Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Usp36'

54166

Institutional Source

Beutler Lab

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0606 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

118259651-118290244 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 118263028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092382] [ENSMUST00000106296] [ENSMUST00000144153]

AlphaFold

B1AQJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000092382

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909

Domain	Start	End	E-Value	Type
Blast:NTR	1	29	3e-7	BLAST
Pfam:UCH	121	420	2.6e-55	PFAM
Pfam:UCH_1	122	402	3.6e-26	PFAM
low complexity region	540	558	N/A	INTRINSIC
low complexity region	606	617	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	744	763	N/A	INTRINSIC
low complexity region	830	839	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	933	943	N/A	INTRINSIC
low complexity region	1055	1071	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106296

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909

Domain	Start	End	E-Value	Type
Blast:NTR	1	29	3e-7	BLAST
Pfam:UCH	121	420	2.1e-49	PFAM
Pfam:UCH_1	122	402	2.2e-23	PFAM
low complexity region	540	558	N/A	INTRINSIC
low complexity region	606	617	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	744	763	N/A	INTRINSIC
low complexity region	830	839	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	933	943	N/A	INTRINSIC
low complexity region	1055	1071	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141647

Predicted Effect

probably benign
Transcript: ENSMUST00000144153

SMART Domains

Protein: ENSMUSP00000122761
Gene: ENSMUSG00000033909

Domain	Start	End	E-Value	Type
Pfam:UCH	1	255	1e-40	PFAM
Pfam:UCH_1	4	237	2.9e-17	PFAM
low complexity region	375	393	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	513	528	N/A	INTRINSIC
low complexity region	579	598	N/A	INTRINSIC
low complexity region	665	674	N/A	INTRINSIC
low complexity region	724	734	N/A	INTRINSIC
low complexity region	768	778	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148998

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene trap allele display lethality before implantation and arrest at the morula stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598	Y211H	probably damaging	Het
Actn1	A	T	12: 80,174,647		probably benign	Het
Adtrp	A	G	13: 41,767,405	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494		probably benign	Het
Ccr3	T	A	9: 124,028,802	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617		probably benign	Het
Chst5	A	G	8: 111,890,919	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586		probably benign	Het
Col4a6	A	G	X: 141,192,223		probably benign	Het
Csmd3	T	C	15: 48,457,662	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746		probably benign	Het
Dhx58	T	A	11: 100,702,251	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963		probably benign	Het
Fryl	T	A	5: 73,124,734	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696	W15R	probably benign	Het
Gif	A	T	19: 11,752,294	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653	K63*	probably null	Het
Gne	C	T	4: 44,042,244	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798		probably benign	Het
Ift172	A	G	5: 31,254,313	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261		probably benign	Het
Itgb1	A	T	8: 128,722,372		probably benign	Het
Kctd21	G	A	7: 97,347,601	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290		probably benign	Het
Nkx3-1	G	A	14: 69,191,006		probably benign	Het
Npat	T	C	9: 53,556,481		probably null	Het
Nrxn1	T	C	17: 90,565,373	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087		probably benign	Het
Ppm1d	C	T	11: 85,345,877	T494I	probably benign	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194		probably benign	Het
Ptprg	T	A	14: 12,154,131	S617R	probably benign	Het
R3hdm2	G	A	10: 127,444,444	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723	H221L	probably benign	Het
Smo	A	C	6: 29,753,604	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300		probably benign	Het
Snf8	G	T	11: 96,034,973		probably benign	Het
Spata31d1a	T	C	13: 59,702,431	S628G	probably benign	Het
Sphkap	A	T	1: 83,280,424	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908		probably benign	Het
Ttbk2	A	T	2: 120,773,872	M215K	probably damaging	Het
Ttc8	C	T	12: 98,943,459		probably benign	Het
Ube3c	A	G	5: 29,590,928	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983		probably benign	Het
Vmn2r102	T	C	17: 19,678,844	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208		probably benign	Het
Zar1	G	T	5: 72,580,543	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797		probably benign	Het
Zfp454	A	G	11: 50,874,185	F140S	probably benign	Het

Other mutations in Usp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Usp36	APN	11	118264820	missense	possibly damaging	0.76
IGL01115:Usp36	APN	11	118285960	missense	probably damaging	1.00
IGL01720:Usp36	APN	11	118275002	missense	probably damaging	0.99
IGL02410:Usp36	APN	11	118276185	missense	probably damaging	1.00
IGL02700:Usp36	APN	11	118276157	missense	possibly damaging	0.95
IGL02926:Usp36	APN	11	118264783	missense	probably benign	0.22
IGL03145:Usp36	APN	11	118279241	missense	probably damaging	1.00
IGL03203:Usp36	APN	11	118285810	missense	probably benign	0.42
IGL03265:Usp36	APN	11	118264809	missense	possibly damaging	0.65
R0482:Usp36	UTSW	11	118265194	missense	probably benign	0.21
R0499:Usp36	UTSW	11	118273571	missense	probably damaging	0.98
R0646:Usp36	UTSW	11	118273021	missense	probably damaging	1.00
R1579:Usp36	UTSW	11	118284945	missense	probably damaging	1.00
R1646:Usp36	UTSW	11	118273566	missense	probably damaging	1.00
R1716:Usp36	UTSW	11	118272131	critical splice donor site	probably null
R1886:Usp36	UTSW	11	118272958	missense	probably damaging	1.00
R2014:Usp36	UTSW	11	118262508	splice site	probably benign
R2068:Usp36	UTSW	11	118275018	missense	possibly damaging	0.80
R2146:Usp36	UTSW	11	118268665	missense	probably benign	0.02
R2191:Usp36	UTSW	11	118285023	missense	possibly damaging	0.95
R2899:Usp36	UTSW	11	118276756	splice site	probably benign
R3176:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3177:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3276:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3277:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3615:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3616:Usp36	UTSW	11	118276759	critical splice donor site	probably null
R3768:Usp36	UTSW	11	118263052	missense	probably damaging	1.00
R3899:Usp36	UTSW	11	118279824	missense	possibly damaging	0.90
R3900:Usp36	UTSW	11	118279824	missense	possibly damaging	0.90
R4484:Usp36	UTSW	11	118285795	missense	probably damaging	0.99
R4809:Usp36	UTSW	11	118263070	missense	probably damaging	1.00
R5135:Usp36	UTSW	11	118264905	missense	possibly damaging	0.58
R5323:Usp36	UTSW	11	118265194	missense	probably benign	0.21
R6226:Usp36	UTSW	11	118277274	missense	probably damaging	1.00
R6266:Usp36	UTSW	11	118268585	missense	probably damaging	1.00
R7191:Usp36	UTSW	11	118268834	missense	probably benign	0.39
R7215:Usp36	UTSW	11	118265154	missense	possibly damaging	0.87
R7289:Usp36	UTSW	11	118273529	missense	probably damaging	1.00
R7535:Usp36	UTSW	11	118262046	missense	possibly damaging	0.92
R7675:Usp36	UTSW	11	118263696	missense	probably benign	0.11
R7843:Usp36	UTSW	11	118285965	missense	probably damaging	1.00
R8228:Usp36	UTSW	11	118264890	missense	possibly damaging	0.77
R8902:Usp36	UTSW	11	118275014	missense	probably damaging	1.00
R8935:Usp36	UTSW	11	118276831	critical splice acceptor site	probably null
R8995:Usp36	UTSW	11	118284999	missense	probably damaging	1.00
R9024:Usp36	UTSW	11	118276157	missense	possibly damaging	0.95
R9325:Usp36	UTSW	11	118269205	missense	possibly damaging	0.69
R9529:Usp36	UTSW	11	118268635	nonsense	probably null
R9774:Usp36	UTSW	11	118263049	missense	probably damaging	1.00
X0020:Usp36	UTSW	11	118273613	missense	probably damaging	1.00
Z1177:Usp36	UTSW	11	118276200	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCCCACTTTAGGAAAAGGCCC -3'
(R):5'- TTCCGCAATGCCAAGACCAGGATG -3'

Sequencing Primer
(F):5'- GGAAAAGGCCCTTTTGTTCAC -3'
(R):5'- GACCAGGATGCGTGGTG -3'

Posted On

2013-07-11