Mutagenetix > Incidental Mutations

Incidental Mutation 'R2273:Usp1'

242633

Institutional Source

Beutler Lab

Gene Symbol

Usp1

Ensembl Gene

ENSMUSG00000028560

Gene Name

ubiquitin specific peptidase 1

Synonyms

MMRRC Submission

040273-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98923810-98935543 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98929842 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 139 (L139P)

Ref Sequence

ENSEMBL: ENSMUSP00000135496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030289] [ENSMUST00000091358] [ENSMUST00000125104] [ENSMUST00000169053]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030289
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030289
Gene: ENSMUSG00000028560
AA Change: L182P

Domain	Start	End	E-Value	Type
Pfam:UCH	80	616	9.2e-35	PFAM
Pfam:UCH_1	415	618	1.3e-11	PFAM
Pfam:UCH	723	781	3.9e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091358
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088917
Gene: ENSMUSG00000028560
AA Change: L182P

Domain	Start	End	E-Value	Type
Pfam:UCH	80	622	5e-39	PFAM
Pfam:UCH_1	346	613	2.8e-11	PFAM
low complexity region	765	779	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125104
AA Change: L139P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135496
Gene: ENSMUSG00000028560
AA Change: L139P

Domain	Start	End	E-Value	Type
Pfam:UCH	37	150	4.1e-14	PFAM
Pfam:UCH_1	38	80	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169053

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ubiquitin-specific peptidase family. The encoded protein acts as a catalytic subunit in a heterodimeric deubiquitinating enzyme complex that deubiquitinates Fanconi anemia, complementation group D2, and plays a role in homologous recombination-mediated DNA repair. Disruption of this gene is associated with a Fanconi anemia-like phenotype and genomic instability. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 3, 12, and 15. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Ank3	T	A	10: 69,950,942		probably null	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atp11b	A	G	3: 35,828,613	I606V	probably benign	Het
Atp6v1h	T	A	1: 5,117,476	D222E	probably damaging	Het
Bco1	G	A	8: 117,108,783		probably null	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,157,547	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,167	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Cfh	C	T	1: 140,102,825	V824M	probably damaging	Het
Ciapin1	A	T	8: 94,831,787	V99E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 132,059,852		probably benign	Het
Crim1	T	C	17: 78,355,179		probably null	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Fat3	T	C	9: 15,915,262	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,772,021	E428G	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hivep2	T	C	10: 14,132,443	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Ift88	A	G	14: 57,488,936	K684E	possibly damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,427,802	N343D	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,608,143	D840E	probably damaging	Het
Lrrc7	A	G	3: 158,187,059	S318P	probably damaging	Het
Map1b	A	C	13: 99,432,084	D1376E	unknown	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mier2	T	C	10: 79,544,534	I321V	probably damaging	Het
Mrc1	G	A	2: 14,325,372	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Olfr314	T	C	11: 58,786,666	V144A	probably benign	Het
Olfr781	T	C	10: 129,333,457	I192T	probably benign	Het
Olfr998	G	T	2: 85,590,588	G16V	probably damaging	Het
Pcdhb4	C	T	18: 37,308,926	L430F	probably damaging	Het
Ptpn2	T	G	18: 67,677,802	M256L	probably damaging	Het
Rph3a	C	T	5: 120,973,304	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,051	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Sult1d1	T	G	5: 87,556,028	N266T	probably damaging	Het
Tjp2	G	T	19: 24,112,807	H624N	probably benign	Het
Tmcc3	G	A	10: 94,578,915	V160I	probably damaging	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Vldlr	A	T	19: 27,248,015	T859S	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,257,331	M273L	probably benign	Het
Zc3h6	T	C	2: 129,014,709	Y570H	probably benign	Het
Zhx2	A	G	15: 57,823,169	S645G	probably benign	Het

Other mutations in Usp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Usp1	APN	4	98934581	unclassified	probably null
IGL02692:Usp1	APN	4	98928960	missense	probably benign	0.00
R1782:Usp1	UTSW	4	98934198	missense	probably damaging	1.00
R1991:Usp1	UTSW	4	98934294	missense	probably benign	0.00
R1992:Usp1	UTSW	4	98934294	missense	probably benign	0.00
R2274:Usp1	UTSW	4	98929842	missense	probably damaging	1.00
R2275:Usp1	UTSW	4	98929842	missense	probably damaging	1.00
R3750:Usp1	UTSW	4	98934120	unclassified	probably null
R3886:Usp1	UTSW	4	98929736	missense	probably damaging	1.00
R4014:Usp1	UTSW	4	98934702	missense	probably damaging	1.00
R5141:Usp1	UTSW	4	98934209	missense	probably damaging	1.00
R5304:Usp1	UTSW	4	98934618	missense	probably benign
R5388:Usp1	UTSW	4	98931057	missense	probably benign
R5709:Usp1	UTSW	4	98931123	missense	probably damaging	0.99
R6035:Usp1	UTSW	4	98929845	missense	probably damaging	1.00
R6035:Usp1	UTSW	4	98929845	missense	probably damaging	1.00
R6592:Usp1	UTSW	4	98926519	missense	possibly damaging	0.86
R6956:Usp1	UTSW	4	98931006	missense	probably damaging	0.96
R7117:Usp1	UTSW	4	98928890	missense	possibly damaging	0.59
R7396:Usp1	UTSW	4	98926451	intron	probably benign
R7516:Usp1	UTSW	4	98934119	missense	probably damaging	1.00
R7590:Usp1	UTSW	4	98934252	missense	possibly damaging	0.67
R7828:Usp1	UTSW	4	98932307	missense	probably damaging	1.00
R8050:Usp1	UTSW	4	98928913	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTGCTGTGAGACCAAGAAG -3'
(R):5'- GCATGAGTCTTTCGACAGAAAATG -3'

Sequencing Primer
(F):5'- AGAAGGAAAGAGGCACTTATTTAATG -3'
(R):5'- CTATGAGATGGGGCTTCAA -3'

Posted On

2014-10-16