Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Usp53'

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502548

Institutional Source

Beutler Lab

Gene Symbol

Usp53

Ensembl Gene

ENSMUSG00000039701

Gene Name

ubiquitin specific peptidase 53

Synonyms

Phxr3, Sp6

MMRRC Submission

044331-MU

Accession Numbers

Ncbi RefSeq: NM_133857.3; MGI: 2139607

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122931493-122984510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122949741 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 515 (K515N)

Ref Sequence

ENSEMBL: ENSMUSP00000087857 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090379
AA Change: K515N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: K515N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCGGCTTTTAGTCTTACTAC -3'
(R):5'- CAAGTGACAGTGTGCCTCATTC -3'

Sequencing Primer
(F):5'- GCGGCTTTTAGTCTTACTACTGTAGC -3'
(R):5'- AGGCTGGCTTCAAACTCATG -3'

Posted On

2018-02-27