Incidental Mutation 'IGL02873:Usp7'
ID362626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp7
Ensembl Gene ENSMUSG00000022710
Gene Nameubiquitin specific peptidase 7
Synonyms2210010O09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02873
Quality Score
Status
Chromosome16
Chromosomal Location8689595-8792308 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 8695194 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000161046] [ENSMUST00000172505]
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: 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173939
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,040 L528P probably damaging Het
4933405O20Rik A T 7: 50,599,683 H155L probably damaging Het
5830462I19Rik G A 9: 110,374,378 probably benign Het
Ankib1 T A 5: 3,772,619 Q29L probably damaging Het
Arid5b A T 10: 68,101,950 M449K probably benign Het
Atp1a1 A G 3: 101,576,578 V1017A probably benign Het
Cfap52 G T 11: 67,931,782 T421K probably damaging Het
Chd8 A T 14: 52,222,513 I780N probably damaging Het
Cubn T C 2: 13,294,370 D3164G probably benign Het
Cyp4f37 A T 17: 32,625,168 Q82L probably benign Het
Eml6 T A 11: 29,880,700 D265V probably benign Het
Gm14393 T C 2: 175,061,802 D104G possibly damaging Het
Gpat2 T C 2: 127,431,755 V271A probably benign Het
Ifna4 T C 4: 88,842,186 F109S probably damaging Het
Il27ra T C 8: 84,031,535 S529G probably benign Het
Jag2 A G 12: 112,910,502 L1011P probably benign Het
Kif7 A G 7: 79,706,759 L728P probably damaging Het
Klhl21 T C 4: 152,015,360 V509A probably benign Het
Map2k4 T A 11: 65,719,574 N92I probably damaging Het
Myo15 A T 11: 60,483,482 D1288V probably damaging Het
Olfr1002 C A 2: 85,647,752 A190S possibly damaging Het
Olfr1281 T C 2: 111,328,872 V151A probably benign Het
Paip1 T A 13: 119,445,812 F275L possibly damaging Het
Plxnd1 T C 6: 115,959,976 D1624G probably damaging Het
Ppwd1 C A 13: 104,209,753 D465Y probably damaging Het
Rftn1 A C 17: 50,169,152 probably benign Het
Scn1b T A 7: 31,117,757 Y180F probably damaging Het
Slc16a4 A G 3: 107,300,795 D207G probably benign Het
Slc2a3 T C 6: 122,740,414 T28A probably damaging Het
Slc47a1 G A 11: 61,362,817 probably benign Het
Spata1 A T 3: 146,487,367 V123D possibly damaging Het
Stard9 T C 2: 120,713,807 V4469A probably damaging Het
Trmu T A 15: 85,896,832 probably null Het
Trrap T A 5: 144,841,079 probably benign Het
Ttn T C 2: 76,896,131 probably benign Het
Tubgcp6 T C 15: 89,103,824 D974G probably benign Het
Tyw1 C T 5: 130,335,330 R621C probably benign Het
Zfp39 T C 11: 58,891,022 K305E probably benign Het
Zfp692 C T 11: 58,308,939 T118M probably damaging Het
Other mutations in Usp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Usp7 APN 16 8697975 missense probably damaging 0.96
IGL00496:Usp7 APN 16 8695113 missense probably damaging 0.99
IGL02113:Usp7 APN 16 8716513 critical splice donor site probably null
IGL03036:Usp7 APN 16 8738214 missense probably benign 0.00
PIT4402001:Usp7 UTSW 16 8698495 missense probably benign
R0066:Usp7 UTSW 16 8691418 missense probably benign
R0400:Usp7 UTSW 16 8716632 splice site probably benign
R0483:Usp7 UTSW 16 8699262 missense probably damaging 1.00
R0625:Usp7 UTSW 16 8704982 missense probably benign 0.00
R0626:Usp7 UTSW 16 8693914 missense possibly damaging 0.54
R0837:Usp7 UTSW 16 8703502 missense probably damaging 1.00
R0967:Usp7 UTSW 16 8696654 unclassified probably benign
R1929:Usp7 UTSW 16 8698469 missense probably benign 0.00
R2270:Usp7 UTSW 16 8698469 missense probably benign 0.00
R2271:Usp7 UTSW 16 8698469 missense probably benign 0.00
R2272:Usp7 UTSW 16 8698469 missense probably benign 0.00
R3949:Usp7 UTSW 16 8716564 missense probably damaging 1.00
R4411:Usp7 UTSW 16 8708914 missense probably damaging 1.00
R4413:Usp7 UTSW 16 8708914 missense probably damaging 1.00
R4500:Usp7 UTSW 16 8695895 missense possibly damaging 0.89
R4651:Usp7 UTSW 16 8698414 intron probably benign
R4852:Usp7 UTSW 16 8756844 nonsense probably null
R5483:Usp7 UTSW 16 8698540 missense probably benign
R5610:Usp7 UTSW 16 8716510 splice site probably null
R5734:Usp7 UTSW 16 8701981 missense possibly damaging 0.91
R5964:Usp7 UTSW 16 8712102 missense possibly damaging 0.52
R6753:Usp7 UTSW 16 8696911 missense probably benign 0.25
R7171:Usp7 UTSW 16 8716526 missense probably benign 0.01
R7263:Usp7 UTSW 16 8696724 missense possibly damaging 0.89
R7420:Usp7 UTSW 16 8710121 missense probably benign
R7654:Usp7 UTSW 16 8702043 missense probably benign 0.33
R7789:Usp7 UTSW 16 8698811 missense probably benign
R7808:Usp7 UTSW 16 8705163 missense probably damaging 1.00
Posted On2015-12-18