Incidental Mutation 'R0967:Usp7'
ID 262393
Institutional Source Beutler Lab
Gene Symbol Usp7
Ensembl Gene ENSMUSG00000022710
Gene Name ubiquitin specific peptidase 7
Synonyms 2210010O09Rik
MMRRC Submission 039096-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0967 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 8506586-8574931 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 8514518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000160405] [ENSMUST00000161046] [ENSMUST00000161046] [ENSMUST00000172505]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159387
Predicted Effect probably benign
Transcript: ENSMUST00000160326
SMART Domains Protein: ENSMUSP00000124576
Gene: ENSMUSG00000022710

DomainStartEndE-ValueType
PDB:2F1Z|B 43 83 2e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000160405
SMART Domains Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710

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
Predicted Effect probably benign
Transcript: ENSMUST00000160405
SMART Domains Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710

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
Predicted Effect probably benign
Transcript: ENSMUST00000161046
SMART Domains Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710

DomainStartEndE-ValueType
MATH 71 177 4.27e-22 SMART
Pfam:UCH 214 519 9.6e-60 PFAM
Pfam:UCH_1 215 488 5.1e-29 PFAM
Pfam:USP7_ICP0_bdg 620 866 5e-83 PFAM
Pfam:USP7_C2 875 1089 2.7e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161046
SMART Domains Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710

DomainStartEndE-ValueType
MATH 71 177 4.27e-22 SMART
Pfam:UCH 214 519 9.6e-60 PFAM
Pfam:UCH_1 215 488 5.1e-29 PFAM
Pfam:USP7_ICP0_bdg 620 866 5e-83 PFAM
Pfam:USP7_C2 875 1089 2.7e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173939
Predicted Effect probably benign
Transcript: ENSMUST00000172505
SMART Domains Protein: ENSMUSP00000133398
Gene: ENSMUSG00000022710

DomainStartEndE-ValueType
Pfam:UCH_1 5 247 1.7e-18 PFAM
Pfam:UCH 5 278 2.8e-47 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.1%
  • 20x: 90.5%
Validation Efficiency 100% (44/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,105,812 (GRCm39) E736* probably null Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
Camk1g T C 1: 193,032,604 (GRCm39) E269G probably damaging Het
Ccrl2 G A 9: 110,884,754 (GRCm39) T248M probably benign Het
Chd9 T C 8: 91,716,107 (GRCm39) S421P probably damaging Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Cplane2 T C 4: 140,947,162 (GRCm39) M181T probably benign Het
Csmd3 T C 15: 47,721,227 (GRCm39) E1468G probably null Het
Cyc1 T C 15: 76,229,848 (GRCm39) probably benign Het
Fli1 T A 9: 32,372,745 (GRCm39) T98S probably benign Het
Gk2 T C 5: 97,604,155 (GRCm39) S228G probably benign Het
Gse1 T A 8: 121,297,594 (GRCm39) probably benign Het
Hgf T A 5: 16,798,839 (GRCm39) probably benign Het
Hif1a G A 12: 73,984,444 (GRCm39) V300I possibly damaging Het
Hsd17b4 C A 18: 50,316,328 (GRCm39) H652N probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kif5c T A 2: 49,588,128 (GRCm39) probably benign Het
Lgr6 T C 1: 134,921,750 (GRCm39) Y198C probably damaging Het
Lpcat2b T A 5: 107,582,084 (GRCm39) M471K possibly damaging Het
Med21 A G 6: 146,551,697 (GRCm39) E116G probably benign Het
Mos A G 4: 3,870,932 (GRCm39) S295P probably benign Het
Ms4a15 A T 19: 10,956,685 (GRCm39) V209E probably damaging Het
Mttp A G 3: 137,798,484 (GRCm39) V804A probably benign Het
Or10ah1-ps1 A G 5: 143,123,594 (GRCm39) M121T probably damaging Het
Or52n4b T C 7: 108,143,996 (GRCm39) I86T probably damaging Het
Or5ac23 T A 16: 59,149,546 (GRCm39) T109S possibly damaging Het
Plagl1 T C 10: 13,003,986 (GRCm39) probably benign Het
Prpf8 T A 11: 75,385,256 (GRCm39) V797E probably damaging Het
Rars2 A G 4: 34,646,587 (GRCm39) D284G probably benign Het
Rassf8 T C 6: 145,765,676 (GRCm39) probably benign Het
Rfx3 A G 19: 27,783,751 (GRCm39) probably benign Het
Ripk4 A T 16: 97,545,372 (GRCm39) M362K probably damaging Het
Rubcn C A 16: 32,646,087 (GRCm39) E815D probably benign Het
Scn8a A G 15: 100,933,527 (GRCm39) Y1577C probably damaging Het
Sec24b C T 3: 129,790,431 (GRCm39) R698Q probably damaging Het
Ssc5d T A 7: 4,947,342 (GRCm39) L1232* probably null Het
Vmn2r51 T G 7: 9,834,012 (GRCm39) H342P probably damaging Het
Vmn2r70 A G 7: 85,208,827 (GRCm39) M550T probably damaging Het
Vmn2r81 T C 10: 79,083,857 (GRCm39) probably benign Het
Zc3h13 T C 14: 75,581,179 (GRCm39) I1722T possibly damaging 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
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
R4852:Usp7 UTSW 16 8,574,708 (GRCm39) nonsense probably null
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
Posted On 2015-02-04