5'- GGCCTCTGCAGAAATGTTTTCAAG -3'
(R):5'- TGTGCTATGCAAGAACAAAGC -3'

Posted On

2019-06-26