Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Usp3'

23976

Institutional Source

Beutler Lab

Gene Symbol

Usp3

Ensembl Gene

ENSMUSG00000032376

Gene Name

ubiquitin specific peptidase 3

Synonyms

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66421919-66500424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66469863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 86 (M86T)

Ref Sequence

ENSEMBL: ENSMUSP00000122199 (fasta)

Gene Model

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

AlphaFold

Q91W36

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000034940

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098613
AA Change: M86T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: M86T

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

noncoding transcript
Transcript: ENSMUST00000124519

Predicted Effect

probably damaging
Transcript: ENSMUST00000127569
AA Change: M86T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: M86T

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

probably benign
Transcript: ENSMUST00000139547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139952

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	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
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
R4562:Usp3	UTSW	9	66,428,047 (GRCm39)	intron	probably benign
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'- TTACAAGGAGCCACACGGTTCAC -3'
(R):5'- TGCTTGTCCCTAATCAAGGCGTAAC -3'

Sequencing Primer
(F):5'- agcccaggatgacctttaac -3'
(R):5'- CAAGGCGTAACTAAAATTTGACTG -3'

Posted On

2013-04-16