Incidental Mutation 'R8097:Usp8'
ID 630222
Institutional Source Beutler Lab
Gene Symbol Usp8
Ensembl Gene ENSMUSG00000027363
Gene Name ubiquitin specific peptidase 8
Synonyms Ubpy
MMRRC Submission 067529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8097 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 126549248-126601217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126596800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 870 (N870S)
Ref Sequence ENSEMBL: ENSMUSP00000106046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000110416] [ENSMUST00000136319]
AlphaFold Q80U87
Predicted Effect possibly damaging
Transcript: ENSMUST00000028841
AA Change: N859S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363
AA Change: N859S

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 benign
Transcript: ENSMUST00000110416
AA Change: N870S

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363
AA Change: N870S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,805,394 (GRCm39) M749I probably benign Het
Adcy8 A T 15: 64,743,711 (GRCm39) probably null Het
Adgrb2 G A 4: 129,901,690 (GRCm39) C438Y probably damaging Het
Amn1 G A 6: 149,070,853 (GRCm39) probably benign Het
Atxn2 C T 5: 121,887,286 (GRCm39) R319W probably damaging Het
Ccdc162 T C 10: 41,510,115 (GRCm39) E830G probably benign Het
Ccdc71 T C 9: 108,340,751 (GRCm39) V188A probably benign Het
Ceacam11 A T 7: 17,709,455 (GRCm39) R218* probably null Het
Col18a1 A C 10: 76,948,342 (GRCm39) L390R unknown Het
Cps1 A G 1: 67,267,429 (GRCm39) N1399S probably benign Het
Ctnnal1 T C 4: 56,847,845 (GRCm39) E98G probably damaging Het
Cyp1a2 T A 9: 57,586,836 (GRCm39) probably null Het
Cyp2d11 C A 15: 82,274,581 (GRCm39) probably null Het
Cyp2j7 G A 4: 96,103,647 (GRCm39) T296I possibly damaging Het
Dcc C T 18: 71,812,573 (GRCm39) G407D probably damaging Het
E330034G19Rik T C 14: 24,356,920 (GRCm39) L217S unknown Het
Eea1 A G 10: 95,862,516 (GRCm39) K813E probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Etf1 T C 18: 35,064,697 (GRCm39) D4G probably benign Het
F830045P16Rik T C 2: 129,305,505 (GRCm39) T290A possibly damaging Het
Filip1 T C 9: 79,725,541 (GRCm39) D1026G probably benign Het
Flad1 A T 3: 89,316,442 (GRCm39) L40H probably damaging Het
Fpr3 C A 17: 18,191,054 (GRCm39) N108K probably damaging Het
Galntl6 A G 8: 58,415,407 (GRCm39) probably null Het
Hmgcll1 T C 9: 75,922,421 (GRCm39) L22P probably benign Het
Iars2 C T 1: 185,061,586 (GRCm39) probably benign Het
Ifna15 A T 4: 88,475,938 (GRCm39) L182Q probably benign Het
Kcna6 A T 6: 126,715,575 (GRCm39) V438E probably damaging Het
Kcnma1 T A 14: 23,381,032 (GRCm39) D1012V probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 G A 10: 27,066,660 (GRCm39) Q1074* probably null Het
Lhx9 T C 1: 138,766,089 (GRCm39) Y242C probably damaging Het
Lrrc37a T A 11: 103,394,925 (GRCm39) I167F probably benign Het
Lrrc49 T A 9: 60,522,331 (GRCm39) T351S probably benign Het
Lrrc56 A G 7: 140,775,819 (GRCm39) probably null Het
Mlh1 C A 9: 111,085,160 (GRCm39) probably null Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Nav2 A G 7: 49,237,525 (GRCm39) D1999G probably damaging Het
Ncapd2 A T 6: 125,145,945 (GRCm39) I1272K possibly damaging Het
Neurl1a A G 19: 47,245,958 (GRCm39) D530G probably damaging Het
Nid2 T C 14: 19,848,657 (GRCm39) V1019A possibly damaging Het
Nlrp2 A T 7: 5,330,650 (GRCm39) L582Q probably damaging Het
Or1o4 A T 17: 37,590,818 (GRCm39) Y164* probably null Het
Or4c121 A T 2: 89,023,976 (GRCm39) I134N probably damaging Het
Or51a39 A G 7: 102,363,197 (GRCm39) V141A possibly damaging Het
Or8k1 A T 2: 86,048,010 (GRCm39) F15I probably damaging Het
Pde6c G T 19: 38,150,414 (GRCm39) E520* probably null Het
Pdzk1 C T 3: 96,757,556 (GRCm39) T4I probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rap1gap G T 4: 137,455,597 (GRCm39) V667F probably benign Het
Recql A T 6: 142,320,637 (GRCm39) I137N probably damaging Het
Ryr2 T C 13: 11,960,881 (GRCm39) E19G probably damaging Het
Ryr3 T C 2: 112,500,615 (GRCm39) probably null Het
Six1 A G 12: 73,090,524 (GRCm39) S214P possibly damaging Het
Slc24a1 T C 9: 64,831,734 (GRCm39) D1121G probably damaging Het
Slc30a6 T A 17: 74,719,693 (GRCm39) C218S possibly damaging Het
Spata31e1 T A 13: 49,943,676 (GRCm39) M1L probably benign Het
Stab2 T C 10: 86,704,959 (GRCm39) D1803G possibly damaging Het
Sult2a3 A T 7: 13,816,635 (GRCm39) V181E possibly damaging Het
Ubc C T 5: 125,466,982 (GRCm39) probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vps13b T C 15: 35,709,492 (GRCm39) I1813T probably benign Het
Wdr11 C T 7: 129,209,611 (GRCm39) P473L probably damaging Het
Zcchc4 T A 5: 52,953,333 (GRCm39) I114N probably benign Het
Zfp516 C A 18: 83,005,295 (GRCm39) S733* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y 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
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
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'- AGCCATGTCCTTTCAGTAAAGTG -3'
(R):5'- TACTTGTGGATGCTAGCGGC -3'

Sequencing Primer
(F):5'- CATGTCCTTTCAGTAAAGTGGGTTTG -3'
(R):5'- CAAAGACAAGTACATGAAGGCCTCG -3'
Posted On 2020-06-30