Incidental Mutation 'IGL02511:Usp51'
ID296562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp51
Ensembl Gene ENSMUSG00000067215
Gene Nameubiquitin specific protease 51
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL02511
Quality Score
Status
ChromosomeX
Chromosomal Location153006469-153009416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 153008730 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Arginine at position 440 (I440R)
Ref Sequence ENSEMBL: ENSMUSP00000093427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095755]
Predicted Effect probably damaging
Transcript: ENSMUST00000095755
AA Change: I440R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093427
Gene: ENSMUSG00000067215
AA Change: I440R

DomainStartEndE-ValueType
low complexity region 47 72 N/A INTRINSIC
low complexity region 73 97 N/A INTRINSIC
low complexity region 99 119 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
Pfam:zf-UBP 192 253 3.9e-16 PFAM
low complexity region 303 311 N/A INTRINSIC
Pfam:UCH 319 653 3e-59 PFAM
Pfam:UCH_1 320 636 1.2e-29 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,861,766 probably benign Het
Adam3 T A 8: 24,695,176 D502V probably damaging Het
Adss T C 1: 177,771,134 probably benign Het
Ankrd36 T A 11: 5,660,845 probably null Het
Atf6b T C 17: 34,654,641 S692P probably benign Het
Cap2 T C 13: 46,531,022 M1T probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn1 A T 15: 92,216,385 probably benign Het
Copg2 A T 6: 30,858,822 F218Y probably benign Het
Dll4 G A 2: 119,326,466 G73E probably damaging Het
Dzip3 T C 16: 48,936,980 M897V possibly damaging Het
Ehbp1 T C 11: 22,089,653 R816G probably damaging Het
Enoph1 T C 5: 100,061,035 L83P probably benign Het
Enpep A G 3: 129,321,410 S238P probably damaging Het
Fermt1 A C 2: 132,933,166 probably benign Het
Gm6619 T A 6: 131,490,367 I65K possibly damaging Het
Krtap31-2 T A 11: 99,936,692 C117S possibly damaging Het
Ksr1 T C 11: 79,045,220 D106G possibly damaging Het
Lgr4 A T 2: 110,011,272 Y534F probably benign Het
Mamdc2 T C 19: 23,378,731 T118A probably benign Het
Myo10 T A 15: 25,723,889 I170N probably damaging Het
Myom2 T C 8: 15,065,743 S53P probably benign Het
Npl T A 1: 153,515,481 D176V probably damaging Het
Nrm T C 17: 35,861,424 S14P probably damaging Het
Olfr1043 A G 2: 86,162,019 I310T probably benign Het
Olfr111 A G 17: 37,529,979 M1V probably null Het
Olfr495 T A 7: 108,396,058 F313I probably benign Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Pard3 A T 8: 127,161,320 probably benign Het
Pdzd4 T A X: 73,794,600 M701L probably damaging Het
Pkhd1 A T 1: 20,073,507 V3865E possibly damaging Het
Plxna3 C A X: 74,335,385 Q712K probably damaging Het
Pon1 A G 6: 5,193,724 L9P probably damaging Het
Pygm A T 19: 6,385,688 I83F probably benign Het
Scyl2 A G 10: 89,640,819 S815P probably benign Het
Serpina1a C T 12: 103,855,967 W212* probably null Het
Slc38a9 C A 13: 112,698,007 D239E possibly damaging Het
Smad6 A G 9: 63,953,577 F479L probably damaging Het
Smarcc2 T C 10: 128,461,382 S48P probably damaging Het
Ttn T A 2: 76,937,690 M3022L unknown Het
Tulp1 C A 17: 28,356,168 R441L probably benign Het
Ugt1a10 T C 1: 88,055,863 F128L probably damaging Het
Ulk4 A G 9: 121,188,354 V686A probably damaging Het
Ush2a T C 1: 188,743,687 probably null Het
Ushbp1 T C 8: 71,390,937 M286V probably null Het
Wee1 G T 7: 110,139,276 R532L possibly damaging Het
Zfhx4 A G 3: 5,399,183 E1467G probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp551 A G 7: 12,416,675 V269A possibly damaging Het
Other mutations in Usp51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Usp51 APN X 153008673 missense probably damaging 1.00
P4748:Usp51 UTSW X 153008231 frame shift probably null
R1563:Usp51 UTSW X 153007992 missense probably benign 0.00
Z1088:Usp51 UTSW X 153008222 missense probably benign 0.00
Z1088:Usp51 UTSW X 153008223 missense probably benign 0.00
Posted On2015-04-16