Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Usp36'

238125

Institutional Source

Beutler Lab

Gene Symbol

Usp36

Ensembl Gene

ENSMUSG00000033909

Gene Name

ubiquitin specific peptidase 36

Synonyms

2700002L06Rik

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118150477-118181070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118175849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 104 (L104P)

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: L104P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: L104P

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: L104P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: L104P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151433

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGTGTTAACAAGTTCAGCTG -3'
(R):5'- ATACAGAGGTTGGACGGGTC -3'

Sequencing Primer
(F):5'- GTGTTAACAAGTTCAGCTGACTCAC -3'
(R):5'- CACACAGTGCGGTGCAAG -3'

Posted On

2014-10-02