Mutagenetix > Incidental Mutation

Incidental Mutation 'R4562:Usp3'

343151

Institutional Source

Beutler Lab

Gene Symbol

Usp3

Ensembl Gene

ENSMUSG00000032376

Gene Name

ubiquitin specific peptidase 3

Synonyms

MMRRC Submission

041787-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R4562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66421919-66500424 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 66428047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098613] [ENSMUST00000127569] [ENSMUST00000139547] [ENSMUST00000174387]

AlphaFold

Q91W36

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000034940

Predicted Effect

probably benign
Transcript: ENSMUST00000098613

SMART Domains

Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	107	6.6e-23	PFAM
low complexity region	135	150	N/A	INTRINSIC
Pfam:UCH	158	188	1.1e-8	PFAM
Pfam:UCH	178	470	4.2e-54	PFAM
Pfam:UCH_1	193	452	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127569

SMART Domains

Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	107	1.2e-22	PFAM
low complexity region	135	150	N/A	INTRINSIC
Pfam:UCH	158	508	2.5e-61	PFAM
Pfam:UCH_1	206	490	2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132255

Predicted Effect

probably benign
Transcript: ENSMUST00000139547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150840

Predicted Effect

probably benign
Transcript: ENSMUST00000174387

SMART Domains

Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	142	1.6e-7	PFAM
Pfam:UCH	114	464	9.9e-69	PFAM
Pfam:UCH_1	115	446	2e-26	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a chromatin-associated histone 2A and 2B deubiquitinating enzyme that negatively regulates the DNA damage response. Mice deficient for this enzyme have reduced hematopoietic stem cell reserves, demonstrating a requirement in hematopoietic stem cell homeostasis. In addition, knock down of protein levels results in spontaneous tumor development and shortened lifespan, consistent with a function in preserving chromosomal integrity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,120,331 (GRCm39)	R25K	probably benign	Het
Acap1	C	T	11: 69,776,177 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,098,215 (GRCm39)	L309P	probably damaging	Het
Asap2	A	G	12: 21,162,094 (GRCm39)	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,689,962 (GRCm39)	V590D	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Cad	G	A	5: 31,215,477 (GRCm39)	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,763,240 (GRCm39)	T1303A	probably benign	Het
Defa24	A	G	8: 22,224,523 (GRCm39)		probably benign	Het
Dffb	A	G	4: 154,049,913 (GRCm39)	C317R	probably damaging	Het
Erap1	T	C	13: 74,821,778 (GRCm39)	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074 (GRCm39)	S71P	possibly damaging	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gm10797	A	G	10: 67,408,515 (GRCm39)		noncoding transcript	Het
Gm10822	C	T	2: 73,729,833 (GRCm39)		noncoding transcript	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ift22	A	G	5: 136,941,724 (GRCm39)	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,226,498 (GRCm39)	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,511,303 (GRCm39)	H275R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klf14	G	A	6: 30,935,394 (GRCm39)	A80V	probably damaging	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,273,215 (GRCm39)		probably null	Het
Mef2b	G	A	8: 70,619,918 (GRCm39)	D345N	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr10	C	T	7: 63,963,907 (GRCm39)	T214M	possibly damaging	Het
Or10g9b	A	G	9: 39,917,577 (GRCm39)	S223P	probably damaging	Het
Or13g1	A	G	7: 85,956,360 (GRCm39)		probably benign	Het
Or4f4b	A	T	2: 111,313,909 (GRCm39)	M45L	probably benign	Het
Orc1	T	C	4: 108,459,252 (GRCm39)		probably null	Het
P4htm	T	C	9: 108,459,195 (GRCm39)	S246G	probably null	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde6b	A	G	5: 108,551,234 (GRCm39)	K173E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Plekhh2	A	G	17: 84,873,525 (GRCm39)	D270G	probably benign	Het
Prr5	A	C	15: 84,626,114 (GRCm39)	D63A	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Ryr1	C	A	7: 28,774,005 (GRCm39)		probably benign	Het
Slc4a1ap	G	A	5: 31,689,373 (GRCm39)	V347M	probably damaging	Het
Tasor	A	G	14: 27,188,265 (GRCm39)	T904A	possibly damaging	Het
Tln1	C	A	4: 43,533,598 (GRCm39)	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,509,209 (GRCm39)	A5T	probably damaging	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,203,313 (GRCm39)	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,516,020 (GRCm39)	D316G	probably damaging	Het
Trerf1	G	A	17: 47,637,997 (GRCm39)		noncoding transcript	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Unc79	C	T	12: 102,957,720 (GRCm39)	T45I	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,672,986 (GRCm39)	Q130*	probably null	Het
Wdr31	A	C	4: 62,372,159 (GRCm39)	L319W	probably damaging	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	Het

Other mutations in Usp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Usp3	APN	9	66,469,834 (GRCm39)	critical splice donor site	probably null
IGL02951:Usp3	APN	9	66,449,832 (GRCm39)	nonsense	probably null
IGL03283:Usp3	APN	9	66,469,831 (GRCm39)	splice site	probably null
R0148:Usp3	UTSW	9	66,447,449 (GRCm39)	missense	possibly damaging	0.80
R0152:Usp3	UTSW	9	66,447,432 (GRCm39)	missense	probably damaging	0.97
R0184:Usp3	UTSW	9	66,469,863 (GRCm39)	missense	probably damaging	0.99
R0628:Usp3	UTSW	9	66,425,726 (GRCm39)	missense	probably benign	0.05
R1036:Usp3	UTSW	9	66,437,513 (GRCm39)	splice site	probably benign
R2251:Usp3	UTSW	9	66,469,860 (GRCm39)	missense	probably damaging	0.99
R2437:Usp3	UTSW	9	66,453,024 (GRCm39)	critical splice donor site	probably null
R3957:Usp3	UTSW	9	66,469,873 (GRCm39)	missense	probably benign	0.04
R4320:Usp3	UTSW	9	66,437,530 (GRCm39)	missense	possibly damaging	0.80
R4439:Usp3	UTSW	9	66,425,776 (GRCm39)	missense	probably benign	0.00
R4659:Usp3	UTSW	9	66,434,352 (GRCm39)	splice site	probably null
R4742:Usp3	UTSW	9	66,427,959 (GRCm39)	missense	probably damaging	1.00
R5134:Usp3	UTSW	9	66,449,814 (GRCm39)	missense	possibly damaging	0.82
R5242:Usp3	UTSW	9	66,434,432 (GRCm39)	missense	probably damaging	1.00
R5556:Usp3	UTSW	9	66,451,303 (GRCm39)	missense	possibly damaging	0.88
R6949:Usp3	UTSW	9	66,427,972 (GRCm39)	missense	probably benign	0.37
R7440:Usp3	UTSW	9	66,437,537 (GRCm39)	missense	probably benign	0.03
R7452:Usp3	UTSW	9	66,474,180 (GRCm39)	missense	probably benign	0.11
R7547:Usp3	UTSW	9	66,449,906 (GRCm39)	missense	possibly damaging	0.46
R9250:Usp3	UTSW	9	66,449,793 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACATCACTGACCTTGGGAAG -3'
(R):5'- CTGCCTTATCTAGGGAACAAAGGAC -3'

Sequencing Primer
(F):5'- CACTGACCTTGGGAAGTTTTTGAATC -3'
(R):5'- TGGCTGTCCTGGAACTCAC -3'

Posted On

2015-09-24