Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Usp8'

243602

Institutional Source

Beutler Lab

Gene Symbol

Usp8

Ensembl Gene

ENSMUSG00000027363

Gene Name

ubiquitin specific peptidase 8

Synonyms

Ubpy

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2259 (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 126600488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1080 (T1080A)

Ref Sequence

ENSEMBL: ENSMUSP00000106046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000028842] [ENSMUST00000110416] [ENSMUST00000130356] [ENSMUST00000136319]

AlphaFold

Q80U87

Predicted Effect

probably benign
Transcript: ENSMUST00000028841
AA Change: T1069A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: T1069A

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: ENSMUST00000028842

SMART Domains

Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	44	360	9.2e-67	PFAM
Pfam:UCH_1	45	342	2.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110416
AA Change: T1080A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: T1080A

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: ENSMUST00000130356

SMART Domains

Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	8	183	1.5e-20	PFAM
Pfam:UCH_1	22	194	3.1e-9	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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145194

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
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'- TCCTTACCCCATAGGAGAGTG -3'
(R):5'- ACTGGCCTGAATTATATGGTGC -3'

Sequencing Primer
(F):5'- TTACCCCATAGGAGAGTGAGAATAAC -3'
(R):5'- CTAGTAGCACAGCCCCAGTGTTC -3'

Posted On

2014-10-16