Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Usp8'

500257

Institutional Source

Beutler Lab

Gene Symbol

Usp8

Ensembl Gene

ENSMUSG00000027363

Gene Name

ubiquitin specific peptidase 8

Synonyms

Ubpy

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126549248-126601217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126596847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 875 (K875E)

Ref Sequence

ENSEMBL: ENSMUSP00000028841 (fasta)

Gene Model

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

AlphaFold

Q80U87

PDB Structure

Crystal Structure of STAM2 SH3 domain in complex with a UBPY-derived peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028841
AA Change: K875E

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

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: K875E

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 damaging
Transcript: ENSMUST00000110416
AA Change: K886E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: K886E

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

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.8%
20x: 69.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,684,126 (GRCm39)	R719S	probably benign	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
C7	T	A	15: 5,041,631 (GRCm39)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup160	A	T	2: 90,530,887 (GRCm39)	H515L	probably benign	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Ogfr	A	T	2: 180,236,543 (GRCm39)	E376V	probably damaging	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,611,142 (GRCm39)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	probably damaging	Het

Other mutations in Usp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Usp8	APN	2	126,600,480 (GRCm39)	missense	probably damaging	1.00
IGL00771:Usp8	APN	2	126,567,353 (GRCm39)	splice site	probably null
IGL01073:Usp8	APN	2	126,560,034 (GRCm39)	missense	probably damaging	0.96
IGL01722:Usp8	APN	2	126,600,072 (GRCm39)	missense	probably damaging	1.00
IGL02100:Usp8	APN	2	126,579,774 (GRCm39)	intron	probably benign
IGL02210:Usp8	APN	2	126,559,976 (GRCm39)	intron	probably benign
IGL02516:Usp8	APN	2	126,584,094 (GRCm39)	missense	probably benign	0.00
IGL02743:Usp8	APN	2	126,575,943 (GRCm39)	missense	probably damaging	1.00
IGL02953:Usp8	APN	2	126,579,857 (GRCm39)	missense	probably benign
Satsuke	UTSW	2	126,593,031 (GRCm39)	missense	probably damaging	1.00
R0045:Usp8	UTSW	2	126,584,143 (GRCm39)	missense	probably benign	0.03
R0048:Usp8	UTSW	2	126,579,809 (GRCm39)	missense	probably damaging	0.96
R0048:Usp8	UTSW	2	126,579,809 (GRCm39)	missense	probably damaging	0.96
R0143:Usp8	UTSW	2	126,597,009 (GRCm39)	intron	probably benign
R0427:Usp8	UTSW	2	126,559,952 (GRCm39)	intron	probably benign
R0440:Usp8	UTSW	2	126,567,310 (GRCm39)	missense	probably benign	0.00
R0636:Usp8	UTSW	2	126,562,030 (GRCm39)	missense	possibly damaging	0.87
R0828:Usp8	UTSW	2	126,584,034 (GRCm39)	intron	probably benign
R1468:Usp8	UTSW	2	126,596,847 (GRCm39)	missense	probably damaging	1.00
R1782:Usp8	UTSW	2	126,561,971 (GRCm39)	missense	probably damaging	1.00
R1860:Usp8	UTSW	2	126,597,960 (GRCm39)	missense	probably damaging	1.00
R2127:Usp8	UTSW	2	126,579,495 (GRCm39)	splice site	probably null
R2259:Usp8	UTSW	2	126,600,488 (GRCm39)	missense	probably benign	0.32
R2892:Usp8	UTSW	2	126,600,075 (GRCm39)	missense	probably damaging	1.00
R2893:Usp8	UTSW	2	126,600,075 (GRCm39)	missense	probably damaging	1.00
R3104:Usp8	UTSW	2	126,600,432 (GRCm39)	missense	probably damaging	1.00
R4074:Usp8	UTSW	2	126,594,290 (GRCm39)	missense	probably damaging	1.00
R4678:Usp8	UTSW	2	126,567,349 (GRCm39)	missense	probably null	1.00
R4715:Usp8	UTSW	2	126,571,142 (GRCm39)	missense	possibly damaging	0.80
R4832:Usp8	UTSW	2	126,596,958 (GRCm39)	missense	probably damaging	1.00
R4914:Usp8	UTSW	2	126,562,060 (GRCm39)	nonsense	probably null
R4915:Usp8	UTSW	2	126,562,060 (GRCm39)	nonsense	probably null
R4918:Usp8	UTSW	2	126,562,060 (GRCm39)	nonsense	probably null
R5262:Usp8	UTSW	2	126,593,031 (GRCm39)	missense	probably damaging	1.00
R5625:Usp8	UTSW	2	126,584,197 (GRCm39)	missense	probably damaging	1.00
R5667:Usp8	UTSW	2	126,584,345 (GRCm39)	missense	probably benign	0.00
R5671:Usp8	UTSW	2	126,584,345 (GRCm39)	missense	probably benign	0.00
R5984:Usp8	UTSW	2	126,584,401 (GRCm39)	missense	probably benign	0.10
R6529:Usp8	UTSW	2	126,567,298 (GRCm39)	missense	probably benign	0.01
R6551:Usp8	UTSW	2	126,575,102 (GRCm39)	intron	probably benign
R6885:Usp8	UTSW	2	126,594,230 (GRCm39)	missense	probably damaging	1.00
R7768:Usp8	UTSW	2	126,593,043 (GRCm39)	missense	probably damaging	1.00
R8097:Usp8	UTSW	2	126,596,800 (GRCm39)	missense	probably benign	0.44
R8130:Usp8	UTSW	2	126,559,918 (GRCm39)	intron	probably benign
R8379:Usp8	UTSW	2	126,584,491 (GRCm39)	missense	probably benign
R8412:Usp8	UTSW	2	126,584,578 (GRCm39)	missense	probably benign
R8880:Usp8	UTSW	2	126,590,229 (GRCm39)	missense	probably damaging	1.00
R9113:Usp8	UTSW	2	126,579,343 (GRCm39)	missense	probably benign
R9198:Usp8	UTSW	2	126,600,524 (GRCm39)	makesense	probably null
R9280:Usp8	UTSW	2	126,561,944 (GRCm39)	missense	unknown
R9441:Usp8	UTSW	2	126,562,073 (GRCm39)	missense	possibly damaging	0.56
R9561:Usp8	UTSW	2	126,578,414 (GRCm39)	missense	probably damaging	1.00
Z1177:Usp8	UTSW	2	126,600,351 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGGGAAGAAGTTCAAGCCATGTC -3'
(R):5'- ACCGATTTTCCTGTCAGGATGATGC -3'

Sequencing Primer
(F):5'- GAAGTTCAAGCCATGTCCTTTCAG -3'
(R):5'- TGTCAGGATGATGCACACAAATAAC -3'

Posted On

2017-12-01