Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Usp7'

57548

Institutional Source

Beutler Lab

Gene Symbol

Usp7

Ensembl Gene

ENSMUSG00000022710

Gene Name

ubiquitin specific peptidase 7

Synonyms

2210010O09Rik

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8506586-8574931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8511778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 867 (Q867K)

Ref Sequence

ENSEMBL: ENSMUSP00000124093 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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
AA Change: Q907K

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: Q907K

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

possibly damaging
Transcript: ENSMUST00000161046
AA Change: Q867K

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: Q867K

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	probably damaging	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
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'- CCATATGCCCCGACTGAGGAAATAC -3'
(R):5'- TAGGTAGGCACACGGCTTTCAGAC -3'

Sequencing Primer
(F):5'- TAGACAGAAATGCTTACCTCTTCC -3'
(R):5'- ACGGCTTTCAGACAGTGC -3'

Posted On

2013-07-11