Mutagenetix > Incidental Mutation

Incidental Mutation 'R2251:Usp3'

241683

Institutional Source

Beutler Lab

Gene Symbol

Usp3

Ensembl Gene

ENSMUSG00000032376

Gene Name

ubiquitin specific peptidase 3

Synonyms

MMRRC Submission

040251-MU

Accession Numbers

Essential gene?

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

Stock #

R2251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66421919-66500424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66469860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 87 (D87G)

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

probably damaging
Transcript: ENSMUST00000098613
AA Change: D87G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: D87G

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: D87G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: D87G

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: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Abl1	T	A	2: 31,669,131 (GRCm39)	V170E	probably damaging	Het
Akap13	C	T	7: 75,389,225 (GRCm39)	T2381M	possibly damaging	Het
Armc8	T	A	9: 99,384,653 (GRCm39)		probably null	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cntn2	T	C	1: 132,453,059 (GRCm39)	E411G	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Fam186a	T	C	15: 99,842,978 (GRCm39)	T1089A	probably benign	Het
Fgb	T	G	3: 82,950,591 (GRCm39)	T388P	probably damaging	Het
Fndc1	G	A	17: 7,972,439 (GRCm39)	R1498W	probably damaging	Het
Gch1	T	C	14: 47,426,798 (GRCm39)		probably benign	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
H2-M10.1	A	C	17: 36,636,498 (GRCm39)	L102R	probably damaging	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
Mbtps2	A	T	X: 156,342,029 (GRCm39)	F270L	probably benign	Het
Mrpl40	T	C	16: 18,694,125 (GRCm39)	H29R	probably benign	Het
N4bp2	G	A	5: 65,964,071 (GRCm39)	V707I	probably damaging	Het
Nav2	A	G	7: 49,103,025 (GRCm39)	K608E	probably damaging	Het
Nfix	T	C	8: 85,442,799 (GRCm39)	D458G	probably benign	Het
Ngdn	T	C	14: 55,260,852 (GRCm39)		probably null	Het
Nr3c1	G	T	18: 39,619,804 (GRCm39)	T161K	probably benign	Het
Or2n1e	C	T	17: 38,585,794 (GRCm39)	A44V	probably benign	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or52e15	A	T	7: 104,645,802 (GRCm39)	M103K	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Pbld2	G	T	10: 62,860,384 (GRCm39)		probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Pwp2	T	A	10: 78,016,922 (GRCm39)	Q266L	probably benign	Het
Rnf133	T	C	6: 23,649,174 (GRCm39)	M252V	probably benign	Het
Scn8a	A	G	15: 100,914,987 (GRCm39)	I1184V	probably benign	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Smim11	T	C	16: 92,107,716 (GRCm39)	Y14H	probably benign	Het
Spata17	A	T	1: 186,780,670 (GRCm39)	L359Q	possibly damaging	Het
Spn	T	C	7: 126,736,331 (GRCm39)	K59E	probably benign	Het
Tap2	A	G	17: 34,430,928 (GRCm39)	S343G	probably damaging	Het
Tcp11l2	T	C	10: 84,440,933 (GRCm39)		probably null	Het
Tlr11	T	A	14: 50,598,249 (GRCm39)	N78K	probably benign	Het
Tm9sf2	T	A	14: 122,377,143 (GRCm39)	S224T	probably benign	Het
Trpm1	G	A	7: 63,859,724 (GRCm39)	G261D	probably damaging	Het
Tut4	T	A	4: 108,377,405 (GRCm39)	D938E	probably damaging	Het
Vmn1r189	T	C	13: 22,286,718 (GRCm39)	K40E	probably damaging	Het
Vps45	A	T	3: 95,964,352 (GRCm39)	D56E	probably benign	Het
Vstm2a	C	A	11: 16,318,273 (GRCm39)	Q231K	probably benign	Het
Zfp575	A	T	7: 24,285,015 (GRCm39)	C209S	probably damaging	Het
Zfp768	T	C	7: 126,943,550 (GRCm39)	T193A	probably benign	Het
Zfp867	T	A	11: 59,356,319 (GRCm39)	R38*	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
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'- GAGCCTGAAATGCTGAGTTG -3'
(R):5'- TGTCCCTAATCAAGGCGTAAC -3'

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

Posted On

2014-10-16