Mutagenetix > Incidental Mutation

Incidental Mutation 'R8704:Usp25'

669209

Institutional Source

Beutler Lab

Gene Symbol

Usp25

Ensembl Gene

ENSMUSG00000022867

Gene Name

ubiquitin specific peptidase 25

Synonyms

MMRRC Submission

068558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8704 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76810594-76913668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76856178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 257 (D257G)

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

probably benign
Transcript: ENSMUST00000023580
AA Change: D257G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: D257G

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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

98% (39/40)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,773,489 (GRCm39)	Q628R	possibly damaging	Het
Agbl1	G	T	7: 76,239,302 (GRCm39)		probably benign	Het
Brf2	A	G	8: 27,618,499 (GRCm39)	V35A	possibly damaging	Het
Chtf8	A	C	8: 107,612,672 (GRCm39)	M89R	probably benign	Het
Copa	A	G	1: 171,931,693 (GRCm39)	I315V	probably benign	Het
Csmd2	G	A	4: 128,091,147 (GRCm39)	E229K		Het
Etf1	T	C	18: 35,039,139 (GRCm39)	E376G	probably damaging	Het
Fat2	T	A	11: 55,172,137 (GRCm39)	I2859F	probably damaging	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Gal3st3	T	C	19: 5,352,663 (GRCm39)	V30A	probably benign	Het
Gars1	C	T	6: 55,040,215 (GRCm39)	R381C	probably damaging	Het
Gjd3	C	T	11: 98,873,445 (GRCm39)	R133H	probably damaging	Het
Haspin	T	C	11: 73,028,828 (GRCm39)	N87S	probably benign	Het
Hcrt	A	T	11: 100,652,752 (GRCm39)		probably benign	Het
Heatr6	T	A	11: 83,668,104 (GRCm39)	M866K	probably benign	Het
Igf1r	T	C	7: 67,819,802 (GRCm39)		probably benign	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Lypd5	A	G	7: 24,050,982 (GRCm39)	H31R	possibly damaging	Het
Mib2	A	G	4: 155,743,620 (GRCm39)	M275T	possibly damaging	Het
Mmp19	G	A	10: 128,634,703 (GRCm39)	V440I	probably benign	Het
Nefm	T	C	14: 68,358,510 (GRCm39)	E508G	unknown	Het
Nlrp4a	A	T	7: 26,156,563 (GRCm39)	I763L	probably benign	Het
Or5p61	A	T	7: 107,758,711 (GRCm39)	V123D	possibly damaging	Het
Or9g4	T	A	2: 85,504,562 (GRCm39)	H311L		Het
Pcdhb1	T	A	18: 37,399,402 (GRCm39)	V451D	possibly damaging	Het
Pfkfb2	T	C	1: 130,625,780 (GRCm39)	N467D	probably benign	Het
Ptprc	G	A	1: 138,043,362 (GRCm39)	T63I	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rhobtb2	G	A	14: 70,031,373 (GRCm39)	P584L	probably damaging	Het
Rhoc	G	C	3: 104,699,342 (GRCm39)	A44P	probably damaging	Het
Sardh	T	C	2: 27,120,477 (GRCm39)	E435G	possibly damaging	Het
Stfa1	A	T	16: 36,105,536 (GRCm39)	D89V	probably damaging	Het
Tec	T	C	5: 72,926,105 (GRCm39)	K316E	probably damaging	Het
Tsen15	A	T	1: 152,247,541 (GRCm39)	Y150*	probably null	Het
Ugt1a5	T	C	1: 88,094,087 (GRCm39)	I105T	probably benign	Het
Vmn1r195	A	G	13: 22,463,058 (GRCm39)	Y176C	possibly damaging	Het
Wdr31	G	A	4: 62,380,442 (GRCm39)	A87V	probably benign	Het
Wwp2	A	T	8: 108,212,228 (GRCm39)	T177S	probably benign	Het
Zfp28	T	C	7: 6,397,637 (GRCm39)	C691R	probably damaging	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
R0741:Usp25	UTSW	16	76,868,596 (GRCm39)	missense	possibly damaging	0.80
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
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'- CGCCTCCTGTTGAAGTATTGG -3'
(R):5'- TCATTCTACAAATTACCCATGCAC -3'

Sequencing Primer
(F):5'- CCTCCTGTTGAAGTATTGGTTGATG -3'
(R):5'- CCTCCCAGGTGCTAGGATTAAAG -3'

Posted On

2021-04-30