Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Usp8'

676816

Institutional Source

Beutler Lab

Gene Symbol

Usp8

Ensembl Gene

ENSMUSG00000027363

Gene Name

ubiquitin specific peptidase 8

Synonyms

Ubpy

MMRRC Submission

068748-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126549248-126601217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126590229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 672 (K672E)

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: K661E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: K661E

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: K672E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: K672E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,837 (GRCm39)	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,839,867 (GRCm39)	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,454,764 (GRCm39)	M527K	probably benign	Het
Atp10b	C	T	11: 43,106,811 (GRCm39)	T615I	probably benign	Het
Atxn2	A	G	5: 121,948,973 (GRCm39)	T1117A	probably benign	Het
AU021092	A	T	16: 5,032,585 (GRCm39)		probably benign	Het
Bcam	C	T	7: 19,492,671 (GRCm39)	V505M	probably damaging	Het
Bco2	A	T	9: 50,461,962 (GRCm39)	L14Q	probably damaging	Het
Caps2	T	G	10: 112,030,824 (GRCm39)		probably benign	Het
Cblb	T	C	16: 51,986,368 (GRCm39)	V537A	probably benign	Het
Ccdc141	A	T	2: 76,845,556 (GRCm39)	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,389,129 (GRCm39)	D442E	probably benign	Het
Col24a1	A	G	3: 145,019,798 (GRCm39)	I60V	probably null	Het
Crb1	A	T	1: 139,164,886 (GRCm39)	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,846,430 (GRCm39)	P621S	probably benign	Het
Ddx46	A	T	13: 55,814,033 (GRCm39)	N663I	probably benign	Het
Dgki	C	T	6: 37,011,652 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,621,239 (GRCm39)	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,973,670 (GRCm39)	E262G	probably damaging	Het
Dvl2	T	A	11: 69,898,761 (GRCm39)	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,267,249 (GRCm39)	D712G	probably damaging	Het
Entpd7	A	G	19: 43,692,846 (GRCm39)		probably benign	Het
Epb41	A	T	4: 131,695,104 (GRCm39)	W28R		Het
Fabp9	C	T	3: 10,262,231 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,232,602 (GRCm39)	M657L	probably benign	Het
Gfy	A	C	7: 44,827,784 (GRCm39)	L104R	possibly damaging	Het
Gm4884	A	T	7: 40,693,911 (GRCm39)	I627F	probably damaging	Het
Gm9195	A	T	14: 72,691,320 (GRCm39)	S1643T	unknown	Het
Gpsm2	C	T	3: 108,610,335 (GRCm39)	A42T	possibly damaging	Het
Gvin2	T	C	7: 105,551,120 (GRCm39)	K644R	probably benign	Het
Gys2	T	C	6: 142,402,113 (GRCm39)	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,185,868 (GRCm39)	N430S	probably damaging	Het
Idh3b	A	T	2: 130,126,004 (GRCm39)		probably benign	Het
Igdcc3	C	T	9: 65,088,550 (GRCm39)	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,217,535 (GRCm39)	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,713,494 (GRCm39)	A45E	probably damaging	Het
Il10ra	G	A	9: 45,175,631 (GRCm39)	T230M	probably damaging	Het
Kalrn	A	G	16: 34,038,305 (GRCm39)	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,417,718 (GRCm39)	A837D	probably damaging	Het
Kif7	T	A	7: 79,348,650 (GRCm39)	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,298,817 (GRCm39)	D134G	possibly damaging	Het
Klk14	T	C	7: 43,343,459 (GRCm39)	V97A	probably damaging	Het
Lamb3	G	A	1: 193,003,363 (GRCm39)	V101M	possibly damaging	Het
Lrrc7	C	T	3: 157,867,381 (GRCm39)	E787K	probably damaging	Het
Mep1a	A	G	17: 43,808,808 (GRCm39)	I94T	possibly damaging	Het
Mtrex	T	A	13: 113,051,034 (GRCm39)	K180N	probably benign	Het
Ncr1	C	T	7: 4,341,336 (GRCm39)	S109L	probably benign	Het
Nell2	A	T	15: 95,129,329 (GRCm39)	M678K	probably damaging	Het
Or12j5	C	A	7: 140,084,172 (GRCm39)	A67S	probably benign	Het
Or14c42-ps1	G	A	7: 86,211,549 (GRCm39)	C203Y	unknown	Het
Or2m13	A	T	16: 19,226,396 (GRCm39)	Y123*	probably null	Het
Or8g19	T	A	9: 39,055,899 (GRCm39)	F168I	probably damaging	Het
Pnpla1	A	C	17: 29,098,438 (GRCm39)	Y248S	probably damaging	Het
Pramel27	T	C	4: 143,573,140 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,264,742 (GRCm39)	F726L	probably damaging	Het
Prdm16	T	C	4: 154,613,370 (GRCm39)	N19S	probably damaging	Het
Prss44	A	G	9: 110,643,263 (GRCm39)	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,115,425 (GRCm39)	R721Q	probably benign	Het
Rassf1	A	T	9: 107,434,740 (GRCm39)	N149I	probably damaging	Het
Rbp3	A	C	14: 33,678,796 (GRCm39)	T915P	probably benign	Het
Reg3g	A	T	6: 78,444,788 (GRCm39)	D63E	probably benign	Het
Relch	T	C	1: 105,592,220 (GRCm39)	Y130H	probably damaging	Het
Rgs3	C	A	4: 62,543,373 (GRCm39)	T236K	probably damaging	Het
Rin2	T	C	2: 145,690,772 (GRCm39)	F147L	probably damaging	Het
Slc17a1	T	C	13: 24,062,732 (GRCm39)	I266T	probably benign	Het
Slc34a3	A	T	2: 25,119,267 (GRCm39)	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856 (GRCm39)	E615D	probably benign	Het
Snx16	A	C	3: 10,484,193 (GRCm39)	D343E	probably benign	Het
St18	T	A	1: 6,865,619 (GRCm39)	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204 (GRCm39)	V3260I	possibly damaging	Het
Synm	C	T	7: 67,386,456 (GRCm39)	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,318,564 (GRCm39)	E67V	possibly damaging	Het
Tarbp1	G	T	8: 127,198,044 (GRCm39)	N302K	probably damaging	Het
Tenm2	A	G	11: 35,942,788 (GRCm39)	S1294P	probably damaging	Het
Ttk	T	C	9: 83,751,304 (GRCm39)	S794P	probably damaging	Het
Ulk1	G	A	5: 110,934,288 (GRCm39)	A999V	probably damaging	Het
Upf2	A	G	2: 6,030,983 (GRCm39)	I808V	unknown	Het
Ush2a	A	G	1: 188,460,733 (GRCm39)	T2665A	probably benign	Het
Vmn2r105	T	A	17: 20,429,229 (GRCm39)	I616F	probably damaging	Het
Vps33a	T	C	5: 123,707,506 (GRCm39)	M154V	probably damaging	Het
Wdfy4	A	C	14: 32,795,492 (GRCm39)	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,288,212 (GRCm39)	F875L	probably benign	Het
Zfp979	T	C	4: 147,697,836 (GRCm39)	N291S	probably benign	Het
Zp2	T	A	7: 119,742,835 (GRCm39)	Y99F	possibly 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
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
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'- GGGATGACACTTGAATCACTTC -3'
(R):5'- TTTACGGGGTGACACTCAGAC -3'

Sequencing Primer
(F):5'- GGATGACACTTGAATCACTTCTGTGC -3'
(R):5'- TGACACTCAGACAGGTTGAAGC -3'

Posted On

2021-07-15