Mutagenetix > Incidental Mutation

Incidental Mutation 'R1860:Usp8'

203772

Institutional Source

Beutler Lab

Gene Symbol

Usp8

Ensembl Gene

ENSMUSG00000027363

Gene Name

ubiquitin specific peptidase 8

Synonyms

Ubpy

MMRRC Submission

039883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126549248-126601217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126597960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 961 (C961Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106046 (fasta)

Gene Model

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

AlphaFold

Q80U87

Predicted Effect

probably damaging
Transcript: ENSMUST00000028841
AA Change: C950Y

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

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: C950Y

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: C961Y

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

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: C961Y

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

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,098 (GRCm39)	C587R	probably damaging	Het
Abca16	T	A	7: 120,133,986 (GRCm39)	S1320T	probably benign	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Acadsb	T	A	7: 131,045,958 (GRCm39)		probably null	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,748,363 (GRCm39)	V521A	probably benign	Het
Adh5	G	A	3: 138,159,539 (GRCm39)	V288I	probably benign	Het
Astn1	A	C	1: 158,429,515 (GRCm39)	N753T	probably damaging	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Best3	A	G	10: 116,829,178 (GRCm39)	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,348,847 (GRCm39)	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,152,700 (GRCm39)	Q735R	probably benign	Het
Cd19	T	A	7: 126,008,813 (GRCm39)	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,288 (GRCm39)	L749H	probably benign	Het
Clec2h	G	T	6: 128,652,790 (GRCm39)	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,346,733 (GRCm39)	I202N	probably damaging	Het
Crebbp	G	T	16: 3,905,600 (GRCm39)	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,173,565 (GRCm39)	R204Q	probably damaging	Het
Derl2	A	G	11: 70,909,169 (GRCm39)	F43S	probably damaging	Het
Dnah14	T	A	1: 181,591,525 (GRCm39)	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,353,412 (GRCm39)	V2855A	probably benign	Het
Dpysl4	G	T	7: 138,670,215 (GRCm39)	C27F	probably benign	Het
Fam228b	G	A	12: 4,798,314 (GRCm39)	A163V	probably damaging	Het
Fscn1	T	C	5: 142,955,818 (GRCm39)		probably null	Het
Fzd5	C	A	1: 64,774,153 (GRCm39)	R536L	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gpr176	T	A	2: 118,203,659 (GRCm39)	N4Y	probably damaging	Het
Grin3a	T	C	4: 49,665,309 (GRCm39)	I1109V	possibly damaging	Het
Hcar1	T	A	5: 124,017,092 (GRCm39)	I200F	probably damaging	Het
Heatr4	G	A	12: 84,026,502 (GRCm39)	Q252*	probably null	Het
Hps1	G	A	19: 42,750,888 (GRCm39)	H371Y	probably damaging	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Kdm1b	G	A	13: 47,202,666 (GRCm39)	A34T	probably benign	Het
Lef1	A	G	3: 130,905,290 (GRCm39)	N57S	probably damaging	Het
Ltn1	A	T	16: 87,213,231 (GRCm39)	D443E	probably benign	Het
Macroh2a1	A	G	13: 56,231,017 (GRCm39)	L287P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mb	A	G	15: 76,901,784 (GRCm39)	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,333,390 (GRCm39)	P1357Q	probably benign	Het
Nfib	C	T	4: 82,241,917 (GRCm39)	V425M	probably damaging	Het
Or12j2	G	A	7: 139,916,132 (GRCm39)	R119H	possibly damaging	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or4c127	G	A	2: 89,833,490 (GRCm39)	V247I	probably benign	Het
Or4n4	A	T	14: 50,518,848 (GRCm39)	Y287*	probably null	Het
Or52u1	T	C	7: 104,237,112 (GRCm39)	S34P	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or5p53	A	G	7: 107,533,597 (GRCm39)	Y290C	probably damaging	Het
Or6c208	T	C	10: 129,223,955 (GRCm39)	F151S	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Prkaca	T	C	8: 84,707,852 (GRCm39)	S46P	probably benign	Het
Prkcb	T	G	7: 122,167,424 (GRCm39)	V378G	probably damaging	Het
Ptprf	A	T	4: 118,081,129 (GRCm39)	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,065,064 (GRCm39)	V687A	probably benign	Het
Rsad2	C	T	12: 26,500,616 (GRCm39)	V224I	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scn1a	C	T	2: 66,148,326 (GRCm39)	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,515,845 (GRCm39)	M582V	probably benign	Het
Tbc1d32	A	T	10: 55,999,633 (GRCm39)	Y846*	probably null	Het
Tbk1	A	T	10: 121,383,076 (GRCm39)	M719K	probably benign	Het
Timeless	A	G	10: 128,081,983 (GRCm39)	K536R	probably benign	Het
Tle6	G	T	10: 81,430,163 (GRCm39)	Q330K	probably damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Toe1	T	C	4: 116,662,426 (GRCm39)	Y273C	probably damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ubxn11	G	A	4: 133,852,149 (GRCm39)	S32N	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,269,759 (GRCm39)	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,264,782 (GRCm39)	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,315,755 (GRCm39)	V104I	probably benign	Het
Vmn2r97	C	T	17: 19,167,648 (GRCm39)	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279 (GRCm39)		probably null	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het
Zfp14	C	T	7: 29,738,116 (GRCm39)	V290M	probably damaging	Het
Zfp317	G	A	9: 19,553,280 (GRCm39)	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,814,369 (GRCm39)	N185K	probably benign	Het
Zscan21	T	A	5: 138,124,892 (GRCm39)	D269E	probably benign	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
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
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'- GTCCCTTCTTACAGCAGACAC -3'
(R):5'- TGCCTTACTTATTTGCTGGAGAAC -3'

Sequencing Primer
(F):5'- GCAGACACTTACCCACCTTATTGAG -3'
(R):5'- GCTGGAGAACATTCCTTAGGTTTCC -3'

Posted On

2014-06-23