Incidental Mutation 'IGL00496:Usp7'
ID 5803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp7
Ensembl Gene ENSMUSG00000022710
Gene Name ubiquitin specific peptidase 7
Synonyms 2210010O09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00496
Quality Score
Status
Chromosome 16
Chromosomal Location 8506586-8574931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8512977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 795 (V795A)
Ref Sequence ENSEMBL: ENSMUSP00000124093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000161046] [ENSMUST00000172505]
AlphaFold no structure available at present
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 damaging
Transcript: ENSMUST00000160405
AA Change: V835A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: V835A

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 damaging
Transcript: ENSMUST00000161046
AA Change: V795A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: V795A

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,960,400 (GRCm39) V14M possibly damaging Het
Adgrg6 C A 10: 14,326,322 (GRCm39) probably null Het
Ankmy1 A G 1: 92,813,988 (GRCm39) L397P probably damaging Het
Atp6v1c1 A G 15: 38,687,100 (GRCm39) K232E probably damaging Het
Cnfn G T 7: 25,067,385 (GRCm39) probably benign Het
Copb2 A G 9: 98,452,371 (GRCm39) T52A probably benign Het
Daw1 A C 1: 83,174,957 (GRCm39) L152F probably damaging Het
Gpr87 A T 3: 59,087,211 (GRCm39) I98K probably damaging Het
Il17a G A 1: 20,802,507 (GRCm39) R72H probably damaging Het
Lmtk2 A G 5: 144,111,512 (GRCm39) Q744R probably benign Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Micall2 T C 5: 139,702,083 (GRCm39) T387A probably benign Het
Nckap1 T A 2: 80,336,546 (GRCm39) I1057F possibly damaging Het
Nr1h3 T C 2: 91,020,544 (GRCm39) D263G probably damaging Het
Nrip1 A T 16: 76,090,591 (GRCm39) V322E possibly damaging Het
Pck1 T C 2: 172,995,911 (GRCm39) probably null Het
Ppp3r2 A G 4: 49,681,773 (GRCm39) I59T possibly damaging Het
Pradc1 A G 6: 85,424,948 (GRCm39) probably null Het
Psmd14 A G 2: 61,591,026 (GRCm39) Y32C probably damaging Het
Rrp12 A C 19: 41,866,466 (GRCm39) probably null Het
Scaf8 A T 17: 3,221,409 (GRCm39) I299F unknown Het
Selenoo A G 15: 88,979,875 (GRCm39) D341G probably damaging Het
Slc1a6 C A 10: 78,629,142 (GRCm39) N186K probably damaging Het
Smarcc2 T A 10: 128,298,924 (GRCm39) S102R probably damaging Het
Stambpl1 T A 19: 34,217,430 (GRCm39) V423E probably damaging Het
Svep1 A C 4: 58,069,001 (GRCm39) C2928W possibly damaging Het
Tmed9 T C 13: 55,741,334 (GRCm39) Y43H probably benign Het
Ttn T C 2: 76,571,091 (GRCm39) T24855A possibly damaging Het
Wdr17 A C 8: 55,112,614 (GRCm39) probably benign Het
Other mutations in Usp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Usp7 APN 16 8,515,839 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2012-04-20