Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Usp7'

42155

Institutional Source

Beutler Lab

Gene Symbol

Usp7

Ensembl Gene

ENSMUSG00000022710

Gene Name

ubiquitin specific peptidase 7

Synonyms

2210010O09Rik

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0483 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

8506586-8574931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8517126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

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: ENSMUST00000159287

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 damaging
Transcript: ENSMUST00000160405
AA Change: V526A

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

SMART Domains

Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: V526A

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 damaging
Transcript: ENSMUST00000161046
AA Change: V486A

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

SMART Domains

Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: V486A

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

probably damaging
Transcript: ENSMUST00000172505
AA Change: V245A

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

SMART Domains

Protein: ENSMUSP00000133398
Gene: ENSMUSG00000022710
AA Change: V245A

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: ENSMUST00000162929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173939

Meta Mutation Damage Score

0.9184

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Acrbp	C	A	6: 125,031,759 (GRCm39)	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Ces1d	C	A	8: 93,924,307 (GRCm39)	C14F	probably benign	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Cyp27b1	A	C	10: 126,886,026 (GRCm39)	M260L	probably benign	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Phc2	A	G	4: 128,617,100 (GRCm39)		probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		probably benign	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
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
R4651:Usp7	UTSW	16	8,516,278 (GRCm39)	intron	probably benign
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'- TGTGGGCAGGCAACAAAGCATC -3'
(R):5'- ATGAAGGCTGAGTGTGGTACTCCG -3'

Sequencing Primer
(F):5'- GTACTGTATTATACAGACAGGAAGCC -3'
(R):5'- GCCTGTTAATTCTCCAAAGGG -3'

Posted On

2013-05-23