Mutagenetix > Incidental Mutation

Incidental Mutation 'R8085:Usp1'

629575

Institutional Source

Beutler Lab

Gene Symbol

Usp1

Ensembl Gene

ENSMUSG00000028560

Gene Name

ubiquitin specific peptidase 1

Synonyms

MMRRC Submission

067518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R8085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98812047-98823780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98816578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 93 (N93I)

Ref Sequence

ENSEMBL: ENSMUSP00000030289 (fasta)

Gene Model

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

AlphaFold

Q8BJQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030289
AA Change: N93I

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

SMART Domains

Protein: ENSMUSP00000030289
Gene: ENSMUSG00000028560
AA Change: N93I

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: N93I

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

SMART Domains

Protein: ENSMUSP00000088917
Gene: ENSMUSG00000028560
AA Change: N93I

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: N50I

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

SMART Domains

Protein: ENSMUSP00000135496
Gene: ENSMUSG00000028560
AA Change: N50I

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: 99.9%
3x: 99.7%
10x: 98.9%
20x: 96.0%

Validation Efficiency

99% (81/82)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	G	T	9: 30,854,611 (GRCm39)	R160L	probably benign	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
AW146154	C	T	7: 41,130,621 (GRCm39)	G165D	possibly damaging	Het
AW146154	C	A	7: 41,130,622 (GRCm39)	G165C	probably damaging	Het
Cachd1	G	A	4: 100,845,361 (GRCm39)	G951D	probably damaging	Het
Clstn3	T	C	6: 124,435,683 (GRCm39)	N250D	probably benign	Het
Coch	G	C	12: 51,650,031 (GRCm39)	G340A	possibly damaging	Het
Col18a1	A	G	10: 76,924,741 (GRCm39)	V226A	unknown	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Dgkh	A	T	14: 78,824,558 (GRCm39)		probably null	Het
Disp2	C	T	2: 118,617,452 (GRCm39)	L149F	possibly damaging	Het
Dpt	T	C	1: 164,650,756 (GRCm39)	F186S	probably damaging	Het
Eif3l	T	G	15: 78,961,066 (GRCm39)	Y40D	probably damaging	Het
Epha3	A	C	16: 63,403,873 (GRCm39)	Y743D	probably damaging	Het
Ercc6l2	A	T	13: 63,992,367 (GRCm39)	Y272F	probably benign	Het
Exoc2	G	A	13: 31,124,686 (GRCm39)	L9F	probably damaging	Het
Fkbp9	A	G	6: 56,833,289 (GRCm39)	T259A	probably benign	Het
Gm5622	A	T	14: 51,895,201 (GRCm39)	K120M	probably damaging	Het
Hectd1	A	T	12: 51,795,679 (GRCm39)	F2250Y	probably damaging	Het
Herc2	A	G	7: 55,879,427 (GRCm39)	I4682V	probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Kctd1	T	A	18: 15,140,901 (GRCm39)	I610F	possibly damaging	Het
Kif5a	A	T	10: 127,075,178 (GRCm39)	D478E	probably benign	Het
Klf13	G	T	7: 63,541,497 (GRCm39)	A210E	probably damaging	Het
Klhl20	C	A	1: 160,921,354 (GRCm39)	G543C	probably damaging	Het
Krt78	T	C	15: 101,855,715 (GRCm39)	T699A	possibly damaging	Het
Lgr5	A	T	10: 115,311,102 (GRCm39)	D231E	probably benign	Het
Lonrf1	C	A	8: 36,715,769 (GRCm39)	G289W	probably damaging	Het
Lyst	T	C	13: 13,808,894 (GRCm39)	L188P	probably damaging	Het
Mab21l2	T	C	3: 86,455,393 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,303,875 (GRCm39)	V209A	possibly damaging	Het
Mctp1	A	C	13: 76,972,972 (GRCm39)	R658S	probably benign	Het
Mdfi	T	C	17: 48,127,042 (GRCm39)	T178A	probably damaging	Het
Msln	T	A	17: 25,971,942 (GRCm39)	K92*	probably null	Het
Msx3	T	C	7: 139,627,998 (GRCm39)	H113R	unknown	Het
Muc6	T	A	7: 141,226,729 (GRCm39)	T1433S	unknown	Het
Musk	T	A	4: 58,373,110 (GRCm39)	S693R	probably benign	Het
Myh13	A	G	11: 67,225,613 (GRCm39)	K296R	probably benign	Het
Mylip	A	T	13: 45,563,928 (GRCm39)	H427L	possibly damaging	Het
Nradd	G	T	9: 110,451,179 (GRCm39)	T63K	possibly damaging	Het
Ntaq1	T	G	15: 58,015,983 (GRCm39)		probably null	Het
Or5h17	A	G	16: 58,820,432 (GRCm39)	N128S	probably benign	Het
Or5p66	G	T	7: 107,885,620 (GRCm39)	Q238K	probably benign	Het
Osbp2	A	G	11: 3,662,521 (GRCm39)	L187P	probably damaging	Het
Oxct1	A	G	15: 4,158,350 (GRCm39)	D428G	probably damaging	Het
Oxsm	G	T	14: 16,242,439 (GRCm38)	S110*	probably null	Het
Pard6a	A	G	8: 106,429,642 (GRCm39)	Q230R	probably damaging	Het
Pkhd1	C	A	1: 20,683,639 (GRCm39)	W38L	probably damaging	Het
Plekhh2	A	G	17: 84,905,384 (GRCm39)	N1093D	probably damaging	Het
Rttn	C	T	18: 89,071,672 (GRCm39)	Q1240*	probably null	Het
Serpina1d	T	C	12: 103,730,087 (GRCm39)	E365G	probably damaging	Het
Sis	A	T	3: 72,814,462 (GRCm39)	H1589Q	probably damaging	Het
Slc40a1	A	T	1: 45,957,528 (GRCm39)	I152N	probably damaging	Het
Slc44a5	C	T	3: 153,928,414 (GRCm39)	P59S	probably damaging	Het
Smarca4	T	A	9: 21,570,108 (GRCm39)		probably null	Het
Smim33	A	T	18: 35,861,573 (GRCm39)	D19V	probably benign	Het
Spag9	A	G	11: 93,989,870 (GRCm39)	Y930C	probably benign	Het
Speg	A	G	1: 75,391,997 (GRCm39)	E1593G	probably damaging	Het
St3gal5	G	T	6: 72,074,925 (GRCm39)	A62S	unknown	Het
Stx1a	T	C	5: 135,066,431 (GRCm39)		probably null	Het
Syne1	T	A	10: 5,178,021 (GRCm39)	I4818F	possibly damaging	Het
Tango6	A	G	8: 107,447,366 (GRCm39)	H588R	probably benign	Het
Tapt1	T	C	5: 44,336,307 (GRCm39)	Y454C	probably damaging	Het
Tep1	A	G	14: 51,066,753 (GRCm39)	Y2282H	probably benign	Het
Tle6	A	T	10: 81,431,792 (GRCm39)	W151R	probably damaging	Het
Tmem131l	A	T	3: 83,834,438 (GRCm39)	M715K	possibly damaging	Het
Ubr1	T	A	2: 120,764,898 (GRCm39)	R519*	probably null	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Vmn1r238	A	G	18: 3,123,151 (GRCm39)	Y88H	probably damaging	Het
Vmn2r62	A	G	7: 42,437,270 (GRCm39)	Y405H	probably damaging	Het
Vmn2r78	A	G	7: 86,603,998 (GRCm39)	I725M	probably benign	Het
Zfp12	C	T	5: 143,230,681 (GRCm39)	T368M	probably damaging	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
R7396:Usp1	UTSW	4	98,814,688 (GRCm39)	intron	probably benign
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
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'- TCAGGGTTGGGTATAAAGCTC -3'
(R):5'- TAGGACATAGTACCAGGAATCAAGC -3'

Sequencing Primer
(F):5'- GGTTGGGTATAAAGCTCAATGATC -3'
(R):5'- AAAGTTTGGCTTTGGCTTCTTCC -3'

Posted On

2020-06-30