Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Usp53'

190125

Institutional Source

Beutler Lab

Gene Symbol

Usp53

Ensembl Gene

ENSMUSG00000039701

Gene Name

ubiquitin specific peptidase 53

Synonyms

Phxr3, Sp6, mbo

MMRRC Submission

039740-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122725142-122778159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122741049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 734 (M734V)

Ref Sequence

ENSEMBL: ENSMUSP00000087857 (fasta)

Gene Model

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

AlphaFold

P15975

Predicted Effect

probably benign
Transcript: ENSMUST00000090379
AA Change: M734V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: M734V

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

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Acox3	T	A	5: 35,758,908 (GRCm39)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nasp	T	A	4: 116,476,133 (GRCm39)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nod2	A	C	8: 89,397,104 (GRCm39)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	possibly damaging	Het

Other mutations in Usp53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7859:Usp53	UTSW	3	122,743,415 (GRCm39)	missense	possibly damaging	0.91
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'- GGGATTTCAGGCACAAATCACCTGAC -3'
(R):5'- TGCGGATTGTAGGCCACCTTGAAC -3'

Sequencing Primer
(F):5'- tgagcagccacagggag -3'
(R):5'- ggccaccttgaactataTAAAAAAGC -3'

Posted On

2014-05-14