Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Usp10'

716448

Institutional Source

Beutler Lab

Gene Symbol

Usp10

Ensembl Gene

ENSMUSG00000031826

Gene Name

ubiquitin specific peptidase 10

Synonyms

Uchrp, 2610014N07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119910360-119957560 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119948765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 508 (S508P)

Ref Sequence

ENSEMBL: ENSMUSP00000123590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108982] [ENSMUST00000108988] [ENSMUST00000127664] [ENSMUST00000144458]

AlphaFold

P52479

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108982
AA Change: S71P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:UCH	9	113	1.6e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108988
AA Change: S507P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: S507P

Domain	Start	End	E-Value	Type
low complexity region	117	131	N/A	INTRINSIC
low complexity region	147	155	N/A	INTRINSIC
Pfam:UCH	408	786	9.3e-48	PFAM
Pfam:UCH_1	409	764	4.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134729

SMART Domains

Protein: ENSMUSP00000134182
Gene: ENSMUSG00000031826

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144458
AA Change: S508P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: S508P

Domain	Start	End	E-Value	Type
Pfam:PAM2	78	95	1.1e-7	PFAM
low complexity region	118	132	N/A	INTRINSIC
low complexity region	148	156	N/A	INTRINSIC
Pfam:UCH	409	787	1.2e-44	PFAM
Pfam:UCH_1	410	765	4.2e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Evl	T	A	12: 108,686,457	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly damaging	Het

Other mutations in Usp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02000:Usp10	APN	8	119948741	missense	possibly damaging	0.95
IGL02444:Usp10	APN	8	119948693	missense	possibly damaging	0.70
IGL02487:Usp10	APN	8	119948775	missense	probably damaging	1.00
IGL02526:Usp10	APN	8	119948775	missense	probably damaging	1.00
IGL02951:Usp10	APN	8	119947086	missense	probably benign	0.01
IGL03003:Usp10	APN	8	119954810	missense	possibly damaging	0.90
IGL03049:Usp10	APN	8	119956627	missense	probably benign	0.01
PIT4585001:Usp10	UTSW	8	119954892	missense	probably benign	0.02
R0090:Usp10	UTSW	8	119953196	nonsense	probably null
R0329:Usp10	UTSW	8	119936557	nonsense	probably null
R0550:Usp10	UTSW	8	119947801	missense	probably damaging	0.98
R2349:Usp10	UTSW	8	119956709	makesense	probably null
R4345:Usp10	UTSW	8	119954814	missense	probably damaging	1.00
R4782:Usp10	UTSW	8	119941191	missense	probably benign	0.03
R5182:Usp10	UTSW	8	119956681	missense	possibly damaging	0.95
R5184:Usp10	UTSW	8	119956681	missense	possibly damaging	0.95
R5461:Usp10	UTSW	8	119956667	missense	probably benign	0.44
R5749:Usp10	UTSW	8	119941133	missense	probably damaging	0.99
R5873:Usp10	UTSW	8	119947092	missense	possibly damaging	0.60
R5935:Usp10	UTSW	8	119947089	missense	possibly damaging	0.74
R6242:Usp10	UTSW	8	119941838	missense	probably benign	0.01
R6362:Usp10	UTSW	8	119941316	missense	probably benign	0.00
R6608:Usp10	UTSW	8	119948422	missense	probably benign	0.06
R6774:Usp10	UTSW	8	119951972	missense	probably benign
R7148:Usp10	UTSW	8	119936550	missense	possibly damaging	0.47
R7164:Usp10	UTSW	8	119942108	missense	probably damaging	1.00
R7238:Usp10	UTSW	8	119941544	missense	probably benign
R7310:Usp10	UTSW	8	119941605	missense	possibly damaging	0.89
R7792:Usp10	UTSW	8	119952001	missense	possibly damaging	0.54
R8552:Usp10	UTSW	8	119956628	missense	possibly damaging	0.81
R9020:Usp10	UTSW	8	119941165	missense	probably benign	0.30
R9380:Usp10	UTSW	8	119956204	missense	probably damaging	1.00
R9771:Usp10	UTSW	8	119931881	frame shift	probably null
R9772:Usp10	UTSW	8	119931881	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGTGTTTTCCCCGTGTG -3'
(R):5'- TTGAGTGTCTCCACCATAAACC -3'

Sequencing Primer
(F):5'- TTTTCCCCGTGTGATGGG -3'
(R):5'- CAAGTCACAGCTCGAGGCATG -3'

Posted On

2022-07-18