Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8689595-8792308 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 8698414 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133398 (fasta)

Gene Model

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

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173939

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: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,515,826	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,684,027	V543A	probably benign	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp5c1	A	G	2: 10,063,476	F180S	probably damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Ccnf	C	A	17: 24,231,786	R406L	probably damaging	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Cpox	G	T	16: 58,670,687	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,994,891	T136A	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Ehmt2	C	A	17: 34,913,814	N1171K	probably damaging	Het
Fanci	T	A	7: 79,435,256	M838K	possibly damaging	Het
Flot1	T	C	17: 35,832,544		probably benign	Het
Gad2	A	T	2: 22,668,362	D364V	probably damaging	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,145,291	C261Y	probably damaging	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kalrn	G	T	16: 34,176,391	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,194,064	H15N	probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Lsm2	T	A	17: 34,985,595		probably benign	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,911,832		probably benign	Het
Ncapg2	T	A	12: 116,425,787	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070	Y187F	probably damaging	Het
Nomo1	T	A	7: 46,068,442	I799N	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr430	A	G	1: 174,069,828	I177V	possibly damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Olfr849	T	A	9: 19,441,295	C127*	probably null	Het
Pgm3	T	A	9: 86,558,470	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
Rrnad1	T	C	3: 87,927,672	H107R	probably benign	Het
Sdr42e1	T	C	8: 117,663,621	T94A	probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Shisa3	A	G	5: 67,608,649	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc5a3	T	A	16: 92,077,202	V49E	probably benign	Het
Slc9c1	A	T	16: 45,547,393	*163L	probably null	Het
Smyd3	A	G	1: 179,043,741	Y358H	probably benign	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Syne2	A	G	12: 75,989,239	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,375,425	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Unc45a	T	C	7: 80,333,029	K383E	possibly damaging	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Wiz	C	T	17: 32,357,681	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	Het

Other mutations in Usp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Usp7	APN	16	8697975	missense	probably damaging	0.96
IGL00496:Usp7	APN	16	8695113	missense	probably damaging	0.99
IGL02113:Usp7	APN	16	8716513	critical splice donor site	probably null
IGL02873:Usp7	APN	16	8695194	unclassified	probably benign
IGL03036:Usp7	APN	16	8738214	missense	probably benign	0.00
PIT4402001:Usp7	UTSW	16	8698495	missense	probably benign
R0066:Usp7	UTSW	16	8691418	missense	probably benign
R0400:Usp7	UTSW	16	8716632	splice site	probably benign
R0483:Usp7	UTSW	16	8699262	missense	probably damaging	1.00
R0625:Usp7	UTSW	16	8704982	missense	probably benign	0.00
R0626:Usp7	UTSW	16	8693914	missense	possibly damaging	0.54
R0837:Usp7	UTSW	16	8703502	missense	probably damaging	1.00
R0967:Usp7	UTSW	16	8696654	unclassified	probably benign
R1929:Usp7	UTSW	16	8698469	missense	probably benign	0.00
R2270:Usp7	UTSW	16	8698469	missense	probably benign	0.00
R2271:Usp7	UTSW	16	8698469	missense	probably benign	0.00
R2272:Usp7	UTSW	16	8698469	missense	probably benign	0.00
R3949:Usp7	UTSW	16	8716564	missense	probably damaging	1.00
R4411:Usp7	UTSW	16	8708914	missense	probably damaging	1.00
R4413:Usp7	UTSW	16	8708914	missense	probably damaging	1.00
R4500:Usp7	UTSW	16	8695895	missense	possibly damaging	0.89
R4852:Usp7	UTSW	16	8756844	nonsense	probably null
R5483:Usp7	UTSW	16	8698540	missense	probably benign
R5610:Usp7	UTSW	16	8716510	splice site	probably null
R5734:Usp7	UTSW	16	8701981	missense	possibly damaging	0.91
R5964:Usp7	UTSW	16	8712102	missense	possibly damaging	0.52
R6753:Usp7	UTSW	16	8696911	missense	probably benign	0.25
R7171:Usp7	UTSW	16	8716526	missense	probably benign	0.01
R7263:Usp7	UTSW	16	8696724	missense	possibly damaging	0.89
R7420:Usp7	UTSW	16	8710121	missense	probably benign
R7654:Usp7	UTSW	16	8702043	missense	probably benign	0.33
R7789:Usp7	UTSW	16	8698811	missense	probably benign
R7808:Usp7	UTSW	16	8705163	missense	probably damaging	1.00
R8080:Usp7	UTSW	16	8697907	missense	probably benign	0.42
R8353:Usp7	UTSW	16	8695871	missense	probably benign	0.01
R8502:Usp7	UTSW	16	8695029	critical splice donor site	probably null
R8548:Usp7	UTSW	16	8712075	missense	possibly damaging	0.89

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