Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Usp7'

600974

Institutional Source

Beutler Lab

Gene Symbol

Usp7

Ensembl Gene

ENSMUSG00000022710

Gene Name

ubiquitin specific peptidase 7

Synonyms

2210010O09Rik

MMRRC Submission

045863-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8506586-8574931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8523027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 311 (K311E)

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

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: K351E

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

SMART Domains

Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: K351E

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: K311E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: K311E

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

probably damaging
Transcript: ENSMUST00000172505
AA Change: K70E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133398
Gene: ENSMUSG00000022710
AA Change: K70E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Card6	T	C	15: 5,128,954 (GRCm39)	H814R	probably benign	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clasrp	C	T	7: 19,322,671 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,583,093 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Mbnl1	G	A	3: 60,522,242 (GRCm39)		probably null	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Tfcp2	A	G	15: 100,420,310 (GRCm39)	F175S	probably damaging	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	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
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
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'- ACGGTAGTCTACGTCTTTGCAC -3'
(R):5'- AGGTTAACCTCAACTATTGCATGG -3'

Sequencing Primer
(F):5'- CGTCTTTGCACTGAATATAGGACTG -3'
(R):5'- GGCATTTCCAAGTAAAGTGT -3'

Posted On

2019-11-26