Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02210:Usp8'

284687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp8

Ensembl Gene

ENSMUSG00000027363

Gene Name

ubiquitin specific peptidase 8

Synonyms

Ubpy

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

126707328-126759297 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 126718056 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000110416] [ENSMUST00000136319]

Predicted Effect

probably benign
Transcript: ENSMUST00000028841

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	6	116	2.3e-37	PFAM
low complexity region	119	140	N/A	INTRINSIC
RHOD	185	310	3.69e-7	SMART
low complexity region	378	393	N/A	INTRINSIC
coiled coil region	467	501	N/A	INTRINSIC
low complexity region	642	657	N/A	INTRINSIC
Pfam:UCH	738	1068	4e-88	PFAM
Pfam:UCH_1	739	1053	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110416

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	6	127	2.5e-36	PFAM
low complexity region	130	151	N/A	INTRINSIC
RHOD	196	321	3.69e-7	SMART
low complexity region	389	404	N/A	INTRINSIC
coiled coil region	478	512	N/A	INTRINSIC
low complexity region	653	668	N/A	INTRINSIC
Pfam:UCH	749	1079	1.3e-82	PFAM
Pfam:UCH_1	750	1064	3.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136319

SMART Domains

Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	1	268	1.9e-39	PFAM
Pfam:UCH_1	1	269	1.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138859

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 protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,687,371	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,898,526	H422L	probably damaging	Het
Adcy6	T	C	15: 98,594,971	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,597,673	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,118,314	D86G	probably damaging	Het
Anpep	T	A	7: 79,826,904	Y29F	probably benign	Het
Appl1	T	C	14: 26,925,952		probably benign	Het
Arrdc5	T	C	17: 56,300,026	D73G	probably damaging	Het
Atp12a	T	A	14: 56,371,744	Y142*	probably null	Het
Clec4a3	T	A	6: 122,954,108	I52N	probably damaging	Het
Cmya5	G	A	13: 93,092,734	P1949S	probably benign	Het
Crybb2	T	A	5: 113,058,387	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,404,049	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,735,977	F337S	probably damaging	Het
F5	T	C	1: 164,190,141	S596P	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Gm5070	T	G	3: 95,410,625		noncoding transcript	Het
Hps5	T	C	7: 46,786,570	Y184C	probably benign	Het
Letmd1	T	C	15: 100,469,247		probably null	Het
Lipo5	A	T	19: 33,467,877	N97K	unknown	Het
Mis18bp1	A	T	12: 65,136,831	Y922*	probably null	Het
Mob3c	C	A	4: 115,833,755	H181N	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Nav3	T	C	10: 109,766,990	T1233A	probably benign	Het
Olfr1120	T	A	2: 87,358,003	D186E	probably damaging	Het
Olfr361	G	T	2: 37,085,619	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,389,219	E1817G	possibly damaging	Het
Pdzd3	T	G	9: 44,248,317	T461P	probably benign	Het
Phc3	A	G	3: 30,936,709	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,223,649	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,483,474		probably benign	Het
Slc29a4	T	C	5: 142,718,779	Y359H	probably damaging	Het
Sspo	T	C	6: 48,500,492	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,396,309	L280Q	probably damaging	Het
Stap1	G	A	5: 86,078,061		probably null	Het
Szt2	A	G	4: 118,389,823	V865A	possibly damaging	Het
Tmem246	A	G	4: 49,586,686	Y161H	probably benign	Het
Tnr	T	A	1: 159,852,101	V215D	probably benign	Het
Trpm1	T	C	7: 64,210,865	L288P	probably damaging	Het
Ttll5	T	A	12: 85,912,545		probably benign	Het
Uxs1	T	C	1: 43,750,286	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,090,869	E497G	probably damaging	Het
Xdh	T	C	17: 73,943,895	K21E	probably benign	Het

Other mutations in Usp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Usp8	APN	2	126758560	missense	probably damaging	1.00
IGL00771:Usp8	APN	2	126725433	splice site	probably null
IGL01073:Usp8	APN	2	126718114	missense	probably damaging	0.96
IGL01722:Usp8	APN	2	126758152	missense	probably damaging	1.00
IGL02100:Usp8	APN	2	126737854	intron	probably benign
IGL02516:Usp8	APN	2	126742174	missense	probably benign	0.00
IGL02743:Usp8	APN	2	126734023	missense	probably damaging	1.00
IGL02953:Usp8	APN	2	126737937	missense	probably benign
satsuke	UTSW	2	126751111	missense	probably damaging	1.00
R0045:Usp8	UTSW	2	126742223	missense	probably benign	0.03
R0048:Usp8	UTSW	2	126737889	missense	probably damaging	0.96
R0048:Usp8	UTSW	2	126737889	missense	probably damaging	0.96
R0143:Usp8	UTSW	2	126755089	intron	probably benign
R0427:Usp8	UTSW	2	126718032	intron	probably benign
R0440:Usp8	UTSW	2	126725390	missense	probably benign	0.00
R0636:Usp8	UTSW	2	126720110	missense	possibly damaging	0.87
R0828:Usp8	UTSW	2	126742114	intron	probably benign
R1468:Usp8	UTSW	2	126754927	missense	probably damaging	1.00
R1468:Usp8	UTSW	2	126754927	missense	probably damaging	1.00
R1782:Usp8	UTSW	2	126720051	missense	probably damaging	1.00
R1860:Usp8	UTSW	2	126756040	missense	probably damaging	1.00
R2127:Usp8	UTSW	2	126737575	intron	probably null
R2259:Usp8	UTSW	2	126758568	missense	probably benign	0.32
R2892:Usp8	UTSW	2	126758155	missense	probably damaging	1.00
R2893:Usp8	UTSW	2	126758155	missense	probably damaging	1.00
R3104:Usp8	UTSW	2	126758512	missense	probably damaging	1.00
R4074:Usp8	UTSW	2	126752370	missense	probably damaging	1.00
R4678:Usp8	UTSW	2	126725429	missense	probably null	1.00
R4715:Usp8	UTSW	2	126729222	missense	possibly damaging	0.80
R4832:Usp8	UTSW	2	126755038	missense	probably damaging	1.00
R4914:Usp8	UTSW	2	126720140	nonsense	probably null
R4915:Usp8	UTSW	2	126720140	nonsense	probably null
R4918:Usp8	UTSW	2	126720140	nonsense	probably null
R5262:Usp8	UTSW	2	126751111	missense	probably damaging	1.00
R5625:Usp8	UTSW	2	126742277	missense	probably damaging	1.00
R5667:Usp8	UTSW	2	126742425	missense	probably benign	0.00
R5671:Usp8	UTSW	2	126742425	missense	probably benign	0.00
R5984:Usp8	UTSW	2	126742481	missense	probably benign	0.10
R6529:Usp8	UTSW	2	126725378	missense	probably benign	0.01
R6551:Usp8	UTSW	2	126733182	intron	probably benign
R6885:Usp8	UTSW	2	126752310	missense	probably damaging	1.00
R7768:Usp8	UTSW	2	126751123	missense	probably damaging	1.00
R8097:Usp8	UTSW	2	126754880	missense	probably benign	0.44
R8130:Usp8	UTSW	2	126717998	intron	probably benign
Z1177:Usp8	UTSW	2	126758431	missense	probably damaging	1.00

Posted On

2015-04-16