Mutagenetix > Incidental Mutation

Incidental Mutation 'R6226:Usp36'

504357

Institutional Source

Beutler Lab

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

MMRRC Submission

044397-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118150477-118181070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118168100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 86 (S86T)

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: S251T

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

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: S251T

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: S251T

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

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: S251T

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

probably damaging
Transcript: ENSMUST00000144153
AA Change: S86T

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

SMART Domains

Protein: ENSMUSP00000122761
Gene: ENSMUSG00000033909
AA Change: S86T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,293,853 (GRCm39)	T62A	probably benign	Het
Adam33	G	A	2: 130,897,530 (GRCm39)	T265I	probably damaging	Het
Afap1l2	T	C	19: 56,904,560 (GRCm39)	T654A	probably benign	Het
Agrn	A	G	4: 156,258,066 (GRCm39)	S992P	probably damaging	Het
Anapc1	A	G	2: 128,492,292 (GRCm39)	F939L	probably damaging	Het
Anks1	G	A	17: 28,276,304 (GRCm39)	V1016I	probably benign	Het
Ankzf1	A	G	1: 75,173,238 (GRCm39)	T401A	probably benign	Het
Atad1	G	T	19: 32,678,987 (GRCm39)	D105E	probably benign	Het
Carmil2	A	G	8: 106,415,664 (GRCm39)	T313A	possibly damaging	Het
Cdk15	T	C	1: 59,304,792 (GRCm39)	V131A	probably damaging	Het
Cldnd1	A	T	16: 58,551,663 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,948,882 (GRCm39)		probably benign	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Dnah7b	A	C	1: 46,165,828 (GRCm39)	K498Q	probably benign	Het
Dnase2b	A	G	3: 146,290,318 (GRCm39)	Y218H	probably benign	Het
Dsg2	T	A	18: 20,712,506 (GRCm39)	V170D	probably damaging	Het
Dst	T	C	1: 34,309,955 (GRCm39)	V1543A	probably damaging	Het
Ell3	A	T	2: 121,272,258 (GRCm39)	I72K	probably damaging	Het
Fank1	A	G	7: 133,463,927 (GRCm39)	Y41C	probably benign	Het
Foxd3	T	C	4: 99,545,261 (GRCm39)	Y134H	probably damaging	Het
Frmd6	A	G	12: 70,910,685 (GRCm39)		probably benign	Het
Gale	A	G	4: 135,692,916 (GRCm39)	E53G	possibly damaging	Het
Glis3	A	G	19: 28,294,702 (GRCm39)	S699P	probably damaging	Het
Gm12830	T	A	4: 114,702,246 (GRCm39)	M136K	unknown	Het
Grik3	T	C	4: 125,553,582 (GRCm39)	V438A	probably benign	Het
Gsap	A	G	5: 21,422,429 (GRCm39)	N133D	probably damaging	Het
Gsg1	T	A	6: 135,217,110 (GRCm39)	D239V	probably damaging	Het
H2-T10	A	T	17: 36,431,975 (GRCm39)	W23R	probably damaging	Het
Itgae	A	G	11: 73,031,583 (GRCm39)	T1100A	probably benign	Het
Kcnh7	A	T	2: 62,607,903 (GRCm39)	F559L	probably damaging	Het
Kdm5b	G	T	1: 134,536,616 (GRCm39)	R612L	probably damaging	Het
Lrrc74a	T	A	12: 86,795,231 (GRCm39)	N253K	possibly damaging	Het
Mcm3ap	A	G	10: 76,351,540 (GRCm39)	H1961R	possibly damaging	Het
Ncam1	C	T	9: 49,476,304 (GRCm39)	E262K	probably benign	Het
Nckap1	A	G	2: 80,339,125 (GRCm39)	S968P	possibly damaging	Het
Nkapd1	T	C	9: 50,519,070 (GRCm39)	T181A	possibly damaging	Het
Nr2f2	T	G	7: 70,009,744 (GRCm39)	S112R	probably benign	Het
Nup93	T	C	8: 95,013,165 (GRCm39)	W137R	probably damaging	Het
Or10ag53	A	G	2: 87,082,736 (GRCm39)	S152G	probably benign	Het
Or2t26	A	G	11: 49,039,660 (GRCm39)	D192G	possibly damaging	Het
Or4a78	A	T	2: 89,497,333 (GRCm39)	L299H	probably damaging	Het
Or52n1	A	T	7: 104,383,243 (GRCm39)	F109L	probably damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Or8b55	T	C	9: 38,727,666 (GRCm39)	I289T	probably damaging	Het
Otogl	A	T	10: 107,607,067 (GRCm39)	Y2105*	probably null	Het
Pibf1	A	G	14: 99,338,555 (GRCm39)	S24G	probably damaging	Het
Pitx2	C	T	3: 129,009,491 (GRCm39)	R130W	probably damaging	Het
Pkd1l1	T	C	11: 8,851,287 (GRCm39)	N715S	probably benign	Het
Pou6f2	A	T	13: 18,303,739 (GRCm39)	I123N	possibly damaging	Het
Prss29	T	A	17: 25,539,513 (GRCm39)	H35Q	possibly damaging	Het
Ptpn21	A	G	12: 98,646,375 (GRCm39)	F1028L	probably benign	Het
Ptpn21	A	T	12: 98,681,431 (GRCm39)	Y68N	probably damaging	Het
Ptprk	A	G	10: 28,440,099 (GRCm39)	T856A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl22l1	A	G	3: 28,860,676 (GRCm39)	T13A	possibly damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sec14l5	G	A	16: 4,994,429 (GRCm39)	V408I	probably damaging	Het
Serpina5	T	C	12: 104,068,037 (GRCm39)	S33P	possibly damaging	Het
Sgip1	A	G	4: 102,823,392 (GRCm39)	N524S	probably damaging	Het
Shkbp1	C	A	7: 27,051,405 (GRCm39)	R218M	probably null	Het
Sorcs1	T	A	19: 50,169,852 (GRCm39)	I970F	probably damaging	Het
Spg11	A	G	2: 121,918,743 (GRCm39)	V962A	possibly damaging	Het
Sptbn1	A	G	11: 30,086,054 (GRCm39)	M1205T	probably damaging	Het
Sufu	G	A	19: 46,462,093 (GRCm39)	V369M	probably damaging	Het
Tmem98	T	C	11: 80,712,220 (GRCm39)	F219S	probably benign	Het
Trim27	T	C	13: 21,365,086 (GRCm39)		probably benign	Het
Trim43b	T	C	9: 88,973,328 (GRCm39)	E135G	possibly damaging	Het
Ube2m	A	G	7: 12,769,815 (GRCm39)	V110A	probably damaging	Het
Ugt2b36	A	G	5: 87,239,989 (GRCm39)	V132A	probably damaging	Het
Zfp941	A	T	7: 140,392,398 (GRCm39)	D320E	probably benign	Het

Other mutations in Usp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Usp36	APN	11	118,155,646 (GRCm39)	missense	possibly damaging	0.76
IGL01115:Usp36	APN	11	118,176,786 (GRCm39)	missense	probably damaging	1.00
IGL01720:Usp36	APN	11	118,165,828 (GRCm39)	missense	probably damaging	0.99
IGL02410:Usp36	APN	11	118,167,011 (GRCm39)	missense	probably damaging	1.00
IGL02700:Usp36	APN	11	118,166,983 (GRCm39)	missense	possibly damaging	0.95
IGL02926:Usp36	APN	11	118,155,609 (GRCm39)	missense	probably benign	0.22
IGL03145:Usp36	APN	11	118,170,067 (GRCm39)	missense	probably damaging	1.00
IGL03203:Usp36	APN	11	118,176,636 (GRCm39)	missense	probably benign	0.42
IGL03265:Usp36	APN	11	118,155,635 (GRCm39)	missense	possibly damaging	0.65
R0482:Usp36	UTSW	11	118,156,020 (GRCm39)	missense	probably benign	0.21
R0499:Usp36	UTSW	11	118,164,397 (GRCm39)	missense	probably damaging	0.98
R0606:Usp36	UTSW	11	118,153,854 (GRCm39)	splice site	probably benign
R0646:Usp36	UTSW	11	118,163,847 (GRCm39)	missense	probably damaging	1.00
R1579:Usp36	UTSW	11	118,175,771 (GRCm39)	missense	probably damaging	1.00
R1646:Usp36	UTSW	11	118,164,392 (GRCm39)	missense	probably damaging	1.00
R1716:Usp36	UTSW	11	118,162,957 (GRCm39)	critical splice donor site	probably null
R1886:Usp36	UTSW	11	118,163,784 (GRCm39)	missense	probably damaging	1.00
R2014:Usp36	UTSW	11	118,153,334 (GRCm39)	splice site	probably benign
R2068:Usp36	UTSW	11	118,165,844 (GRCm39)	missense	possibly damaging	0.80
R2146:Usp36	UTSW	11	118,159,491 (GRCm39)	missense	probably benign	0.02
R2191:Usp36	UTSW	11	118,175,849 (GRCm39)	missense	possibly damaging	0.95
R2899:Usp36	UTSW	11	118,167,582 (GRCm39)	splice site	probably benign
R3176:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3177:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3276:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3277:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3615:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3616:Usp36	UTSW	11	118,167,585 (GRCm39)	critical splice donor site	probably null
R3768:Usp36	UTSW	11	118,153,878 (GRCm39)	missense	probably damaging	1.00
R3899:Usp36	UTSW	11	118,170,650 (GRCm39)	missense	possibly damaging	0.90
R3900:Usp36	UTSW	11	118,170,650 (GRCm39)	missense	possibly damaging	0.90
R4484:Usp36	UTSW	11	118,176,621 (GRCm39)	missense	probably damaging	0.99
R4809:Usp36	UTSW	11	118,153,896 (GRCm39)	missense	probably damaging	1.00
R5135:Usp36	UTSW	11	118,155,731 (GRCm39)	missense	possibly damaging	0.58
R5323:Usp36	UTSW	11	118,156,020 (GRCm39)	missense	probably benign	0.21
R6266:Usp36	UTSW	11	118,159,411 (GRCm39)	missense	probably damaging	1.00
R7191:Usp36	UTSW	11	118,159,660 (GRCm39)	missense	probably benign	0.39
R7215:Usp36	UTSW	11	118,155,980 (GRCm39)	missense	possibly damaging	0.87
R7289:Usp36	UTSW	11	118,164,355 (GRCm39)	missense	probably damaging	1.00
R7535:Usp36	UTSW	11	118,152,872 (GRCm39)	missense	possibly damaging	0.92
R7675:Usp36	UTSW	11	118,154,522 (GRCm39)	missense	probably benign	0.11
R7843:Usp36	UTSW	11	118,176,791 (GRCm39)	missense	probably damaging	1.00
R8228:Usp36	UTSW	11	118,155,716 (GRCm39)	missense	possibly damaging	0.77
R8902:Usp36	UTSW	11	118,165,840 (GRCm39)	missense	probably damaging	1.00
R8935:Usp36	UTSW	11	118,167,657 (GRCm39)	critical splice acceptor site	probably null
R8995:Usp36	UTSW	11	118,175,825 (GRCm39)	missense	probably damaging	1.00
R9024:Usp36	UTSW	11	118,166,983 (GRCm39)	missense	possibly damaging	0.95
R9325:Usp36	UTSW	11	118,160,031 (GRCm39)	missense	possibly damaging	0.69
R9529:Usp36	UTSW	11	118,159,461 (GRCm39)	nonsense	probably null
R9774:Usp36	UTSW	11	118,153,875 (GRCm39)	missense	probably damaging	1.00
X0020:Usp36	UTSW	11	118,164,439 (GRCm39)	missense	probably damaging	1.00
Z1177:Usp36	UTSW	11	118,167,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCCCCATCATCATACAC -3'
(R):5'- GAGGTTCTGTAAGGAGCTCAGG -3'

Sequencing Primer
(F):5'- ATCATACACCATGCTTCTCCGG -3'
(R):5'- AGCACTGCTGGGGGCTTAG -3'

Posted On

2018-02-28