Incidental Mutation 'IGL03206:Usp53'
ID413141
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: 0.168) question?
Stock #IGL03206
Quality Score
Status
Chromosome3
Chromosomal Location122931493-122984510 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122953183 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 405 (M405L)
Ref Sequence ENSEMBL: ENSMUSP00000143412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197314] [ENSMUST00000197934] [ENSMUST00000199329]
Predicted Effect probably benign
Transcript: ENSMUST00000090379
AA Change: M378L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: M378L

DomainStartEndE-ValueType
Pfam:UCH 29 348 1.6e-20 PFAM
Pfam:UCH_1 30 322 9.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197314
SMART Domains Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701

DomainStartEndE-ValueType
Pfam:UCH 29 266 1.7e-15 PFAM
Pfam:UCH_1 30 266 2.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197934
AA Change: M405L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: M405L

DomainStartEndE-ValueType
Pfam:UCH 29 375 2.2e-21 PFAM
Pfam:UCH_1 30 349 5.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198814
Predicted Effect probably benign
Transcript: ENSMUST00000199329
SMART Domains Protein: ENSMUSP00000143119
Gene: ENSMUSG00000039701

DomainStartEndE-ValueType
Pfam:UCH 29 126 1.8e-6 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,276 E939D possibly damaging Het
Aloxe3 C A 11: 69,129,646 A172D possibly damaging Het
Bscl2 G A 19: 8,843,089 R158Q probably damaging Het
Cdon A G 9: 35,503,306 D1159G probably benign Het
Cep164 A G 9: 45,802,725 V203A probably benign Het
Chml T C 1: 175,687,737 D206G probably benign Het
E2f6 T C 12: 16,822,089 probably benign Het
Emilin3 T A 2: 160,910,799 Y77F probably damaging Het
Fbxw15 A T 9: 109,565,362 N128K possibly damaging Het
Gjd2 A G 2: 114,011,723 L91P probably damaging Het
Gm12830 T A 4: 114,845,117 probably benign Het
Gpr161 T A 1: 165,321,649 L529Q probably damaging Het
Hoxd10 T A 2: 74,692,432 Y151* probably null Het
Iars A G 13: 49,693,070 D215G possibly damaging Het
Ift140 T C 17: 25,092,826 V1241A probably damaging Het
Kdm5b A G 1: 134,627,317 N1321S probably benign Het
Lrat T A 3: 82,903,349 I122F probably damaging Het
Myl10 C T 5: 136,697,942 Q106* probably null Het
Ncapd2 A T 6: 125,171,697 Y1018N possibly damaging Het
Ndrg1 C T 15: 66,943,087 W172* probably null Het
Nphs2 T C 1: 156,326,131 M264T probably damaging Het
Nrxn3 A T 12: 89,260,508 R677S possibly damaging Het
Nudt12 T C 17: 59,007,672 T306A probably benign Het
Numb A G 12: 83,825,296 probably benign Het
Olfr1385 A T 11: 49,494,709 M59L probably benign Het
Olfr482 C T 7: 108,095,054 C172Y probably damaging Het
Olfr63 T A 17: 33,268,751 I9K possibly damaging Het
Pbld2 T A 10: 63,047,482 D94E probably benign Het
Pkd1l3 C A 8: 109,623,713 Q397K probably benign Het
Ppp4r3a A T 12: 101,058,619 L207H probably damaging Het
Ranbp2 T A 10: 58,465,547 I674N probably damaging Het
Retnlg G T 16: 48,874,292 C101F probably damaging Het
Rif1 T A 2: 52,103,622 I849N probably damaging Het
Serpinb9d T C 13: 33,198,031 I161T possibly damaging Het
Slc17a6 T C 7: 51,666,023 probably benign Het
Smg8 A C 11: 87,085,988 probably null Het
Spata31d1c C A 13: 65,035,593 N316K probably benign Het
Tlr1 A G 5: 64,925,057 S726P probably damaging Het
Trim69 A C 2: 122,173,155 D195A probably benign Het
Ttc16 T G 2: 32,771,885 probably null Het
Ywhag G A 5: 135,911,060 R227* probably null Het
Zfp335 G T 2: 164,892,681 probably benign Het
Zfp607a T C 7: 27,877,823 I106T possibly damaging Het
Zfp959 T C 17: 55,897,613 S214P possibly damaging Het
Zfyve9 T C 4: 108,689,209 M868V possibly damaging Het
Other mutations in Usp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Usp53 APN 3 122957718 missense probably damaging 0.99
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
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
R7613:Usp53 UTSW 3 122949818 missense probably benign 0.43
R7621:Usp53 UTSW 3 122961285 missense probably benign 0.00
R7652:Usp53 UTSW 3 122953235 missense possibly damaging 0.80
R7753:Usp53 UTSW 3 122949238 missense probably damaging 1.00
X0025:Usp53 UTSW 3 122957583 critical splice donor site probably null
Posted On2016-08-02