Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Usp53'

259719

Institutional Source

Beutler Lab

Gene Symbol

Usp53

Ensembl Gene

ENSMUSG00000039701

Gene Name

ubiquitin specific peptidase 53

Synonyms

Phxr3, Sp6

MMRRC Submission

040706-MU

Accession Numbers

Ncbi RefSeq: NM_133857.3; MGI: 2139607

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122931493-122984510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122949319 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 656 (E656G)

Ref Sequence

ENSEMBL: ENSMUSP00000087857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197934] [ENSMUST00000199329]

Predicted Effect

probably benign
Transcript: ENSMUST00000090379
AA Change: E656G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: E656G

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

probably benign
Transcript: ENSMUST00000197934

SMART Domains

Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701

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

noncoding transcript
Transcript: ENSMUST00000198814

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

Meta Mutation Damage Score

0.0740

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	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
IGL03119:Usp53	APN	3	122961415	missense	possibly damaging	0.80
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
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
X0025:Usp53	UTSW	3	122957583	critical splice donor site	probably null
Z1177:Usp53	UTSW	3	122953195	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTACCTGAAGGCTTTCCCAC -3'
(R):5'- ACCCTAAACGTCGATAGCG -3'

Sequencing Primer
(F):5'- TGAAGGCTTTCCCACCACCG -3'
(R):5'- CGATAGCGTTTTTAGTGAGAGC -3'

Posted On

2015-01-23