Incidental Mutation 'IGL03119:Usp53'
ID 409927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp53
Ensembl Gene ENSMUSG00000039701
Gene Name ubiquitin specific peptidase 53
Synonyms Phxr3, Sp6, mbo
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # IGL03119
Quality Score
Status
Chromosome 3
Chromosomal Location 122725142-122778159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122755064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 130 (R130S)
Ref Sequence ENSEMBL: ENSMUSP00000142600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197314] [ENSMUST00000197934] [ENSMUST00000199329] [ENSMUST00000199401]
AlphaFold P15975
Predicted Effect possibly damaging
Transcript: ENSMUST00000090379
AA Change: R130S

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: R130S

DomainStartEndE-ValueType
Pfam:UCH 29 348 1.6e-20 PFAM
Pfam:UCH_1 30 322 9.6e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197314
AA Change: R130S

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701
AA Change: R130S

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 probably benign
Transcript: ENSMUST00000197934
AA Change: R130S

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: R130S

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
AA Change: R14S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143460
Gene: ENSMUSG00000039701
AA Change: R14S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Usp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Usp53 APN 3 122,751,367 (GRCm39) missense probably damaging 0.99
IGL01965:Usp53 APN 3 122,754,802 (GRCm39) critical splice donor site probably null
IGL02115:Usp53 APN 3 122,741,039 (GRCm39) missense probably benign 0.25
IGL02993:Usp53 APN 3 122,727,492 (GRCm39) missense probably damaging 1.00
IGL03206:Usp53 APN 3 122,746,832 (GRCm39) missense probably benign
IGL03369:Usp53 APN 3 122,727,370 (GRCm39) utr 3 prime probably benign
R0066:Usp53 UTSW 3 122,746,956 (GRCm39) nonsense probably null
R0066:Usp53 UTSW 3 122,746,956 (GRCm39) nonsense probably null
R0366:Usp53 UTSW 3 122,742,850 (GRCm39) missense probably damaging 1.00
R1015:Usp53 UTSW 3 122,727,408 (GRCm39) missense probably benign 0.02
R1388:Usp53 UTSW 3 122,751,277 (GRCm39) missense probably damaging 0.96
R1592:Usp53 UTSW 3 122,727,699 (GRCm39) nonsense probably null
R1635:Usp53 UTSW 3 122,727,872 (GRCm39) missense probably benign 0.03
R1707:Usp53 UTSW 3 122,741,049 (GRCm39) missense probably benign
R2177:Usp53 UTSW 3 122,729,706 (GRCm39) missense probably damaging 0.99
R2848:Usp53 UTSW 3 122,728,140 (GRCm39) missense probably benign 0.00
R2898:Usp53 UTSW 3 122,751,223 (GRCm39) nonsense probably null
R3411:Usp53 UTSW 3 122,743,507 (GRCm39) critical splice acceptor site probably null
R3618:Usp53 UTSW 3 122,728,061 (GRCm39) missense probably benign 0.25
R3713:Usp53 UTSW 3 122,742,968 (GRCm39) missense probably benign 0.08
R3715:Usp53 UTSW 3 122,742,968 (GRCm39) missense probably benign 0.08
R3923:Usp53 UTSW 3 122,727,954 (GRCm39) missense probably benign 0.11
R4616:Usp53 UTSW 3 122,752,769 (GRCm39) missense probably damaging 1.00
R4718:Usp53 UTSW 3 122,727,631 (GRCm39) missense probably benign 0.22
R4730:Usp53 UTSW 3 122,756,582 (GRCm39) missense probably null 0.82
R4860:Usp53 UTSW 3 122,755,012 (GRCm39) missense possibly damaging 0.90
R4860:Usp53 UTSW 3 122,755,012 (GRCm39) missense possibly damaging 0.90
R5073:Usp53 UTSW 3 122,727,595 (GRCm39) missense probably benign 0.21
R5580:Usp53 UTSW 3 122,727,883 (GRCm39) missense probably benign 0.00
R5894:Usp53 UTSW 3 122,752,734 (GRCm39) missense probably damaging 0.96
R6176:Usp53 UTSW 3 122,727,652 (GRCm39) nonsense probably null
R6191:Usp53 UTSW 3 122,743,390 (GRCm39) missense probably damaging 0.96
R6634:Usp53 UTSW 3 122,757,935 (GRCm39) missense probably benign 0.00
R7179:Usp53 UTSW 3 122,743,359 (GRCm39) missense probably benign 0.01
R7211:Usp53 UTSW 3 122,751,299 (GRCm39) missense probably damaging 0.98
R7613:Usp53 UTSW 3 122,743,467 (GRCm39) missense probably benign 0.43
R7621:Usp53 UTSW 3 122,754,934 (GRCm39) missense probably benign 0.00
R7652:Usp53 UTSW 3 122,746,884 (GRCm39) missense possibly damaging 0.80
R7753:Usp53 UTSW 3 122,742,887 (GRCm39) missense probably damaging 1.00
R7859:Usp53 UTSW 3 122,743,415 (GRCm39) missense possibly damaging 0.91
R7861:Usp53 UTSW 3 122,728,112 (GRCm39) missense probably benign 0.26
R7911:Usp53 UTSW 3 122,754,916 (GRCm39) missense probably benign 0.00
R7962:Usp53 UTSW 3 122,728,000 (GRCm39) missense possibly damaging 0.90
R7965:Usp53 UTSW 3 122,756,531 (GRCm39) critical splice donor site probably null
R8193:Usp53 UTSW 3 122,741,012 (GRCm39) missense probably benign 0.02
R8210:Usp53 UTSW 3 122,741,045 (GRCm39) missense probably benign 0.27
R8848:Usp53 UTSW 3 122,743,235 (GRCm39) missense probably benign 0.01
R8848:Usp53 UTSW 3 122,742,825 (GRCm39) missense probably benign 0.16
R8966:Usp53 UTSW 3 122,754,981 (GRCm39) missense probably damaging 0.99
R9054:Usp53 UTSW 3 122,727,725 (GRCm39) missense probably benign 0.04
R9204:Usp53 UTSW 3 122,741,068 (GRCm39) missense probably benign 0.01
R9405:Usp53 UTSW 3 122,746,918 (GRCm39) missense probably damaging 1.00
X0025:Usp53 UTSW 3 122,751,232 (GRCm39) critical splice donor site probably null
Z1177:Usp53 UTSW 3 122,746,844 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02