Mutagenetix > Incidental Mutation

Incidental Mutation 'R0741:Usp25'

70704

Institutional Source

Beutler Lab

Gene Symbol

Usp25

Ensembl Gene

ENSMUSG00000022867

Gene Name

ubiquitin specific peptidase 25

Synonyms

MMRRC Submission

038922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76810594-76913668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76868596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 332 (D332E)

Ref Sequence

ENSEMBL: ENSMUSP00000023580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023580]

AlphaFold

P57080

PDB Structure

Solution Structure of RSGI RUH-013, a UBA domain in Mouse cDNA [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023580
AA Change: D332E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: D332E

Domain	Start	End	E-Value	Type
PDB:1VDL\|A	1	67	2e-35	PDB
Blast:UBA	17	56	9e-16	BLAST
UIM	97	116	5.27e-3	SMART
Pfam:UIM	124	140	6.7e-3	PFAM
Pfam:UCH	168	655	9.3e-55	PFAM
Pfam:UCH_1	169	632	3.1e-14	PFAM
coiled coil region	685	714	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased severity of IL17-induced pulmonary inflammation and MOG-induced experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	T	A	1: 93,329,309 (GRCm39)	I701N	probably damaging	Het
Asb7	A	T	7: 66,309,882 (GRCm39)	N111K	probably benign	Het
Atp10a	T	A	7: 58,478,337 (GRCm39)	L1460Q	possibly damaging	Het
Auh	T	C	13: 53,083,638 (GRCm39)	T14A	possibly damaging	Het
Caskin2	A	G	11: 115,695,626 (GRCm39)	V245A	probably damaging	Het
Cryba4	G	A	5: 112,394,554 (GRCm39)	R192C	probably damaging	Het
Ctsq	T	A	13: 61,184,019 (GRCm39)	D301V	probably damaging	Het
Dpyd	A	G	3: 118,468,154 (GRCm39)	E56G	possibly damaging	Het
Dtd2	T	C	12: 52,046,455 (GRCm39)	K128R	probably benign	Het
Eps8l3	A	G	3: 107,790,141 (GRCm39)	T141A	probably benign	Het
Evc	A	T	5: 37,483,739 (GRCm39)	I187N	possibly damaging	Het
Fam120a	A	G	13: 49,045,416 (GRCm39)	S807P	possibly damaging	Het
Fbxw22	G	A	9: 109,211,287 (GRCm39)	S338L	probably benign	Het
Gcnt4	G	T	13: 97,082,940 (GRCm39)	E79*	probably null	Het
Get4	G	A	5: 139,249,384 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,654,128 (GRCm39)	V954A	probably benign	Het
Ifi206	C	T	1: 173,301,315 (GRCm39)	V788M	probably benign	Het
Iqgap1	A	G	7: 80,370,735 (GRCm39)	S1545P	probably benign	Het
Kif21b	A	G	1: 136,087,482 (GRCm39)	T933A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Magee2	A	G	X: 103,899,472 (GRCm39)	L393P	probably damaging	Het
Mtrr	T	C	13: 68,727,658 (GRCm39)		probably null	Het
Nes	A	G	3: 87,886,274 (GRCm39)	E1467G	probably damaging	Het
Nol3	C	G	8: 106,005,756 (GRCm39)	A50G	probably damaging	Het
Nr2f2	G	A	7: 70,007,745 (GRCm39)	R113C	probably damaging	Het
Obscn	CCACACACACACAC	CCACACACACAC	11: 58,954,279 (GRCm39)		probably null	Het
Or10a3m	T	A	7: 108,312,811 (GRCm39)	C84S	probably benign	Het
Pnkd	T	A	1: 74,391,018 (GRCm39)	S337R	possibly damaging	Het
Ptprh	A	G	7: 4,557,172 (GRCm39)		probably null	Het
Ralgapa1	A	C	12: 55,723,366 (GRCm39)	V1767G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skap1	A	C	11: 96,383,759 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,722,902 (GRCm39)	S1250P	probably benign	Het
Txndc5	T	C	13: 38,712,236 (GRCm39)	H50R	possibly damaging	Het
Vgll1	A	T	X: 56,141,644 (GRCm39)		probably benign	Het

Other mutations in Usp25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Usp25	APN	16	76,859,293 (GRCm39)	missense	probably damaging	1.00
IGL01359:Usp25	APN	16	76,856,141 (GRCm39)	missense	probably damaging	1.00
IGL01380:Usp25	APN	16	76,890,566 (GRCm39)	missense	probably benign	0.06
IGL01614:Usp25	APN	16	76,874,005 (GRCm39)	missense	probably damaging	1.00
IGL02065:Usp25	APN	16	76,880,670 (GRCm39)	missense	probably benign	0.06
IGL02271:Usp25	APN	16	76,912,335 (GRCm39)	missense	probably damaging	1.00
IGL03184:Usp25	APN	16	76,878,541 (GRCm39)	missense	probably damaging	1.00
IGL03046:Usp25	UTSW	16	76,871,754 (GRCm39)	missense	probably damaging	1.00
R0433:Usp25	UTSW	16	76,906,105 (GRCm39)	missense	probably benign	0.02
R0944:Usp25	UTSW	16	76,878,335 (GRCm39)	splice site	probably benign
R1324:Usp25	UTSW	16	76,877,275 (GRCm39)	missense	probably damaging	0.98
R1341:Usp25	UTSW	16	76,912,331 (GRCm39)	missense	probably benign
R1373:Usp25	UTSW	16	76,859,273 (GRCm39)	splice site	probably benign
R1641:Usp25	UTSW	16	76,868,559 (GRCm39)	missense	possibly damaging	0.89
R1777:Usp25	UTSW	16	76,878,442 (GRCm39)	missense	probably damaging	1.00
R1813:Usp25	UTSW	16	76,911,838 (GRCm39)	missense	probably benign	0.00
R1960:Usp25	UTSW	16	76,873,259 (GRCm39)	missense	probably damaging	1.00
R2256:Usp25	UTSW	16	76,910,682 (GRCm39)	missense	probably benign
R2271:Usp25	UTSW	16	76,873,317 (GRCm39)	missense	probably damaging	0.97
R4404:Usp25	UTSW	16	76,912,341 (GRCm39)	missense	probably damaging	1.00
R4408:Usp25	UTSW	16	76,912,341 (GRCm39)	missense	probably damaging	1.00
R4502:Usp25	UTSW	16	76,912,284 (GRCm39)	missense	probably damaging	1.00
R4604:Usp25	UTSW	16	76,912,303 (GRCm39)	missense	probably damaging	1.00
R4612:Usp25	UTSW	16	76,830,833 (GRCm39)	missense	possibly damaging	0.92
R4744:Usp25	UTSW	16	76,911,877 (GRCm39)	missense	probably damaging	1.00
R4867:Usp25	UTSW	16	76,847,355 (GRCm39)	missense	probably damaging	1.00
R4932:Usp25	UTSW	16	76,830,870 (GRCm39)	critical splice donor site	probably null
R5087:Usp25	UTSW	16	76,874,007 (GRCm39)	missense	probably benign	0.00
R5165:Usp25	UTSW	16	76,873,293 (GRCm39)	missense	possibly damaging	0.85
R5184:Usp25	UTSW	16	76,906,115 (GRCm39)	missense	probably benign	0.00
R5307:Usp25	UTSW	16	76,890,594 (GRCm39)	missense	probably benign
R5331:Usp25	UTSW	16	76,847,446 (GRCm39)	missense	probably damaging	1.00
R5355:Usp25	UTSW	16	76,847,342 (GRCm39)	missense	probably damaging	1.00
R5479:Usp25	UTSW	16	76,904,801 (GRCm39)	missense	possibly damaging	0.51
R5619:Usp25	UTSW	16	76,830,833 (GRCm39)	missense	probably benign	0.22
R5646:Usp25	UTSW	16	76,847,360 (GRCm39)	missense	probably benign	0.34
R5946:Usp25	UTSW	16	76,911,942 (GRCm39)	nonsense	probably null
R6013:Usp25	UTSW	16	76,873,909 (GRCm39)	missense	probably benign	0.00
R6418:Usp25	UTSW	16	76,859,330 (GRCm39)	missense	probably damaging	1.00
R6653:Usp25	UTSW	16	76,856,176 (GRCm39)	missense	probably benign	0.29
R6709:Usp25	UTSW	16	76,880,820 (GRCm39)	missense	probably benign
R6987:Usp25	UTSW	16	76,874,068 (GRCm39)	missense	probably damaging	1.00
R7418:Usp25	UTSW	16	76,910,730 (GRCm39)	nonsense	probably null
R7500:Usp25	UTSW	16	76,874,089 (GRCm39)	missense	probably damaging	1.00
R7886:Usp25	UTSW	16	76,910,659 (GRCm39)	missense	probably damaging	0.99
R7961:Usp25	UTSW	16	76,856,150 (GRCm39)	missense	probably damaging	1.00
R8005:Usp25	UTSW	16	76,873,956 (GRCm39)	missense	probably benign
R8046:Usp25	UTSW	16	76,906,063 (GRCm39)	missense	probably damaging	1.00
R8069:Usp25	UTSW	16	76,865,943 (GRCm39)	missense	possibly damaging	0.58
R8140:Usp25	UTSW	16	76,868,569 (GRCm39)	nonsense	probably null
R8167:Usp25	UTSW	16	76,904,819 (GRCm39)	missense	probably damaging	1.00
R8437:Usp25	UTSW	16	76,830,800 (GRCm39)	missense	probably damaging	1.00
R8704:Usp25	UTSW	16	76,856,178 (GRCm39)	missense	probably benign	0.00
R8903:Usp25	UTSW	16	76,878,421 (GRCm39)	missense	probably damaging	1.00
R9123:Usp25	UTSW	16	76,911,969 (GRCm39)	critical splice donor site	probably null
R9276:Usp25	UTSW	16	76,910,721 (GRCm39)	missense	probably benign	0.09
R9286:Usp25	UTSW	16	76,904,864 (GRCm39)	missense	probably damaging	1.00
R9368:Usp25	UTSW	16	76,904,843 (GRCm39)	missense	probably damaging	1.00
R9489:Usp25	UTSW	16	76,874,046 (GRCm39)	missense	probably damaging	1.00
R9515:Usp25	UTSW	16	76,852,076 (GRCm39)	missense	probably damaging	1.00
R9516:Usp25	UTSW	16	76,852,076 (GRCm39)	missense	probably damaging	1.00
R9580:Usp25	UTSW	16	76,880,682 (GRCm39)	missense	probably benign	0.00
R9605:Usp25	UTSW	16	76,874,046 (GRCm39)	missense	probably damaging	1.00
R9667:Usp25	UTSW	16	76,874,123 (GRCm39)	critical splice donor site	probably null
X0065:Usp25	UTSW	16	76,878,444 (GRCm39)	missense	probably damaging	1.00
Z1176:Usp25	UTSW	16	76,878,409 (GRCm39)	missense	probably damaging	1.00
Z1176:Usp25	UTSW	16	76,868,680 (GRCm39)	missense	possibly damaging	0.93
Z1176:Usp25	UTSW	16	76,868,679 (GRCm39)	missense	probably damaging	0.98
Z1176:Usp25	UTSW	16	76,910,718 (GRCm39)	missense	probably benign
Z1176:Usp25	UTSW	16	76,880,801 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCAGTGGAAAGCTCTACTAACCC -3'
(R):5'- CCGTCATTCCCAGCTATGTGATCAG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctccc -3'
(R):5'- CCAGCTATGTGATCAGAACCTTATAC -3'

Posted On

2013-09-30