Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02700:Usp36'

304097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL02700

Quality Score

Status

Chromosome

Chromosomal Location

118150477-118181070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118166983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 298 (N298S)

Ref Sequence

ENSEMBL: ENSMUSP00000101903 (fasta)

Gene Model

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

AlphaFold

B1AQJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092382
AA Change: N298S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: N298S

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: N298S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: N298S

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

possibly damaging
Transcript: ENSMUST00000144153
AA Change: N133S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122761
Gene: ENSMUSG00000033909
AA Change: N133S

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,262,161 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,356,942 (GRCm39)	Y1291C	probably damaging	Het
Agtpbp1	C	T	13: 59,676,233 (GRCm39)	C179Y	probably damaging	Het
Capn15	T	C	17: 26,181,982 (GRCm39)	D609G	probably damaging	Het
Cnnm3	T	A	1: 36,552,189 (GRCm39)	F400I	probably damaging	Het
Dst	A	C	1: 34,301,201 (GRCm39)	E1189A	probably damaging	Het
Gcnt1	G	A	19: 17,306,780 (GRCm39)	T315I	probably damaging	Het
H2-M1	T	C	17: 36,982,161 (GRCm39)	I147V	possibly damaging	Het
Hk1	T	C	10: 62,120,590 (GRCm39)	N536D	probably damaging	Het
Klhl5	C	T	5: 65,288,773 (GRCm39)	Q12*	probably null	Het
Lgals12	C	T	19: 7,575,455 (GRCm39)	A294T	probably benign	Het
Mideas	T	C	12: 84,199,636 (GRCm39)	N1028S	probably benign	Het
Mki67	G	T	7: 135,309,931 (GRCm39)	S173R	probably benign	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Obox5	A	G	7: 15,492,888 (GRCm39)	D281G	possibly damaging	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Pacs2	T	A	12: 113,025,330 (GRCm39)	I494N	probably damaging	Het
Pax5	G	T	4: 44,682,722 (GRCm39)	T141K	probably damaging	Het
Phf21b	T	C	15: 84,687,662 (GRCm39)	N230S	probably benign	Het
Rab3gap1	G	T	1: 127,866,342 (GRCm39)	A841S	probably benign	Het
Siglecf	T	C	7: 43,001,802 (GRCm39)	L204P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Snca	G	A	6: 60,804,521 (GRCm39)	T22I	possibly damaging	Het
Syvn1	A	G	19: 6,097,973 (GRCm39)	T4A	probably benign	Het
Usp42	A	T	5: 143,702,883 (GRCm39)	S579R	probably benign	Het
Vezf1	T	C	11: 87,964,129 (GRCm39)	S94P	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
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
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

Posted On

2015-04-16