Incidental Mutation 'R3618:Usp53'
ID 268507
Institutional Source Beutler Lab
Gene Symbol Usp53
Ensembl Gene ENSMUSG00000039701
Gene Name ubiquitin specific peptidase 53
Synonyms Phxr3, Sp6, mbo
MMRRC Submission 040675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R3618 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 122725142-122778159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122728061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 840 (S840R)
Ref Sequence ENSEMBL: ENSMUSP00000087857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090379]
AlphaFold P15975
Predicted Effect probably benign
Transcript: ENSMUST00000090379
AA Change: S840R

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: S840R

DomainStartEndE-ValueType
Pfam:UCH 29 348 1.6e-20 PFAM
Pfam:UCH_1 30 322 9.6e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,168 (GRCm39) E1119G probably damaging Het
Ahnak2 A G 12: 112,749,842 (GRCm39) I132T probably damaging Het
Arhgap29 G A 3: 121,782,176 (GRCm39) D63N possibly damaging Het
Bsn T A 9: 107,994,760 (GRCm39) probably null Het
Cfap161 A C 7: 83,429,390 (GRCm39) Y209* probably null Het
Drp2 A C X: 133,340,717 (GRCm39) D458A probably benign Het
Efcab6 T C 15: 83,834,270 (GRCm39) H446R probably benign Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
F13a1 G A 13: 37,127,967 (GRCm39) T337I probably damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Hcfc1 A T X: 72,993,694 (GRCm39) V1157D probably benign Het
Inava A C 1: 136,142,110 (GRCm39) V663G probably benign Het
Ino80 T C 2: 119,277,353 (GRCm39) D374G probably null Het
Kif1a T C 1: 93,004,765 (GRCm39) E143G probably null Het
Larp1 A T 11: 57,948,172 (GRCm39) E990D probably benign Het
Larp7 C A 3: 127,330,614 (GRCm39) E568* probably null Het
Ltn1 A T 16: 87,217,787 (GRCm39) S298R probably damaging Het
Mcm10 A G 2: 5,001,913 (GRCm39) probably null Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Mroh1 A G 15: 76,336,546 (GRCm39) T1590A possibly damaging Het
Ncoa6 A T 2: 155,249,709 (GRCm39) H1198Q possibly damaging Het
Ogg1 A G 6: 113,305,334 (GRCm39) E49G probably damaging Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Parp3 T C 9: 106,352,262 (GRCm39) E88G possibly damaging Het
Ptprs A G 17: 56,735,965 (GRCm39) I156T probably benign Het
Pus7l T A 15: 94,425,788 (GRCm39) I538F probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Ryr2 C T 13: 11,787,466 (GRCm39) probably null Het
Slc8a2 A G 7: 15,886,824 (GRCm39) N656D possibly damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tbcel T C 9: 42,372,591 (GRCm39) probably benign Het
Trpv3 A T 11: 73,186,281 (GRCm39) I691F probably damaging Het
Uba2 A G 7: 33,853,907 (GRCm39) probably null Het
Vmn2r100 A T 17: 19,743,692 (GRCm39) I452F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Zfp42 T C 8: 43,748,938 (GRCm39) R188G possibly damaging 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
IGL03119:Usp53 APN 3 122,755,064 (GRCm39) missense possibly damaging 0.80
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
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
Predicted Primers PCR Primer
(F):5'- ATCTGACAACTATCAGCATTGCAG -3'
(R):5'- TAAATTCCAGGTCACAGATTGGTG -3'

Sequencing Primer
(F):5'- TATCAGCATTGCAGGCAGAC -3'
(R):5'- GGTGAAACCAATGACAAGTTGTTTCC -3'
Posted On 2015-02-19