Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03003:Usp10'

407442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp10

Ensembl Gene

ENSMUSG00000031826

Gene Name

ubiquitin specific peptidase 10

Synonyms

Uchrp, 2610014N07Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

119910360-119957560 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119954810 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 668 (T668A)

Ref Sequence

ENSEMBL: ENSMUSP00000104616 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108982

SMART Domains

Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108988
AA Change: T668A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: T668A

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

noncoding transcript
Transcript: ENSMUST00000125066

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

noncoding transcript
Transcript: ENSMUST00000137310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143615

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144458
AA Change: T669A

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: T669A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148767

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,743,772	P577L	probably damaging	Het
Aff3	A	T	1: 38,209,570	S819T	probably damaging	Het
Aftph	G	T	11: 20,726,982	S209*	probably null	Het
Astn1	T	A	1: 158,612,395	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,671,266	K29E	probably benign	Het
Ccdc93	T	C	1: 121,463,117	S273P	possibly damaging	Het
Cd200r3	G	T	16: 44,943,775	M1I	probably null	Het
Cd200r3	C	A	16: 44,943,776	H2N	probably benign	Het
Col7a1	G	A	9: 108,974,956		probably null	Het
Cyp3a41a	T	A	5: 145,705,830	M240L	probably benign	Het
D430042O09Rik	A	T	7: 125,851,960	I1088F	probably damaging	Het
Dcstamp	T	C	15: 39,754,510	V105A	possibly damaging	Het
Dmbt1	C	A	7: 131,082,679	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,336,819	M634K	probably benign	Het
Farp2	T	C	1: 93,567,418	Y138H	probably damaging	Het
Fga	T	C	3: 83,032,730	S564P	probably damaging	Het
Gbf1	T	C	19: 46,255,655	L142S	probably damaging	Het
Gm5422	T	C	10: 31,250,844		noncoding transcript	Het
Helz2	A	G	2: 181,240,253	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,433,486	T4204K	probably damaging	Het
Ift81	T	C	5: 122,594,662	I270V	probably benign	Het
Kif6	C	T	17: 49,753,871	R411*	probably null	Het
Klhl35	T	A	7: 99,470,343	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,504,697	D1531E	probably benign	Het
Muc5b	C	A	7: 141,863,614	D3432E	probably benign	Het
Nipbl	A	T	15: 8,350,314	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,964,862	V228L	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,374,910	A210V	possibly damaging	Het
Olfr364-ps1	T	C	2: 37,146,452	V80A	probably benign	Het
Olfr46	A	G	7: 140,610,370	Y60C	probably damaging	Het
Osbpl7	T	C	11: 97,050,695	Y15H	probably benign	Het
Pde8b	T	A	13: 95,041,957	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,984,812	S280T	probably benign	Het
Pkd1	T	A	17: 24,593,603		probably null	Het
Polh	A	T	17: 46,194,366	V108E	possibly damaging	Het
Prob1	A	G	18: 35,653,375	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,583	N1557K	probably damaging	Het
Rev1	A	C	1: 38,088,073	F369V	possibly damaging	Het
Rgma	A	G	7: 73,417,440	N148D	probably damaging	Het
Robo3	A	G	9: 37,419,291	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Sema6c	T	C	3: 95,169,614	L337P	probably damaging	Het
Shc4	A	T	2: 125,723,333	Y15*	probably null	Het
Slc4a9	T	C	18: 36,536,893	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,206,100	N864D	probably damaging	Het
Sspo	T	C	6: 48,455,087	L745P	probably damaging	Het
Syce1l	A	G	8: 113,654,067	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,316,438	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,661,887	D7G	probably benign	Het
Tmem109	A	C	19: 10,874,331	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,039,943	R333G	probably damaging	Het
Ttn	T	G	2: 76,781,611	S17316R	probably damaging	Het
Xirp2	T	A	2: 67,515,562	F2716I	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
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

Posted On

2016-08-02