Incidental Mutation 'IGL02113:Usp7'
ID 280271
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 # IGL02113
Quality Score
Status
Chromosome 16
Chromosomal Location 8506586-8574931 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 8534377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000161046]
AlphaFold no structure available at present
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 null
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 null
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably 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
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 2015-04-16