Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Usp3'

365977

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp3

Ensembl Gene

ENSMUSG00000032376

Gene Name

ubiquitin specific peptidase 3

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

66421919-66500424 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 66449832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 160 (R160*)

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

noncoding transcript
Transcript: ENSMUST00000124519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124694

Predicted Effect

probably null
Transcript: ENSMUST00000127569
AA Change: R204*

SMART Domains

Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: R204*

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

probably null
Transcript: ENSMUST00000174387
AA Change: R160*

SMART Domains

Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: R160*

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Elfn2	T	C	15: 78,556,082 (GRCm39)	K822E	probably damaging	Het
Eps15l1	G	A	8: 73,112,240 (GRCm39)	S764L	probably benign	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Faap24	C	A	7: 35,092,376 (GRCm39)	K180N	probably damaging	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,425,200 (GRCm39)		probably benign	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Or4k42	T	G	2: 111,320,465 (GRCm39)	I13L	probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	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
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
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

Posted On

2015-12-18