Mutagenetix > Incidental Mutation

Incidental Mutation 'R1324:Usp25'

157170

Institutional Source

Beutler Lab

Gene Symbol

Usp25

Ensembl Gene

ENSMUSG00000022867

Gene Name

ubiquitin specific peptidase 25

Synonyms

MMRRC Submission

039390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76810594-76913668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76877275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 587 (M587K)

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 damaging
Transcript: ENSMUST00000023580
AA Change: M587K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: M587K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232538

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 93.2%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	T	A	11: 61,805,847 (GRCm39)		probably null	Het
Col11a1	A	G	3: 113,824,565 (GRCm39)	R6G	unknown	Het
Enam	A	T	5: 88,641,927 (GRCm39)	Y172F	possibly damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Kif21a	A	T	15: 90,832,525 (GRCm39)		probably null	Het
Lmnb2	T	C	10: 80,740,005 (GRCm39)	I330V	possibly damaging	Het
Myom1	T	A	17: 71,359,714 (GRCm39)	I462N	probably damaging	Het
Negr1	C	T	3: 156,774,860 (GRCm39)	A192V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nrxn3	T	C	12: 89,221,466 (GRCm39)	I42T	possibly damaging	Het
Pheta2	A	G	15: 82,227,699 (GRCm39)	T73A	probably damaging	Het
Rnf141	G	A	7: 110,416,050 (GRCm39)	R184*	probably null	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Thoc6	G	T	17: 23,896,437 (GRCm39)		probably null	Het
Tmem39a	T	A	16: 38,393,531 (GRCm39)	F77I	possibly damaging	Het
Ttn	T	C	2: 76,611,930 (GRCm39)	D15578G	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
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'- CCCAGGTGACCGTGTCCTCCATTA -3'
(R):5'- GGGCTTCAGGGTTTCTACCCCA -3'

Sequencing Primer
(F):5'- AAGTCCCGTCTTCTATCCAGG -3'
(R):5'- atgtccagcagtccacaac -3'

Posted On

2014-02-18