Incidental Mutation 'R4915:Usp8'
ID 379898
Institutional Source Beutler Lab
Gene Symbol Usp8
Ensembl Gene ENSMUSG00000027363
Gene Name ubiquitin specific peptidase 8
Synonyms Ubpy
MMRRC Submission 042517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4915 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126549248-126601217 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 126562060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 85 (K85*)
Ref Sequence ENSEMBL: ENSMUSP00000106046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000110416] [ENSMUST00000136319]
AlphaFold Q80U87
Predicted Effect probably null
Transcript: ENSMUST00000028841
AA Change: K74*
SMART Domains Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: K74*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000110416
AA Change: K85*
SMART Domains Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: K85*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency 98% (162/166)
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: 135 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,236,420 (GRCm39) A1257V possibly damaging Het
Aldh8a1 T C 10: 21,271,662 (GRCm39) S463P probably damaging Het
Angptl1 T G 1: 156,672,388 (GRCm39) D71E probably benign Het
Ank2 T A 3: 126,736,320 (GRCm39) probably benign Het
Ano1 A G 7: 144,165,112 (GRCm39) S649P possibly damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Asb15 A T 6: 24,566,292 (GRCm39) D415V probably damaging Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bmi1 G A 2: 18,687,143 (GRCm39) probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Brd9 A G 13: 74,086,574 (GRCm39) E25G probably damaging Het
Btbd7 A T 12: 102,804,046 (GRCm39) C331* probably null Het
Ccdc198 A T 14: 49,470,351 (GRCm39) N189K probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cenpj T C 14: 56,791,175 (GRCm39) D328G probably damaging Het
Cherp T C 8: 73,222,241 (GRCm39) D255G probably damaging Het
Clec5a T A 6: 40,562,165 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,506,969 (GRCm39) probably benign Het
Col7a1 G A 9: 108,795,532 (GRCm39) G1529E unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2a22 C A 7: 26,637,195 (GRCm39) E196D probably benign Het
Cyp4f18 T A 8: 72,762,898 (GRCm39) H63L probably damaging Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Ddx6 T A 9: 44,524,170 (GRCm39) D82E probably damaging Het
Defb42 A G 14: 63,285,790 (GRCm39) I57V probably benign Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Dip2c T A 13: 9,671,905 (GRCm39) probably null Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnah12 A T 14: 26,455,725 (GRCm39) D816V probably damaging Het
Dpy19l3 T C 7: 35,452,167 (GRCm39) probably benign Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Evl G T 12: 108,652,365 (GRCm39) R359L probably damaging Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw14 A T 9: 109,103,592 (GRCm39) F40Y possibly damaging Het
Fbxw22 A G 9: 109,213,009 (GRCm39) F313L probably damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fry A T 5: 150,402,328 (GRCm39) T790S probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Gm13030 T A 4: 138,601,239 (GRCm39) probably benign Het
Gm37150 C T 9: 72,292,772 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gm8122 T C 14: 43,091,573 (GRCm39) N65S unknown Het
Gnb4 C T 3: 32,639,236 (GRCm39) probably benign Het
Gprin1 G T 13: 54,885,886 (GRCm39) P796Q probably damaging Het
Grin1 A G 2: 25,188,565 (GRCm39) probably benign Het
Helz2 T C 2: 180,874,231 (GRCm39) R2088G possibly damaging Het
Hsd3b9 C T 3: 98,357,845 (GRCm39) V56M probably damaging Het
Ighv6-6 C A 12: 114,398,595 (GRCm39) R57L probably damaging Het
Inhca A C 9: 103,129,054 (GRCm39) Y235* probably null Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Iqgap3 T A 3: 88,008,834 (GRCm39) I643K possibly damaging Het
Itga11 C A 9: 62,659,530 (GRCm39) Y427* probably null Het
Kbtbd8 T G 6: 95,103,515 (GRCm39) M388R possibly damaging Het
Kif1a T A 1: 93,002,700 (GRCm39) E233V probably benign Het
Krt10 T C 11: 99,278,334 (GRCm39) N275S probably damaging Het
Lrrc3 T C 10: 77,737,253 (GRCm39) D61G probably benign Het
Mapk8ip3 A G 17: 25,128,127 (GRCm39) S377P possibly damaging Het
Mccc1 A G 3: 36,051,703 (GRCm39) L32S probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mmp11 C T 10: 75,761,419 (GRCm39) A31T probably damaging Het
Mthfsl A C 9: 88,597,550 (GRCm39) L67V probably damaging Het
Myo1c T G 11: 75,547,135 (GRCm39) M1R probably null Het
N4bp2 T A 5: 65,960,847 (GRCm39) M506K probably damaging Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Nid1 A G 13: 13,674,171 (GRCm39) E850G possibly damaging Het
Nlrp9c T C 7: 26,083,885 (GRCm39) T565A probably benign Het
Nomo1 T C 7: 45,693,656 (GRCm39) F163L probably benign Het
Nsd1 T C 13: 55,395,681 (GRCm39) V1197A possibly damaging Het
Nsd1 A G 13: 55,424,341 (GRCm39) T1463A probably benign Het
Nsf G A 11: 103,801,185 (GRCm39) probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or4k51 A T 2: 111,584,725 (GRCm39) I44F probably benign Het
Or5an1c A G 19: 12,218,737 (GRCm39) V96A probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or8k33 A G 2: 86,384,399 (GRCm39) L23P probably damaging Het
Or9g10 T C 2: 85,584,465 (GRCm39) probably benign Het
Pcdha6 T A 18: 37,101,510 (GRCm39) D234E probably damaging Het
Pcnx1 C A 12: 82,021,269 (GRCm39) F1425L probably benign Het
Pdzd9 T G 7: 120,269,391 (GRCm39) N10T possibly damaging Het
Pex6 A T 17: 47,024,982 (GRCm39) H345L probably damaging Het
Pfkfb3 G A 2: 11,495,109 (GRCm39) Q100* probably null Het
Pgm2 G A 5: 64,258,291 (GRCm39) G92E probably damaging Het
Pip4k2c T C 10: 127,035,196 (GRCm39) T391A possibly damaging Het
Plcxd2 C T 16: 45,800,941 (GRCm39) W94* probably null Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Prkcg T G 7: 3,378,781 (GRCm39) Y624* probably null Het
Rabep2 T C 7: 126,044,094 (GRCm39) S517P probably damaging Het
Rabgap1l A G 1: 160,269,412 (GRCm39) I717T probably benign Het
Rasef A G 4: 73,649,696 (GRCm39) C484R probably damaging Het
Rdh19 A G 10: 127,686,113 (GRCm39) D75G probably benign Het
Rpl21-ps10 T C 3: 38,161,617 (GRCm39) noncoding transcript Het
Rsl1d1 A T 16: 11,017,593 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rwdd1 T C 10: 33,885,074 (GRCm39) D62G possibly damaging Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slc20a2 C T 8: 23,051,020 (GRCm39) S351L probably damaging Het
Slc24a1 A T 9: 64,855,213 (GRCm39) F565I unknown Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spata4 T C 8: 55,055,471 (GRCm39) probably null Het
Spats2l A T 1: 57,941,347 (GRCm39) K202M probably damaging Het
Speer4b C T 5: 27,705,134 (GRCm39) E80K probably benign Het
Sqle T G 15: 59,193,218 (GRCm39) Y198* probably null Het
Srek1 T C 13: 103,889,194 (GRCm39) probably benign Het
Srek1 T C 13: 103,889,071 (GRCm39) probably benign Het
St14 G A 9: 31,019,960 (GRCm39) R50* probably null Het
Tcaf1 A G 6: 42,652,130 (GRCm39) V784A probably damaging Het
Tfr2 C T 5: 137,581,673 (GRCm39) R587W probably damaging Het
Tmpo A G 10: 90,985,411 (GRCm39) V357A probably damaging Het
Trrap A T 5: 144,742,545 (GRCm39) I1101F probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttpal G A 2: 163,449,397 (GRCm39) R84H probably damaging Het
Tyk2 T C 9: 21,022,433 (GRCm39) T799A probably benign Het
Ugt1a10 A T 1: 87,983,646 (GRCm39) D148V probably damaging Het
Usp29 C T 7: 6,964,504 (GRCm39) P116S probably benign Het
Usp9y C T Y: 1,316,735 (GRCm39) R1938H probably damaging Het
Vmn1r90 T G 7: 14,295,950 (GRCm39) R49S possibly damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Yars1 A T 4: 129,104,384 (GRCm39) probably benign Het
Zfp114 T C 7: 23,877,290 (GRCm39) L44P probably damaging Het
Zfp36l2 A G 17: 84,493,690 (GRCm39) probably benign Het
Zfp512 T C 5: 31,634,209 (GRCm39) S407P probably damaging Het
Zfp574 C T 7: 24,780,151 (GRCm39) P391L probably damaging Het
Zfp607a T G 7: 27,577,985 (GRCm39) C352G probably benign Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign Het
Zfr A C 15: 12,162,198 (GRCm39) probably null Het
Other mutations in Usp8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCTGCCGAGTTTATCTGTTACATG -3'
(R):5'- GCCCCACAGGAGTTAAAATTGTC -3'

Sequencing Primer
(F):5'- ACATGTATTTTTCCCCAGTACCAAG -3'
(R):5'- TGGTGACAGACCTCCTGCTTAG -3'
Posted On 2016-04-15