Mutagenetix > Incidental Mutation

Incidental Mutation 'R9580:Usp25'

722509

Institutional Source

Beutler Lab

Gene Symbol

Usp25

Ensembl Gene

ENSMUSG00000022867

Gene Name

ubiquitin specific peptidase 25

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9580 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76810594-76913668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76880682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 681 (T681I)

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: T681I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: T681I

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	T	C	11: 62,156,145 (GRCm39)	M198T	probably damaging	Het
Agbl2	A	G	2: 90,636,248 (GRCm39)	T595A	probably benign	Het
Cep89	A	T	7: 35,102,538 (GRCm39)	I84F	possibly damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Erp44	T	A	4: 48,218,187 (GRCm39)	R161*	probably null	Het
Fcsk	A	G	8: 111,616,813 (GRCm39)	W446R	probably damaging	Het
Gm12185	T	G	11: 48,799,192 (GRCm39)	S434R	possibly damaging	Het
Hmcn2	G	T	2: 31,294,875 (GRCm39)	A2555S	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-61	A	G	12: 115,322,993 (GRCm39)	S40P	possibly damaging	Het
Kif26b	C	T	1: 178,506,643 (GRCm39)	Q240*	probably null	Het
Mapkap1	C	T	2: 34,509,878 (GRCm39)	T456M	probably damaging	Het
Ncapg2	A	G	12: 116,424,228 (GRCm39)	N1137S	probably damaging	Het
Nectin4	C	G	1: 171,211,324 (GRCm39)	R283G	probably damaging	Het
Nos2	A	G	11: 78,828,457 (GRCm39)	I259V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c119	T	C	2: 88,987,465 (GRCm39)	N18S	probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Ppargc1a	A	T	5: 51,620,139 (GRCm39)	N733K	unknown	Het
Ptpn5	A	G	7: 46,732,622 (GRCm39)	Y345H	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm47	A	C	5: 66,183,877 (GRCm39)	M242R	possibly damaging	Het
Slc12a5	T	G	2: 164,816,896 (GRCm39)	F140V	probably damaging	Het
Slc22a2	G	T	17: 12,803,177 (GRCm39)	V4L	probably benign	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas2r105	A	T	6: 131,663,699 (GRCm39)	I243K	probably damaging	Het
Tmem126b	G	T	7: 90,118,231 (GRCm39)	Y216*	probably null	Het
Vmn1r206	C	T	13: 22,804,890 (GRCm39)	A106T	probably damaging	Het
Vmn1r39	A	T	6: 66,781,915 (GRCm39)	N134K	probably damaging	Het
Vmn1r9	T	C	6: 57,048,812 (GRCm39)	S296P	probably benign	Het
Zfp97	T	A	17: 17,365,243 (GRCm39)	F247L	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
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
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'- GGAACTTATCAGAAACCTTCGACTC -3'
(R):5'- AGCAGACAAACCTGTGGTG -3'

Sequencing Primer
(F):5'- ATCAGAAACCTTCGACTCATTTTTC -3'
(R):5'- CAAACCTGTGGTGGCCGAAG -3'

Posted On

2022-08-09