Incidental Mutation 'R4852:Usp7'
ID 373669
Institutional Source Beutler Lab
Gene Symbol Usp7
Ensembl Gene ENSMUSG00000022710
Gene Name ubiquitin specific peptidase 7
Synonyms 2210010O09Rik
MMRRC Submission 042464-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4852 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 8506586-8574931 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 8574708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 58 (C58*)
Ref Sequence ENSEMBL: ENSMUSP00000124382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160405]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000160405
AA Change: C58*
SMART Domains Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: C58*

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
MATH 111 217 4.27e-22 SMART
Pfam:UCH 254 559 5.7e-53 PFAM
Pfam:UCH_1 255 528 3.7e-22 PFAM
Pfam:USP7_ICP0_bdg 661 906 7.1e-79 PFAM
Pfam:USP7_C2 916 1127 4.9e-63 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4921524L21Rik C G 18: 6,623,487 (GRCm39) L66V possibly damaging Het
4921524L21Rik T A 18: 6,623,488 (GRCm39) L66Q probably damaging Het
Abca6 A G 11: 110,135,029 (GRCm39) V252A probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acap1 C T 11: 69,775,202 (GRCm39) V354M probably benign Het
Accs T C 2: 93,674,605 (GRCm39) D99G probably damaging Het
Adam9 T C 8: 25,493,317 (GRCm39) Y97C probably damaging Het
Akap6 T C 12: 53,151,458 (GRCm39) V1174A probably damaging Het
Aknad1 C A 3: 108,659,056 (GRCm39) D23E probably damaging Het
Ano2 T C 6: 125,959,886 (GRCm39) C666R possibly damaging Het
Atp4a G A 7: 30,423,693 (GRCm39) A933T probably benign Het
Atxn2 T C 5: 121,952,474 (GRCm39) L224P probably damaging Het
Bin2 T C 15: 100,543,169 (GRCm39) E338G probably damaging Het
Bloc1s5 T C 13: 38,818,960 (GRCm39) K20E probably damaging Het
Bst1 A T 5: 43,977,867 (GRCm39) D72V probably benign Het
Cacna1i T C 15: 80,272,680 (GRCm39) F1631L probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,550 (GRCm39) I355T possibly damaging Het
Chuk A T 19: 44,077,197 (GRCm39) M383K possibly damaging Het
Cnga4 A G 7: 105,054,937 (GRCm39) I174V probably benign Het
Cpd T C 11: 76,675,976 (GRCm39) K1226E probably benign Het
Crip2 T C 12: 113,104,204 (GRCm39) C5R probably damaging Het
Cyp3a11 T A 5: 145,797,305 (GRCm39) D358V probably damaging Het
Ebag9 T C 15: 44,487,915 (GRCm39) F21S probably damaging Het
Ercc1 A T 7: 19,084,629 (GRCm39) H70L probably damaging Het
Exoc3 G A 13: 74,347,764 (GRCm39) R69C probably damaging Het
Fgfr4 A T 13: 55,308,969 (GRCm39) R363S possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,434 (GRCm39) probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpr152 G A 19: 4,193,790 (GRCm39) V444I probably benign Het
Gss T C 2: 155,406,785 (GRCm39) E330G probably benign Het
Hbs1l A G 10: 21,234,287 (GRCm39) D556G possibly damaging Het
Helz2 T C 2: 180,871,913 (GRCm39) T2619A probably damaging Het
Hk3 A G 13: 55,160,409 (GRCm39) F304L probably damaging Het
Itgad A T 7: 127,797,702 (GRCm39) N906Y probably damaging Het
Jakmip2 T C 18: 43,710,465 (GRCm39) E246G probably damaging Het
L3mbtl4 A T 17: 68,866,748 (GRCm39) H329L probably damaging Het
Mau2 A G 8: 70,485,827 (GRCm39) probably null Het
Myo16 T C 8: 10,423,474 (GRCm39) L270P probably damaging Het
Naa25 T C 5: 121,568,755 (GRCm39) S606P probably damaging Het
Nags T A 11: 102,037,447 (GRCm39) C179* probably null Het
Naip2 A G 13: 100,298,044 (GRCm39) M664T probably benign Het
Ndufv3 T C 17: 31,747,043 (GRCm39) I311T probably benign Het
Nipsnap1 G T 11: 4,841,468 (GRCm39) E258* probably null Het
Nudc A G 4: 133,261,660 (GRCm39) L208P probably damaging Het
Or1e32 T C 11: 73,705,074 (GRCm39) Y278C probably benign Het
Or51a39 A T 7: 102,362,750 (GRCm39) V290E probably damaging Het
Oscp1 A G 4: 125,970,652 (GRCm39) D137G possibly damaging Het
Pcdhb5 C T 18: 37,455,524 (GRCm39) P635S probably benign Het
Pcdhgb2 T A 18: 37,825,103 (GRCm39) I698N probably damaging Het
Pde4b A G 4: 102,454,967 (GRCm39) Y399C probably damaging Het
Pdf A T 8: 107,774,812 (GRCm39) V140E probably damaging Het
Pglyrp2 T C 17: 32,634,823 (GRCm39) N513S probably benign Het
Ranbp2 T A 10: 58,312,878 (GRCm39) D1199E possibly damaging Het
Rell2 G T 18: 38,089,621 (GRCm39) probably null Het
Rgl2 A G 17: 34,156,147 (GRCm39) H745R probably benign Het
Rnf121 A G 7: 101,672,592 (GRCm39) C264R probably damaging Het
Rnf181 A G 6: 72,338,499 (GRCm39) F3S probably damaging Het
Rsrc1 T A 3: 67,262,935 (GRCm39) D296E probably damaging Het
Rubcn A T 16: 32,663,678 (GRCm39) D319E probably damaging Het
Scaf8 T C 17: 3,228,494 (GRCm39) S431P unknown Het
Septin11 T A 5: 93,310,112 (GRCm39) M305K possibly damaging Het
Serpinb12 A G 1: 106,884,132 (GRCm39) K293E probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Specc1 T A 11: 62,102,510 (GRCm39) V952E probably damaging Het
Spint2 G A 7: 28,956,211 (GRCm39) T158I probably benign Het
St8sia4 A T 1: 95,588,623 (GRCm39) W71R probably damaging Het
Tex48 C T 4: 63,530,151 (GRCm39) V23I possibly damaging Het
Tmc5 G A 7: 118,244,562 (GRCm39) G480D probably benign Het
Tmem8b T A 4: 43,689,713 (GRCm39) M330K probably damaging Het
Tnrc18 C T 5: 142,717,095 (GRCm39) R2453Q probably damaging Het
Trank1 A T 9: 111,220,963 (GRCm39) N2567Y possibly damaging Het
Trps1 T C 15: 50,709,705 (GRCm39) D211G probably damaging Het
Ttn T C 2: 76,555,503 (GRCm39) R30501G probably damaging Het
Ttn T A 2: 76,573,247 (GRCm39) Y25882F probably damaging Het
Unc79 T A 12: 103,139,725 (GRCm39) V2495E probably damaging Het
Uqcr10 T A 11: 4,652,198 (GRCm39) H58L possibly damaging Het
Vmn1r36 A T 6: 66,693,872 (GRCm39) M1K probably null Het
Wdr7 T A 18: 63,911,020 (GRCm39) M804K probably damaging Het
Zfp131 A C 13: 120,250,394 (GRCm39) probably null Het
Zfp507 A G 7: 35,493,480 (GRCm39) V521A probably benign Het
Other mutations in Usp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Usp7 APN 16 8,515,839 (GRCm39) missense probably damaging 0.96
IGL00496:Usp7 APN 16 8,512,977 (GRCm39) missense probably damaging 0.99
IGL02113:Usp7 APN 16 8,534,377 (GRCm39) critical splice donor site probably null
IGL02873:Usp7 APN 16 8,513,058 (GRCm39) unclassified probably benign
IGL03036:Usp7 APN 16 8,556,078 (GRCm39) missense probably benign 0.00
PIT4402001:Usp7 UTSW 16 8,516,359 (GRCm39) missense probably benign
R0066:Usp7 UTSW 16 8,509,282 (GRCm39) missense probably benign
R0400:Usp7 UTSW 16 8,534,496 (GRCm39) splice site probably benign
R0483:Usp7 UTSW 16 8,517,126 (GRCm39) missense probably damaging 1.00
R0625:Usp7 UTSW 16 8,522,846 (GRCm39) missense probably benign 0.00
R0626:Usp7 UTSW 16 8,511,778 (GRCm39) missense possibly damaging 0.54
R0837:Usp7 UTSW 16 8,521,366 (GRCm39) missense probably damaging 1.00
R0967:Usp7 UTSW 16 8,514,518 (GRCm39) unclassified probably benign
R1929:Usp7 UTSW 16 8,516,333 (GRCm39) missense probably benign 0.00
R2270:Usp7 UTSW 16 8,516,333 (GRCm39) missense probably benign 0.00
R2271:Usp7 UTSW 16 8,516,333 (GRCm39) missense probably benign 0.00
R2272:Usp7 UTSW 16 8,516,333 (GRCm39) missense probably benign 0.00
R3949:Usp7 UTSW 16 8,534,428 (GRCm39) missense probably damaging 1.00
R4411:Usp7 UTSW 16 8,526,778 (GRCm39) missense probably damaging 1.00
R4413:Usp7 UTSW 16 8,526,778 (GRCm39) missense probably damaging 1.00
R4500:Usp7 UTSW 16 8,513,759 (GRCm39) missense possibly damaging 0.89
R4651:Usp7 UTSW 16 8,516,278 (GRCm39) intron probably benign
R5483:Usp7 UTSW 16 8,516,404 (GRCm39) missense probably benign
R5610:Usp7 UTSW 16 8,534,374 (GRCm39) splice site probably null
R5734:Usp7 UTSW 16 8,519,845 (GRCm39) missense possibly damaging 0.91
R5964:Usp7 UTSW 16 8,529,966 (GRCm39) missense possibly damaging 0.52
R6753:Usp7 UTSW 16 8,514,775 (GRCm39) missense probably benign 0.25
R7171:Usp7 UTSW 16 8,534,390 (GRCm39) missense probably benign 0.01
R7263:Usp7 UTSW 16 8,514,588 (GRCm39) missense possibly damaging 0.89
R7420:Usp7 UTSW 16 8,527,985 (GRCm39) missense probably benign
R7654:Usp7 UTSW 16 8,519,907 (GRCm39) missense probably benign 0.33
R7789:Usp7 UTSW 16 8,516,675 (GRCm39) missense probably benign
R7808:Usp7 UTSW 16 8,523,027 (GRCm39) missense probably damaging 1.00
R8080:Usp7 UTSW 16 8,515,771 (GRCm39) missense probably benign 0.42
R8353:Usp7 UTSW 16 8,513,735 (GRCm39) missense probably benign 0.01
R8502:Usp7 UTSW 16 8,512,893 (GRCm39) critical splice donor site probably null
R8548:Usp7 UTSW 16 8,529,939 (GRCm39) missense possibly damaging 0.89
R9322:Usp7 UTSW 16 8,517,124 (GRCm39) missense probably damaging 0.97
R9438:Usp7 UTSW 16 8,522,833 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CACACCTTTAATTGACCAGGAGAC -3'
(R):5'- TTGGAGAAGCCCCAGAGAAC -3'

Sequencing Primer
(F):5'- AATTGACCAGGAGACTCTGTC -3'
(R):5'- AGAACTGCGCTGATGGCATC -3'
Posted On 2016-03-01