Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Usp36'

370929

Institutional Source

Beutler Lab

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118259651-118290244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118263070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 840 (L840R)

Ref Sequence

ENSEMBL: ENSMUSP00000122761 (fasta)

Gene Model

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

AlphaFold

B1AQJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000092382
AA Change: L1005R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: L1005R

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 damaging
Transcript: ENSMUST00000106296
AA Change: L1005R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: L1005R

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 damaging
Transcript: ENSMUST00000144153
AA Change: L840R

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

SMART Domains

Protein: ENSMUSP00000122761
Gene: ENSMUSG00000033909
AA Change: L840R

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

0.3045

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631 (GRCm38)	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856 (GRCm38)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,800,242 (GRCm38)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690 (GRCm38)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479 (GRCm38)	W200*	probably null	Het
AI661453	C	A	17: 47,467,187 (GRCm38)		probably benign	Het
Aldh1l2	A	G	10: 83,506,632 (GRCm38)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214 (GRCm38)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566 (GRCm38)	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649 (GRCm38)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214 (GRCm38)		probably benign	Het
Arhgap42	A	G	9: 9,180,117 (GRCm38)	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139 (GRCm38)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744 (GRCm38)		probably null	Het
Cabp4	T	C	19: 4,139,291 (GRCm38)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570 (GRCm38)		probably benign	Het
Chfr	C	T	5: 110,158,834 (GRCm38)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897 (GRCm38)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250 (GRCm38)	T113I	probably benign	Het
Col12a1	T	A	9: 79,693,567 (GRCm38)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,998,661 (GRCm38)	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426 (GRCm38)	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842 (GRCm38)		probably benign	Het
Cts6	A	T	13: 61,202,181 (GRCm38)	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343 (GRCm38)	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807 (GRCm38)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014 (GRCm38)		probably null	Het
Dnmt3a	A	T	12: 3,900,352 (GRCm38)	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596 (GRCm38)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621 (GRCm38)	T765S	possibly damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Fam189a1	G	A	7: 64,776,740 (GRCm38)	T159I	probably damaging	Het
Fam227b	T	A	2: 126,116,125 (GRCm38)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 109,143,390 (GRCm38)	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800 (GRCm38)		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421 (GRCm38)	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895 (GRCm38)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gjd2	C	T	2: 114,011,541 (GRCm38)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154 (GRCm38)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436 (GRCm38)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823 (GRCm38)	R40W	unknown	Het
Kif1c	C	T	11: 70,726,357 (GRCm38)	A839V	probably benign	Het
Krt31	G	A	11: 100,049,922 (GRCm38)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526 (GRCm38)	Y163C	probably damaging	Het
Mars	G	T	10: 127,300,215 (GRCm38)	T535K	probably damaging	Het
Mdc1	T	C	17: 35,849,101 (GRCm38)		probably null	Het
Micu1	C	T	10: 59,740,822 (GRCm38)	H167Y	probably benign	Het
Minos1	C	G	4: 139,130,957 (GRCm38)	W10S	probably damaging	Het
Mrgprb1	C	T	7: 48,447,991 (GRCm38)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762 (GRCm38)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160 (GRCm38)		probably benign	Het
Olfr1085	T	A	2: 86,657,685 (GRCm38)	M258L	possibly damaging	Het
Olfr1294	C	T	2: 111,537,611 (GRCm38)	C226Y	probably benign	Het
Olfr46	A	G	7: 140,611,074 (GRCm38)	K295E	probably damaging	Het
Olfr598	T	A	7: 103,328,523 (GRCm38)	Y12*	probably null	Het
Pex16	T	C	2: 92,376,638 (GRCm38)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081 (GRCm38)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855 (GRCm38)	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708 (GRCm38)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175 (GRCm38)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974 (GRCm38)		probably benign	Het
Rcc2	G	A	4: 140,717,042 (GRCm38)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,105,949 (GRCm38)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,101,965 (GRCm38)		probably benign	Het
Scn11a	G	T	9: 119,819,870 (GRCm38)	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173 (GRCm38)	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375 (GRCm38)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474 (GRCm38)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002 (GRCm38)	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120 (GRCm38)		probably null	Het
Stim2	T	C	5: 54,110,613 (GRCm38)	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985 (GRCm38)	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946 (GRCm38)	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930 (GRCm38)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256 (GRCm38)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021 (GRCm38)	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842 (GRCm38)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676 (GRCm38)		probably null	Het
Usp50	C	A	2: 126,777,853 (GRCm38)		probably benign	Het
Vangl2	A	G	1: 172,009,663 (GRCm38)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867 (GRCm38)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745 (GRCm38)	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445 (GRCm38)	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292 (GRCm38)	E112*	probably null	Het

Other mutations in Usp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Usp36	APN	11	118,264,820 (GRCm38)	missense	possibly damaging	0.76
IGL01115:Usp36	APN	11	118,285,960 (GRCm38)	missense	probably damaging	1.00
IGL01720:Usp36	APN	11	118,275,002 (GRCm38)	missense	probably damaging	0.99
IGL02410:Usp36	APN	11	118,276,185 (GRCm38)	missense	probably damaging	1.00
IGL02700:Usp36	APN	11	118,276,157 (GRCm38)	missense	possibly damaging	0.95
IGL02926:Usp36	APN	11	118,264,783 (GRCm38)	missense	probably benign	0.22
IGL03145:Usp36	APN	11	118,279,241 (GRCm38)	missense	probably damaging	1.00
IGL03203:Usp36	APN	11	118,285,810 (GRCm38)	missense	probably benign	0.42
IGL03265:Usp36	APN	11	118,264,809 (GRCm38)	missense	possibly damaging	0.65
R0482:Usp36	UTSW	11	118,265,194 (GRCm38)	missense	probably benign	0.21
R0499:Usp36	UTSW	11	118,273,571 (GRCm38)	missense	probably damaging	0.98
R0606:Usp36	UTSW	11	118,263,028 (GRCm38)	splice site	probably benign
R0646:Usp36	UTSW	11	118,273,021 (GRCm38)	missense	probably damaging	1.00
R1579:Usp36	UTSW	11	118,284,945 (GRCm38)	missense	probably damaging	1.00
R1646:Usp36	UTSW	11	118,273,566 (GRCm38)	missense	probably damaging	1.00
R1716:Usp36	UTSW	11	118,272,131 (GRCm38)	critical splice donor site	probably null
R1886:Usp36	UTSW	11	118,272,958 (GRCm38)	missense	probably damaging	1.00
R2014:Usp36	UTSW	11	118,262,508 (GRCm38)	splice site	probably benign
R2068:Usp36	UTSW	11	118,275,018 (GRCm38)	missense	possibly damaging	0.80
R2146:Usp36	UTSW	11	118,268,665 (GRCm38)	missense	probably benign	0.02
R2191:Usp36	UTSW	11	118,285,023 (GRCm38)	missense	possibly damaging	0.95
R2899:Usp36	UTSW	11	118,276,756 (GRCm38)	splice site	probably benign
R3176:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3177:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3276:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3277:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3615:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3616:Usp36	UTSW	11	118,276,759 (GRCm38)	critical splice donor site	probably null
R3768:Usp36	UTSW	11	118,263,052 (GRCm38)	missense	probably damaging	1.00
R3899:Usp36	UTSW	11	118,279,824 (GRCm38)	missense	possibly damaging	0.90
R3900:Usp36	UTSW	11	118,279,824 (GRCm38)	missense	possibly damaging	0.90
R4484:Usp36	UTSW	11	118,285,795 (GRCm38)	missense	probably damaging	0.99
R5135:Usp36	UTSW	11	118,264,905 (GRCm38)	missense	possibly damaging	0.58
R5323:Usp36	UTSW	11	118,265,194 (GRCm38)	missense	probably benign	0.21
R6226:Usp36	UTSW	11	118,277,274 (GRCm38)	missense	probably damaging	1.00
R6266:Usp36	UTSW	11	118,268,585 (GRCm38)	missense	probably damaging	1.00
R7191:Usp36	UTSW	11	118,268,834 (GRCm38)	missense	probably benign	0.39
R7215:Usp36	UTSW	11	118,265,154 (GRCm38)	missense	possibly damaging	0.87
R7289:Usp36	UTSW	11	118,273,529 (GRCm38)	missense	probably damaging	1.00
R7535:Usp36	UTSW	11	118,262,046 (GRCm38)	missense	possibly damaging	0.92
R7675:Usp36	UTSW	11	118,263,696 (GRCm38)	missense	probably benign	0.11
R7843:Usp36	UTSW	11	118,285,965 (GRCm38)	missense	probably damaging	1.00
R8228:Usp36	UTSW	11	118,264,890 (GRCm38)	missense	possibly damaging	0.77
R8902:Usp36	UTSW	11	118,275,014 (GRCm38)	missense	probably damaging	1.00
R8935:Usp36	UTSW	11	118,276,831 (GRCm38)	critical splice acceptor site	probably null
R8995:Usp36	UTSW	11	118,284,999 (GRCm38)	missense	probably damaging	1.00
R9024:Usp36	UTSW	11	118,276,157 (GRCm38)	missense	possibly damaging	0.95
R9325:Usp36	UTSW	11	118,269,205 (GRCm38)	missense	possibly damaging	0.69
R9529:Usp36	UTSW	11	118,268,635 (GRCm38)	nonsense	probably null
R9774:Usp36	UTSW	11	118,263,049 (GRCm38)	missense	probably damaging	1.00
X0020:Usp36	UTSW	11	118,273,613 (GRCm38)	missense	probably damaging	1.00
Z1177:Usp36	UTSW	11	118,276,200 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAACTCCGCTGGCTTGTGG -3'
(R):5'- ATTATCACCAGAGAGTGAGTGTC -3'

Sequencing Primer
(F):5'- CTGGCTTGTGGTCCCCATG -3'
(R):5'- CACCAGAGAGTGAGTGTCTGCTG -3'

Posted On

2016-02-04