Incidental Mutation 'R0837:Usp7'
ID 78015
Institutional Source Beutler Lab
Gene Symbol Usp7
Ensembl Gene ENSMUSG00000022710
Gene Name ubiquitin specific peptidase 7
Synonyms 2210010O09Rik
MMRRC Submission 039016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0837 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 8506586-8574931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8521366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 135 (G135C)
Ref Sequence ENSEMBL: ENSMUSP00000133398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000161046] [ENSMUST00000172505]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159509
Predicted Effect probably benign
Transcript: ENSMUST00000160326
SMART Domains Protein: ENSMUSP00000124576
Gene: ENSMUSG00000022710

PDB:2F1Z|B 43 83 2e-18 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000160405
AA Change: G416C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: G416C

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: G376C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: G376C

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 damaging
Transcript: ENSMUST00000172505
AA Change: G135C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133398
Gene: ENSMUSG00000022710
AA Change: G135C

Pfam:UCH_1 5 247 1.7e-18 PFAM
Pfam:UCH 5 278 2.8e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162929
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 96% (44/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik T C 14: 60,333,375 (GRCm39) probably benign Het
4930579C12Rik A G 9: 89,050,260 (GRCm39) noncoding transcript Het
Adam34 T A 8: 44,104,537 (GRCm39) K369N probably benign Het
Ap1g1 T C 8: 110,577,697 (GRCm39) W481R probably damaging Het
Bicdl1 G A 5: 115,869,351 (GRCm39) P26S probably benign Het
Cacna1c A T 6: 118,607,231 (GRCm39) C1224* probably null Het
Cpsf2 C T 12: 101,963,501 (GRCm39) probably benign Het
Cyp11b2 G A 15: 74,725,490 (GRCm39) R210W probably damaging Het
Dock7 C T 4: 98,877,495 (GRCm39) V1048I probably benign Het
Dync2h1 C A 9: 7,077,979 (GRCm39) A2908S probably benign Het
Elane A G 10: 79,722,942 (GRCm39) D116G probably damaging Het
Epb41l2 C T 10: 25,383,714 (GRCm39) R153C probably damaging Het
Gucy2c G A 6: 136,699,418 (GRCm39) P617L probably damaging Het
H2ac21 G A 3: 96,127,439 (GRCm39) A70T probably damaging Het
Kcnq4 T A 4: 120,604,058 (GRCm39) I106L probably benign Het
Man2b1 A G 8: 85,823,458 (GRCm39) N931D possibly damaging Het
Mthfs A G 9: 89,097,443 (GRCm39) E100G probably damaging Het
Mto1 A T 9: 78,381,072 (GRCm39) I639F probably damaging Het
Myo15a A G 11: 60,378,077 (GRCm39) E177G probably damaging Het
Naip5 T A 13: 100,367,251 (GRCm39) M282L probably benign Het
Or10aa1 A G 1: 173,870,053 (GRCm39) D179G probably damaging Het
Pik3c2g G A 6: 139,903,425 (GRCm39) probably benign Het
Prl7d1 T A 13: 27,898,321 (GRCm39) M64L probably benign Het
Prnp A T 2: 131,778,444 (GRCm39) N32I probably damaging Het
Ptpn11 C T 5: 121,287,174 (GRCm39) V406I probably benign Het
Rab40c G A 17: 26,103,667 (GRCm39) T151I probably damaging Het
Rb1cc1 T A 1: 6,304,495 (GRCm39) probably null Het
Rnf145 T C 11: 44,415,815 (GRCm39) V10A probably benign Het
Rtn4rl2 T C 2: 84,711,036 (GRCm39) N70S probably damaging Het
Scaper A T 9: 55,766,326 (GRCm39) C483* probably null Het
Sema4a T A 3: 88,360,405 (GRCm39) Q58L possibly damaging Het
Slf1 T C 13: 77,249,067 (GRCm39) probably null Het
Sycp1 G T 3: 102,822,561 (GRCm39) N364K probably benign Het
Tenm4 T C 7: 96,545,482 (GRCm39) probably benign Het
Tnfaip2 A G 12: 111,417,141 (GRCm39) T537A probably damaging Het
Trappc12 A G 12: 28,753,596 (GRCm39) I573T possibly damaging Het
Ugt2b38 G A 5: 87,559,632 (GRCm39) T420I probably damaging Het
Ulk1 A T 5: 110,937,411 (GRCm39) probably benign Het
Unc80 G A 1: 66,688,103 (GRCm39) C2367Y possibly damaging Het
Vmn2r103 A G 17: 20,014,189 (GRCm39) Y327C probably damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Zfp804a A C 2: 82,089,506 (GRCm39) T1112P probably damaging Het
Zfr2 A G 10: 81,081,242 (GRCm39) K431E probably damaging Het
Zfy1 A T Y: 725,850 (GRCm39) Y638* probably null 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
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
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- tgatgggcagagacaggag -3'
Posted On 2013-10-16