Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Usp36'

583537

Institutional Source

Beutler Lab

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

MMRRC Submission

045607-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118150477-118181070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118152872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1084 (S1084T)

Ref Sequence

ENSEMBL: ENSMUSP00000090036 (fasta)

Gene Model

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

AlphaFold

B1AQJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092382
AA Change: S1084T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: S1084T

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

possibly damaging
Transcript: ENSMUST00000106296
AA Change: S1084T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: S1084T

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 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

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,837,463 (GRCm39)	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,652,067 (GRCm39)	T415A	probably benign	Het
Akt3	A	T	1: 176,924,600 (GRCm39)	V165D	probably damaging	Het
Cbr2	T	A	11: 120,620,628 (GRCm39)	I219F	probably damaging	Het
Cdh20	T	A	1: 104,902,768 (GRCm39)	D486E	probably damaging	Het
Cenpe	A	G	3: 134,949,523 (GRCm39)	S103G	possibly damaging	Het
Chd4	T	A	6: 125,105,836 (GRCm39)	S1818T	probably benign	Het
Chst5	T	C	8: 112,616,795 (GRCm39)	D275G	probably damaging	Het
Clca3a1	A	G	3: 144,724,328 (GRCm39)	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,058,716 (GRCm39)	Y239H	probably benign	Het
Czib	T	G	4: 107,752,097 (GRCm39)	S159A	probably benign	Het
Ddx25	A	G	9: 35,454,951 (GRCm39)	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,186,646 (GRCm39)	L265P	probably damaging	Het
Dis3	A	G	14: 99,327,415 (GRCm39)	S363P	probably benign	Het
Disp3	T	C	4: 148,327,323 (GRCm39)	E1187G	probably damaging	Het
Dop1b	G	A	16: 93,603,249 (GRCm39)	G2061R	probably damaging	Het
Dsp	T	C	13: 38,376,765 (GRCm39)	S1517P	probably benign	Het
Epg5	T	A	18: 78,076,141 (GRCm39)	V2513E	probably benign	Het
Fryl	T	A	5: 73,255,539 (GRCm39)	T831S	probably benign	Het
Gm6309	A	T	5: 146,105,100 (GRCm39)	V271D	probably damaging	Het
H2-M2	G	T	17: 37,793,528 (GRCm39)	S159R	probably benign	Het
Helq	A	G	5: 100,937,999 (GRCm39)		probably null	Het
Herc1	G	C	9: 66,382,135 (GRCm39)	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 106,245,755 (GRCm39)	I87F	probably damaging	Het
Ice2	A	G	9: 69,339,360 (GRCm39)	N959S	probably damaging	Het
Ifi47	T	A	11: 48,987,452 (GRCm39)	D406E	probably damaging	Het
Ifit3	T	G	19: 34,565,280 (GRCm39)	S275R	probably damaging	Het
Insl5	C	A	4: 102,875,395 (GRCm39)	K118N	probably damaging	Het
Irf7	A	T	7: 140,844,550 (GRCm39)	F158I	probably benign	Het
Kat2b	T	C	17: 53,931,431 (GRCm39)	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,619,746 (GRCm39)	N102Y	probably damaging	Het
Krt13	C	T	11: 100,008,824 (GRCm39)	G410S	unknown	Het
Larp6	A	T	9: 60,631,437 (GRCm39)	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,392,683 (GRCm39)	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,840,452 (GRCm39)	N655D	probably benign	Het
Nbas	T	A	12: 13,329,390 (GRCm39)	S112T	probably damaging	Het
Neb	A	G	2: 52,055,115 (GRCm39)		probably null	Het
Noxred1	G	A	12: 87,280,206 (GRCm39)	A42V	probably benign	Het
Olfm5	G	A	7: 103,803,444 (GRCm39)	P340S	possibly damaging	Het
Or11h4	G	A	14: 50,974,122 (GRCm39)	P166S	probably benign	Het
Or2l5	T	C	16: 19,333,544 (GRCm39)	T281A	probably damaging	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Or5m8	T	A	2: 85,822,245 (GRCm39)	V28E	probably benign	Het
Or9i1b	A	G	19: 13,896,449 (GRCm39)	K22E	probably benign	Het
Pccb	A	T	9: 100,876,615 (GRCm39)		probably null	Het
Pnn	T	A	12: 59,118,923 (GRCm39)	V502E	probably benign	Het
Pole2	A	T	12: 69,269,203 (GRCm39)	I98K	probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 28,838,484 (GRCm39)	K111E	probably benign	Het
Rbbp6	G	A	7: 122,589,366 (GRCm39)	M351I	probably benign	Het
Rgs19	T	G	2: 181,333,101 (GRCm39)	H53P	probably damaging	Het
Rin1	A	T	19: 5,102,564 (GRCm39)	T369S	probably benign	Het
Rnaset2b	G	A	17: 7,259,138 (GRCm39)	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,683,899 (GRCm39)	P379S	probably damaging	Het
Sbno1	A	G	5: 124,551,342 (GRCm39)	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,747,325 (GRCm39)	L29Q	unknown	Het
Slc16a14	T	C	1: 84,890,843 (GRCm39)	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,147,342 (GRCm39)	F340S	probably damaging	Het
Slc6a4	T	G	11: 76,905,976 (GRCm39)	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,558,921 (GRCm39)	V651I	possibly damaging	Het
Susd5	C	T	9: 113,893,108 (GRCm39)	A62V	possibly damaging	Het
Syt1	T	A	10: 108,463,283 (GRCm39)		probably null	Het
Taf10	T	C	7: 105,390,117 (GRCm39)	I218T	probably benign	Het
Tas1r1	C	A	4: 152,112,819 (GRCm39)	V745F	probably benign	Het
Tas2r125	C	A	6: 132,887,287 (GRCm39)	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,430,523 (GRCm39)	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,624 (GRCm39)	Q1184*	probably null	Het
Treml2	T	A	17: 48,609,847 (GRCm39)	V93D	probably damaging	Het
Trim11	G	A	11: 58,872,891 (GRCm39)	E192K	probably damaging	Het
Trim43a	A	G	9: 88,470,201 (GRCm39)	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,588 (GRCm39)	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960 (GRCm39)	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,623,305 (GRCm39)	S235G	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Vps39	T	A	2: 120,155,176 (GRCm39)	N550I	probably damaging	Het
Wdr47	A	G	3: 108,537,027 (GRCm39)	I572V	probably benign	Het
Zfp112	A	T	7: 23,826,135 (GRCm39)	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,881,878 (GRCm39)	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487 (GRCm39)	D524G	probably benign	Het
Zfp90	A	T	8: 107,150,900 (GRCm39)	K204N	possibly damaging	Het
Zmym2	T	C	14: 57,194,536 (GRCm39)	S1265P	probably damaging	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
R6226:Usp36	UTSW	11	118,168,100 (GRCm39)	missense	probably damaging	1.00
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
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'- GCACGCCAGATATACACATATGAG -3'
(R):5'- GCAAATAGGGATGGGACCTC -3'

Sequencing Primer
(F):5'- GCCAGATATACACATATGAGCTAAC -3'
(R):5'- CATCAGAGGGCGCCATACATG -3'

Posted On

2019-10-17