Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Usp53'

372383

Institutional Source

Beutler Lab

Gene Symbol

Usp53

Ensembl Gene

ENSMUSG00000039701

Gene Name

ubiquitin specific peptidase 53

Synonyms

Phxr3, Sp6, mbo

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R4860 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

122725142-122778159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122755012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

Ref Sequence

ENSEMBL: ENSMUSP00000143460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090379] [ENSMUST00000197314] [ENSMUST00000197934] [ENSMUST00000199329] [ENSMUST00000199401]

AlphaFold

P15975

Predicted Effect

probably benign
Transcript: ENSMUST00000090379
AA Change: S148P

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: S148P

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: ENSMUST00000197314
AA Change: S148P

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701
AA Change: S148P

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: S148P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: S148P

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

possibly damaging
Transcript: ENSMUST00000199401
AA Change: S32P

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143460
Gene: ENSMUSG00000039701
AA Change: S32P

Domain	Start	End	E-Value	Type
low complexity region	76	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199923

Meta Mutation Damage Score

0.2143

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
R1707:Usp53	UTSW	3	122,741,049 (GRCm39)	missense	probably benign
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
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'- CTCACGAGTTCGGTAAAGGG -3'
(R):5'- GCTAGCGGTTATGGCATTCC -3'

Sequencing Primer
(F):5'- TTCGGTAAAGGGCAGAGGGTC -3'
(R):5'- CCTGCATTTACACTTTGGAAAATG -3'

Posted On

2016-03-01