Incidental Mutation 'IGL01112:Usp53'
ID50752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp53
Ensembl Gene ENSMUSG00000039701
Gene Nameubiquitin specific peptidase 53
SynonymsPhxr3, Sp6
Accession Numbers

Ncbi RefSeq: NM_133857.3; MGI: 2139607

Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01112
Quality Score
Status
Chromosome3
Chromosomal Location122931493-122984510 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122957718 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 230 (Q230L)
Ref Sequence ENSEMBL: ENSMUSP00000142600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197314] [ENSMUST00000197934] [ENSMUST00000199329] [ENSMUST00000199401]
Predicted Effect probably damaging
Transcript: ENSMUST00000090379
AA Change: Q230L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: Q230L

DomainStartEndE-ValueType
Pfam:UCH 29 348 1.6e-20 PFAM
Pfam:UCH_1 30 322 9.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197314
AA Change: Q230L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701
AA Change: Q230L

DomainStartEndE-ValueType
Pfam:UCH 29 266 1.7e-15 PFAM
Pfam:UCH_1 30 266 2.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197801
Predicted Effect possibly damaging
Transcript: ENSMUST00000197934
AA Change: Q257L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: Q257L

DomainStartEndE-ValueType
Pfam:UCH 29 375 2.2e-21 PFAM
Pfam:UCH_1 30 349 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199329
SMART Domains Protein: ENSMUSP00000143119
Gene: ENSMUSG00000039701

DomainStartEndE-ValueType
Pfam:UCH 29 126 1.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199401
SMART Domains Protein: ENSMUSP00000143460
Gene: ENSMUSG00000039701

DomainStartEndE-ValueType
low complexity region 76 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199923
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss. [provided by MGI curators]
Allele List at MGI

All alleles(48) : Gene trapped(48)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,637,145 I401V possibly damaging Het
Ap2a2 A T 7: 141,605,019 probably benign Het
Apol7c T A 15: 77,526,437 D103V probably damaging Het
Arid4a T C 12: 71,072,733 probably null Het
Atp2a1 A G 7: 126,450,307 V521A probably benign Het
Ccdc88c G T 12: 100,916,803 D1603E probably benign Het
Clec4f T C 6: 83,653,200 I125M probably benign Het
Dsc1 T C 18: 20,094,622 I520V probably benign Het
Eomes G A 9: 118,482,266 A386T probably damaging Het
Gldc C T 19: 30,158,513 probably null Het
Hectd4 G T 5: 121,306,950 M1420I probably benign Het
Hmcn1 A T 1: 150,632,552 probably benign Het
Ighv6-3 G A 12: 114,391,715 T118I possibly damaging Het
Krt82 A G 15: 101,545,523 F250S probably damaging Het
Ltb A G 17: 35,194,600 T27A probably benign Het
Mex3b T A 7: 82,869,703 S409T probably benign Het
Mki67 A T 7: 135,714,016 I39N probably damaging Het
Olfr576 A G 7: 102,966,028 probably benign Het
Palmd A G 3: 116,924,273 S192P probably damaging Het
Pcdh20 A T 14: 88,467,200 M888K probably benign Het
Pclo A T 5: 14,681,069 H3195L unknown Het
Pgm1 A T 5: 64,102,882 I137F possibly damaging Het
Polq T A 16: 37,017,309 N194K probably damaging Het
Rmnd1 T C 10: 4,410,793 probably null Het
Rnf114 T C 2: 167,512,539 M180T probably damaging Het
Sap30 A G 8: 57,485,089 F165L possibly damaging Het
Scgb3a2 T A 18: 43,766,994 probably benign Het
Sftpa1 A T 14: 41,132,570 N38I probably benign Het
Sumf1 A G 6: 108,176,016 F137S probably damaging Het
Tln2 C A 9: 67,311,811 R284L probably damaging Het
Ttn T A 2: 76,710,464 R25732S probably damaging Het
Ttn C T 2: 76,740,359 R26730Q probably damaging Het
Tubgcp4 T C 2: 121,173,601 V41A probably benign Het
Vmn2r57 T C 7: 41,425,043 E532G probably damaging Het
Vps9d1 G T 8: 123,246,030 N454K probably damaging Het
Wdr55 T C 18: 36,762,079 probably null Het
Zfp263 T A 16: 3,748,912 C76S probably benign Het
Other mutations in Usp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Usp53 APN 3 122961153 critical splice donor site probably null
IGL02115:Usp53 APN 3 122947390 missense probably benign 0.25
IGL02993:Usp53 APN 3 122933843 missense probably damaging 1.00
IGL03119:Usp53 APN 3 122961415 missense possibly damaging 0.80
IGL03206:Usp53 APN 3 122953183 missense probably benign
IGL03369:Usp53 APN 3 122933721 utr 3 prime probably benign
R0066:Usp53 UTSW 3 122953307 nonsense probably null
R0066:Usp53 UTSW 3 122953307 nonsense probably null
R0366:Usp53 UTSW 3 122949201 missense probably damaging 1.00
R1015:Usp53 UTSW 3 122933759 missense probably benign 0.02
R1388:Usp53 UTSW 3 122957628 missense probably damaging 0.96
R1592:Usp53 UTSW 3 122934050 nonsense probably null
R1635:Usp53 UTSW 3 122934223 missense probably benign 0.03
R1707:Usp53 UTSW 3 122947400 missense probably benign
R2177:Usp53 UTSW 3 122936057 missense probably damaging 0.99
R2848:Usp53 UTSW 3 122934491 missense probably benign 0.00
R2898:Usp53 UTSW 3 122957574 nonsense probably null
R3411:Usp53 UTSW 3 122949858 critical splice acceptor site probably null
R3618:Usp53 UTSW 3 122934412 missense probably benign 0.25
R3713:Usp53 UTSW 3 122949319 missense probably benign 0.08
R3715:Usp53 UTSW 3 122949319 missense probably benign 0.08
R3923:Usp53 UTSW 3 122934305 missense probably benign 0.11
R4616:Usp53 UTSW 3 122959120 missense probably damaging 1.00
R4718:Usp53 UTSW 3 122933982 missense probably benign 0.22
R4730:Usp53 UTSW 3 122962933 missense probably null 0.82
R4860:Usp53 UTSW 3 122961363 missense possibly damaging 0.90
R4860:Usp53 UTSW 3 122961363 missense possibly damaging 0.90
R5073:Usp53 UTSW 3 122933946 missense probably benign 0.21
R5580:Usp53 UTSW 3 122934234 missense probably benign 0.00
R5894:Usp53 UTSW 3 122959085 missense probably damaging 0.96
R6176:Usp53 UTSW 3 122934003 nonsense probably null
R6191:Usp53 UTSW 3 122949741 missense probably damaging 0.96
R6634:Usp53 UTSW 3 122964286 missense probably benign 0.00
R7179:Usp53 UTSW 3 122949710 missense probably benign 0.01
R7211:Usp53 UTSW 3 122957650 missense probably damaging 0.98
X0025:Usp53 UTSW 3 122957583 critical splice donor site probably null
Posted On2013-06-21