Mutagenetix > Incidental Mutation

Incidental Mutation 'R1373:Usp25'

157420

Institutional Source

Beutler Lab

Gene Symbol

Usp25

Ensembl Gene

ENSMUSG00000022867

Gene Name

ubiquitin specific peptidase 25

Synonyms

MMRRC Submission

039437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76810594-76913668 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76859273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867

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: 98.5%
10x: 97.0%
20x: 95.2%

Validation Efficiency

94% (34/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	G	A	14: 68,808,400 (GRCm39)	R317C	probably damaging	Het
Adgrl1	T	C	8: 84,664,392 (GRCm39)	V1261A	probably benign	Het
Btla	G	A	16: 45,044,783 (GRCm39)	G23D	probably benign	Het
Card19	T	C	13: 49,357,440 (GRCm39)	D110G	probably damaging	Het
Cbx7	C	T	15: 79,803,074 (GRCm39)	G160R	probably damaging	Het
Ccng2	C	T	5: 93,418,914 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,667,808 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cps1	A	G	1: 67,268,583 (GRCm39)	N1437S	possibly damaging	Het
Dcaf1	A	G	9: 106,735,079 (GRCm39)	I676V	probably benign	Het
Dnah5	T	A	15: 28,314,064 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,768,904 (GRCm39)	S1758P	probably benign	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Ice2	G	A	9: 69,314,401 (GRCm39)	R50H	probably benign	Het
Ifi207	T	A	1: 173,557,913 (GRCm39)	D275V	unknown	Het
Nrxn2	C	T	19: 6,522,331 (GRCm39)	T190M	probably damaging	Het
Odad4	T	C	11: 100,436,658 (GRCm39)	F11S	probably damaging	Het
Or14j8	T	C	17: 38,263,251 (GRCm39)	I221M	probably damaging	Het
Or2ag17	C	T	7: 106,389,963 (GRCm39)	V82I	probably benign	Het
Pcnx3	A	G	19: 5,715,544 (GRCm39)	L1494P	probably damaging	Het
Pitrm1	G	T	13: 6,620,736 (GRCm39)	M739I	probably benign	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Sfr1	C	G	19: 47,723,355 (GRCm39)	D286E	possibly damaging	Het
Slx4	A	G	16: 3,803,374 (GRCm39)	S1147P	probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgfbr3	T	C	5: 107,362,809 (GRCm39)	I68V	probably benign	Het
Tpmt	A	C	13: 47,180,734 (GRCm39)		probably null	Het
Trpm5	A	G	7: 142,640,579 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vps13c	A	T	9: 67,834,793 (GRCm39)	K1707N	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
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'- GAGCAACACTTCCTAGACCTTAAGAGC -3'
(R):5'- AGCCACCTGAAACTTGTTACCGC -3'

Sequencing Primer
(F):5'- ACCTTAAGAGCAACACTTAGTAGG -3'
(R):5'- AAAAGTCTCTCTCGGTTGCAC -3'

Posted On

2014-02-18