Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Usp1'

573801

Institutional Source

Beutler Lab

Gene Symbol

Usp1

Ensembl Gene

ENSMUSG00000028560

Gene Name

ubiquitin specific peptidase 1

Synonyms

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R7396 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

98812047-98823780 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 98814688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130307 (fasta)

Gene Model

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

AlphaFold

Q8BJQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000030289

SMART Domains

Protein: ENSMUSP00000030289
Gene: ENSMUSG00000028560

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 benign
Transcript: ENSMUST00000091358

SMART Domains

Protein: ENSMUSP00000088917
Gene: ENSMUSG00000028560

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 benign
Transcript: ENSMUST00000125104

SMART Domains

Protein: ENSMUSP00000135496
Gene: ENSMUSG00000028560

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	Het

Other mutations in Usp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Usp1	APN	4	98,822,818 (GRCm39)	splice site	probably null
IGL02692:Usp1	APN	4	98,817,197 (GRCm39)	missense	probably benign	0.00
R1782:Usp1	UTSW	4	98,822,435 (GRCm39)	missense	probably damaging	1.00
R1991:Usp1	UTSW	4	98,822,531 (GRCm39)	missense	probably benign	0.00
R1992:Usp1	UTSW	4	98,822,531 (GRCm39)	missense	probably benign	0.00
R2273:Usp1	UTSW	4	98,818,079 (GRCm39)	missense	probably damaging	1.00
R2274:Usp1	UTSW	4	98,818,079 (GRCm39)	missense	probably damaging	1.00
R2275:Usp1	UTSW	4	98,818,079 (GRCm39)	missense	probably damaging	1.00
R3750:Usp1	UTSW	4	98,822,357 (GRCm39)	splice site	probably null
R3886:Usp1	UTSW	4	98,817,973 (GRCm39)	missense	probably damaging	1.00
R4014:Usp1	UTSW	4	98,822,939 (GRCm39)	missense	probably damaging	1.00
R5141:Usp1	UTSW	4	98,822,446 (GRCm39)	missense	probably damaging	1.00
R5304:Usp1	UTSW	4	98,822,855 (GRCm39)	missense	probably benign
R5388:Usp1	UTSW	4	98,819,294 (GRCm39)	missense	probably benign
R5709:Usp1	UTSW	4	98,819,360 (GRCm39)	missense	probably damaging	0.99
R6035:Usp1	UTSW	4	98,818,082 (GRCm39)	missense	probably damaging	1.00
R6035:Usp1	UTSW	4	98,818,082 (GRCm39)	missense	probably damaging	1.00
R6592:Usp1	UTSW	4	98,814,756 (GRCm39)	missense	possibly damaging	0.86
R6956:Usp1	UTSW	4	98,819,243 (GRCm39)	missense	probably damaging	0.96
R7117:Usp1	UTSW	4	98,817,127 (GRCm39)	missense	possibly damaging	0.59
R7516:Usp1	UTSW	4	98,822,356 (GRCm39)	missense	probably damaging	1.00
R7590:Usp1	UTSW	4	98,822,489 (GRCm39)	missense	possibly damaging	0.67
R7828:Usp1	UTSW	4	98,820,544 (GRCm39)	missense	probably damaging	1.00
R8050:Usp1	UTSW	4	98,817,150 (GRCm39)	missense	probably benign	0.10
R8085:Usp1	UTSW	4	98,816,578 (GRCm39)	missense	probably damaging	1.00
R8298:Usp1	UTSW	4	98,819,136 (GRCm39)	missense	probably damaging	1.00
R8736:Usp1	UTSW	4	98,821,105 (GRCm39)	missense	probably damaging	1.00
R8801:Usp1	UTSW	4	98,822,848 (GRCm39)	missense	probably benign
R8844:Usp1	UTSW	4	98,823,017 (GRCm39)	missense	probably damaging	1.00
R8887:Usp1	UTSW	4	98,819,185 (GRCm39)	missense	probably benign	0.43
R8899:Usp1	UTSW	4	98,819,347 (GRCm39)	missense	probably damaging	1.00
R9063:Usp1	UTSW	4	98,819,389 (GRCm39)	missense	probably benign	0.00
R9275:Usp1	UTSW	4	98,819,578 (GRCm39)	missense	probably damaging	0.98
R9738:Usp1	UTSW	4	98,819,672 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAATTTTAAAGGAAGTTTGTGCGGG -3'
(R):5'- CTTGAGAATCAGTAAAGTCTAAGGC -3'

Sequencing Primer
(F):5'- GGTTCTCCACCTGTGAGTCAAGAC -3'
(R):5'- AAAGTCTAAGGCTCTTTTAGTTTCC -3'

Posted On

2019-09-13