Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Usp53'

409927

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp53

Ensembl Gene

ENSMUSG00000039701

Gene Name

ubiquitin specific peptidase 53

Synonyms

Phxr3, Sp6

Accession Numbers

Ncbi RefSeq: NM_133857.3; MGI: 2139607

Is this an essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

122931493-122984510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122961415 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	Het

Other mutations in Usp53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R7859:Usp53	UTSW	3	122949766	missense	possibly damaging	0.91
R7861:Usp53	UTSW	3	122934463	missense	probably benign	0.26
R7911:Usp53	UTSW	3	122961267	missense	probably benign	0.00
R7962:Usp53	UTSW	3	122934351	missense	possibly damaging	0.90
R7965:Usp53	UTSW	3	122962882	critical splice donor site	probably null
R8193:Usp53	UTSW	3	122947363	missense	probably benign	0.02
R8210:Usp53	UTSW	3	122947396	missense	probably benign	0.27
R8848:Usp53	UTSW	3	122949176	missense	probably benign	0.16
R8848:Usp53	UTSW	3	122949586	missense	probably benign	0.01
R8966:Usp53	UTSW	3	122961332	missense	probably damaging	0.99
R9054:Usp53	UTSW	3	122934076	missense	probably benign	0.04
R9204:Usp53	UTSW	3	122947419	missense	probably benign	0.01
R9405:Usp53	UTSW	3	122953269	missense	probably damaging	1.00
X0025:Usp53	UTSW	3	122957583	critical splice donor site	probably null
Z1177:Usp53	UTSW	3	122953195	missense	probably benign	0.01

Posted On

2016-08-02