Incidental Mutation 'R7859:Usp53'
ID 607354
Institutional Source Beutler Lab
Gene Symbol Usp53
Ensembl Gene ENSMUSG00000039701
Gene Name ubiquitin specific peptidase 53
Synonyms Phxr3, Sp6, mbo
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 122725142-122778159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122743415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 507 (H507R)
Ref Sequence ENSEMBL: ENSMUSP00000087857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197934] [ENSMUST00000199329]
AlphaFold P15975
Predicted Effect possibly damaging
Transcript: ENSMUST00000090379
AA Change: H507R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: H507R

DomainStartEndE-ValueType
Pfam:UCH 29 348 1.6e-20 PFAM
Pfam:UCH_1 30 322 9.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197934
SMART Domains Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) 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
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
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
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'- GTCCCTTGAATCTTGGCTGC -3'
(R):5'- GTGTGCCTCATTCTTGAACTTAG -3'

Sequencing Primer
(F):5'- GGCTGCTGTCTGTTTCATATCCAG -3'
(R):5'- AGGCTGGCTTCAAACTCATG -3'
Posted On 2019-12-20