Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Usp7'

599765

Institutional Source

Beutler Lab

Gene Symbol

Usp7

Ensembl Gene

ENSMUSG00000022710

Gene Name

ubiquitin specific peptidase 7

Synonyms

2210010O09Rik

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8689595-8792308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8698811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 539 (Q539L)

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 benign
Transcript: ENSMUST00000160405
AA Change: Q579L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: Q579L

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
AA Change: Q539L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: Q539L

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 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	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
R4651:Usp7	UTSW	16	8698414	intron	probably benign
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
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
R9322:Usp7	UTSW	16	8699260	missense	probably damaging	0.97
R9438:Usp7	UTSW	16	8704969	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTATCTGAAGGCATAGAAAGCTGAG -3'
(R):5'- CAAGCTGTGCTACGCTTGTG -3'

Sequencing Primer
(F):5'- GCTGAGCTTACAACCACTCAG -3'
(R):5'- TGCTACGCTTGTGGGCTCC -3'

Posted On

2019-11-26