Mutagenetix > Incidental Mutation

Incidental Mutation 'R4651:Usp7'

351328

Institutional Source

Beutler Lab

Gene Symbol

Usp7

Ensembl Gene

ENSMUSG00000022710

Gene Name

ubiquitin specific peptidase 7

Synonyms

2210010O09Rik

MMRRC Submission

041911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8506586-8574931 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 8516278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160326] [ENSMUST00000160405] [ENSMUST00000161046] [ENSMUST00000172505]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159387

Predicted Effect

probably benign
Transcript: ENSMUST00000160326

SMART Domains

Protein: ENSMUSP00000124576
Gene: ENSMUSG00000022710

Domain	Start	End	E-Value	Type
PDB:2F1Z\|B	43	83	2e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000160405

SMART Domains

Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
MATH	111	217	4.27e-22	SMART
Pfam:UCH	254	559	5.7e-53	PFAM
Pfam:UCH_1	255	528	3.7e-22	PFAM
Pfam:USP7_ICP0_bdg	661	906	7.1e-79	PFAM
Pfam:USP7_C2	916	1127	4.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161046

SMART Domains

Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710

Domain	Start	End	E-Value	Type
MATH	71	177	4.27e-22	SMART
Pfam:UCH	214	519	9.6e-60	PFAM
Pfam:UCH_1	215	488	5.1e-29	PFAM
Pfam:USP7_ICP0_bdg	620	866	5e-83	PFAM
Pfam:USP7_C2	875	1089	2.7e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173939

Predicted Effect

probably benign
Transcript: ENSMUST00000172505

SMART Domains

Protein: ENSMUSP00000133398
Gene: ENSMUSG00000022710

Domain	Start	End	E-Value	Type
Pfam:UCH_1	5	247	1.7e-18	PFAM
Pfam:UCH	5	278	2.8e-47	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,492,787 (GRCm39)	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,591,343 (GRCm39)	V543A	probably benign	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp5f1c	A	G	2: 10,068,287 (GRCm39)	F180S	probably damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Ccnf	C	A	17: 24,450,760 (GRCm39)	R406L	probably damaging	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Cpox	G	T	16: 58,491,050 (GRCm39)	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,931,701 (GRCm39)	T136A	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Ehmt2	C	A	17: 35,132,790 (GRCm39)	N1171K	probably damaging	Het
Fanci	T	A	7: 79,085,004 (GRCm39)	M838K	possibly damaging	Het
Flot1	T	C	17: 36,143,436 (GRCm39)		probably benign	Het
Gad2	A	T	2: 22,558,374 (GRCm39)	D364V	probably damaging	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,364,265 (GRCm39)	C261Y	probably damaging	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kalrn	G	T	16: 33,996,761 (GRCm39)	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,084,076 (GRCm39)	H15N	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Lsm2	T	A	17: 35,204,571 (GRCm39)		probably benign	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25b	T	C	3: 87,834,979 (GRCm39)	H107R	probably benign	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,753,752 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,389,407 (GRCm39)	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070 (GRCm39)	Y187F	probably damaging	Het
Nomo1	T	A	7: 45,717,866 (GRCm39)	I799N	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Or6n2	A	G	1: 173,897,394 (GRCm39)	I177V	possibly damaging	Het
Or7g30	T	A	9: 19,352,591 (GRCm39)	C127*	probably null	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
Sdr42e1	T	C	8: 118,390,360 (GRCm39)	T94A	probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Shisa3	A	G	5: 67,765,992 (GRCm39)	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc5a3	T	A	16: 91,874,090 (GRCm39)	V49E	probably benign	Het
Slc9c1	A	T	16: 45,367,756 (GRCm39)	*163L	probably null	Het
Smyd3	A	G	1: 178,871,306 (GRCm39)	Y358H	probably benign	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Syne2	A	G	12: 76,036,013 (GRCm39)	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,024,633 (GRCm39)	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Unc45a	T	C	7: 79,982,777 (GRCm39)	K383E	possibly damaging	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Wiz	C	T	17: 32,576,655 (GRCm39)	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Usp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Usp7	APN	16	8,515,839 (GRCm39)	missense	probably damaging	0.96
IGL00496:Usp7	APN	16	8,512,977 (GRCm39)	missense	probably damaging	0.99
IGL02113:Usp7	APN	16	8,534,377 (GRCm39)	critical splice donor site	probably null
IGL02873:Usp7	APN	16	8,513,058 (GRCm39)	unclassified	probably benign
IGL03036:Usp7	APN	16	8,556,078 (GRCm39)	missense	probably benign	0.00
PIT4402001:Usp7	UTSW	16	8,516,359 (GRCm39)	missense	probably benign
R0066:Usp7	UTSW	16	8,509,282 (GRCm39)	missense	probably benign
R0400:Usp7	UTSW	16	8,534,496 (GRCm39)	splice site	probably benign
R0483:Usp7	UTSW	16	8,517,126 (GRCm39)	missense	probably damaging	1.00
R0625:Usp7	UTSW	16	8,522,846 (GRCm39)	missense	probably benign	0.00
R0626:Usp7	UTSW	16	8,511,778 (GRCm39)	missense	possibly damaging	0.54
R0837:Usp7	UTSW	16	8,521,366 (GRCm39)	missense	probably damaging	1.00
R0967:Usp7	UTSW	16	8,514,518 (GRCm39)	unclassified	probably benign
R1929:Usp7	UTSW	16	8,516,333 (GRCm39)	missense	probably benign	0.00
R2270:Usp7	UTSW	16	8,516,333 (GRCm39)	missense	probably benign	0.00
R2271:Usp7	UTSW	16	8,516,333 (GRCm39)	missense	probably benign	0.00
R2272:Usp7	UTSW	16	8,516,333 (GRCm39)	missense	probably benign	0.00
R3949:Usp7	UTSW	16	8,534,428 (GRCm39)	missense	probably damaging	1.00
R4411:Usp7	UTSW	16	8,526,778 (GRCm39)	missense	probably damaging	1.00
R4413:Usp7	UTSW	16	8,526,778 (GRCm39)	missense	probably damaging	1.00
R4500:Usp7	UTSW	16	8,513,759 (GRCm39)	missense	possibly damaging	0.89
R4852:Usp7	UTSW	16	8,574,708 (GRCm39)	nonsense	probably null
R5483:Usp7	UTSW	16	8,516,404 (GRCm39)	missense	probably benign
R5610:Usp7	UTSW	16	8,534,374 (GRCm39)	splice site	probably null
R5734:Usp7	UTSW	16	8,519,845 (GRCm39)	missense	possibly damaging	0.91
R5964:Usp7	UTSW	16	8,529,966 (GRCm39)	missense	possibly damaging	0.52
R6753:Usp7	UTSW	16	8,514,775 (GRCm39)	missense	probably benign	0.25
R7171:Usp7	UTSW	16	8,534,390 (GRCm39)	missense	probably benign	0.01
R7263:Usp7	UTSW	16	8,514,588 (GRCm39)	missense	possibly damaging	0.89
R7420:Usp7	UTSW	16	8,527,985 (GRCm39)	missense	probably benign
R7654:Usp7	UTSW	16	8,519,907 (GRCm39)	missense	probably benign	0.33
R7789:Usp7	UTSW	16	8,516,675 (GRCm39)	missense	probably benign
R7808:Usp7	UTSW	16	8,523,027 (GRCm39)	missense	probably damaging	1.00
R8080:Usp7	UTSW	16	8,515,771 (GRCm39)	missense	probably benign	0.42
R8353:Usp7	UTSW	16	8,513,735 (GRCm39)	missense	probably benign	0.01
R8502:Usp7	UTSW	16	8,512,893 (GRCm39)	critical splice donor site	probably null
R8548:Usp7	UTSW	16	8,529,939 (GRCm39)	missense	possibly damaging	0.89
R9322:Usp7	UTSW	16	8,517,124 (GRCm39)	missense	probably damaging	0.97
R9438:Usp7	UTSW	16	8,522,833 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AGAACAGGAGCAATCAGTCC -3'
(R):5'- TGAGTGGTTGTAAGCTCAGC -3'

Sequencing Primer
(F):5'- GGAGCAATCAGTCCCCACAAG -3'
(R):5'- TATGCCTTCAGATAGTTGCAGAGGAC -3'

Posted On

2015-10-08