Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Usp15'

560026

Institutional Source

Beutler Lab

Gene Symbol

Usp15

Ensembl Gene

ENSMUSG00000020124

Gene Name

ubiquitin specific peptidase 15

Synonyms

Gcap18, E430033I05Rik, 4921514G19Rik

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122940911-123032900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122966910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 470 (M470K)

Ref Sequence

ENSEMBL: ENSMUSP00000151244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020334] [ENSMUST00000220377]

AlphaFold

Q8R5H1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020334
AA Change: M441K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: M441K

Domain	Start	End	E-Value	Type
DUSP	23	121	1.5e-46	SMART
Pfam:Ubiquitin_3	135	222	3.7e-38	PFAM
low complexity region	242	262	N/A	INTRINSIC
Pfam:UCH	288	930	6.8e-86	PFAM
Pfam:UCH_1	289	506	1.1e-5	PFAM
Pfam:USP7_C2	460	608	2e-7	PFAM
Pfam:UCH_1	756	912	1.3e-11	PFAM
low complexity region	959	976	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220377
AA Change: M470K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1369

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the large ubiquitin specific protease (Usp) family of proteins. These proteins are known to cleave ubiquitin, and contain a conserved cysteine residue (Cys box) and two conserved histidine residues (His box) that are thought to form part of the active site of the protease. This protein has been shown to cleave both the ubiquitin-proline and the ubiquitin-methionine bonds in vitro. This protein is thought to regulate many cellular processes through its deubiquitination activity, including the transforming growth factor beta (TGF-beta) pathway. Cardiac-specific overexpression of the human ortholog of this gene in mice causes enlargement of the heart that is more pronounced in the atrium than in the ventricle. This gene has two pseudogenes on chromosome 14. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms.[provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
Aars2	T	C	17: 45,819,885 (GRCm39)	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,836,648 (GRCm39)	R1216*	probably null	Het
Acad8	A	T	9: 26,888,967 (GRCm39)		probably null	Het
Acer2	A	G	4: 86,805,287 (GRCm39)	T84A	probably null	Het
Adgrb2	A	G	4: 129,903,315 (GRCm39)	N613S	probably damaging	Het
Arap2	T	C	5: 62,798,729 (GRCm39)	D1300G	possibly damaging	Het
Castor1	T	C	11: 4,168,949 (GRCm39)	C39R	probably damaging	Het
Ccl11	A	T	11: 81,948,665 (GRCm39)		probably benign	Het
Cfh	A	T	1: 140,016,505 (GRCm39)	Y1151*	probably null	Het
Cobll1	A	G	2: 64,928,882 (GRCm39)	S815P	probably benign	Het
Cryz	T	C	3: 154,327,205 (GRCm39)	S240P	probably damaging	Het
Csmd2	A	G	4: 128,404,826 (GRCm39)	Y2404C		Het
F13a1	T	C	13: 37,100,860 (GRCm39)	D428G	probably damaging	Het
Fbxo42	A	G	4: 140,927,396 (GRCm39)	S559G	probably benign	Het
Fry	A	G	5: 150,393,232 (GRCm39)	S263G		Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Gm1527	A	G	3: 28,980,690 (GRCm39)	M597V	probably null	Het
Gpr158	A	T	2: 21,815,412 (GRCm39)	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,756,624 (GRCm39)	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,094,069 (GRCm39)	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,204,546 (GRCm39)	N366K	probably damaging	Het
Kif15	T	C	9: 122,838,991 (GRCm39)		probably null	Het
Klk1b26	T	A	7: 43,665,821 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,044,700 (GRCm39)	E200*	probably null	Het
Lpar5	C	T	6: 125,059,347 (GRCm39)	T356I	probably benign	Het
Lrch3	A	T	16: 32,810,665 (GRCm39)	T538S	probably damaging	Het
Mansc4	A	G	6: 146,977,203 (GRCm39)	S138P	probably damaging	Het
Mief1	T	C	15: 80,134,061 (GRCm39)	S373P	possibly damaging	Het
Nbas	G	T	12: 13,570,751 (GRCm39)	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,121,614 (GRCm39)	E435G	probably damaging	Het
Nynrin	A	T	14: 56,109,380 (GRCm39)	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,794 (GRCm39)	M41L	probably benign	Het
Or10a5	A	G	7: 106,635,364 (GRCm39)	M8V	probably benign	Het
Or4c115	A	G	2: 88,927,626 (GRCm39)	V215A	probably benign	Het
Or4c29	A	T	2: 88,740,708 (GRCm39)	F10I	probably benign	Het
Or7h8	T	G	9: 20,123,851 (GRCm39)	S69A	probably benign	Het
Oxnad1	T	C	14: 31,818,473 (GRCm39)	V106A	possibly damaging	Het
Padi4	C	A	4: 140,488,969 (GRCm39)	E157*	probably null	Het
Parp10	A	T	15: 76,126,616 (GRCm39)	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,623,436 (GRCm39)	S255R	probably benign	Het
Pde4c	G	T	8: 71,197,978 (GRCm39)	G102W	probably damaging	Het
Pde6a	T	C	18: 61,391,295 (GRCm39)	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,563,507 (GRCm39)	L137I	probably benign	Het
Pigh	A	C	12: 79,130,463 (GRCm39)	I134S	probably damaging	Het
Pigt	G	A	2: 164,344,436 (GRCm39)	V362M	probably damaging	Het
Pld1	A	G	3: 28,078,401 (GRCm39)	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288 (GRCm39)	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,527 (GRCm39)	V382A	probably damaging	Het
Prdm16	T	C	4: 154,425,967 (GRCm39)	E606G	probably damaging	Het
Psg28	A	G	7: 18,164,509 (GRCm39)	Y68H	probably damaging	Het
Qpctl	C	A	7: 18,882,944 (GRCm39)	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,319,137 (GRCm39)	P584L	probably damaging	Het
Sde2	C	T	1: 180,678,843 (GRCm39)	H36Y	probably benign	Het
Sema4d	T	C	13: 51,856,872 (GRCm39)	S787G	probably benign	Het
Sgca	C	T	11: 94,864,014 (GRCm39)		probably null	Het
Shroom3	A	G	5: 93,090,463 (GRCm39)	E1071G	probably damaging	Het
Skint5	A	G	4: 113,437,679 (GRCm39)		probably null	Het
Slc44a3	T	A	3: 121,319,411 (GRCm39)	D110V	probably benign	Het
Slc4a4	A	C	5: 89,082,433 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,688,857 (GRCm39)	D389G	probably damaging	Het
Sp3	C	G	2: 72,809,953 (GRCm39)	E11Q	probably benign	Het
Srrm2	A	G	17: 24,037,198 (GRCm39)	S1281G	unknown	Het
Tat	A	T	8: 110,723,459 (GRCm39)	I316F	probably benign	Het
Thoc5	A	G	11: 4,865,563 (GRCm39)	T381A	probably benign	Het
Tiam1	T	C	16: 89,681,826 (GRCm39)	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,632,026 (GRCm39)	F197L	probably damaging	Het
Trav8d-1	A	G	14: 53,016,435 (GRCm39)	Y107C	probably damaging	Het
Trim10	T	A	17: 37,187,846 (GRCm39)	V354D	probably damaging	Het
Unc45b	A	T	11: 82,831,013 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,078,765 (GRCm39)	I1643M	probably benign	Het
Unc80	G	T	1: 66,560,725 (GRCm39)	G818*	probably null	Het
Vldlr	T	C	19: 27,212,241 (GRCm39)	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994 (GRCm39)	V84A	probably benign	Het
Vmn2r67	C	T	7: 84,785,774 (GRCm39)	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,542,946 (GRCm39)	C221R	probably benign	Het
Zxdc	C	T	6: 90,355,819 (GRCm39)	H443Y	probably damaging	Het

Other mutations in Usp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Usp15	APN	10	122,949,501 (GRCm39)	missense	probably benign	0.00
IGL02148:Usp15	APN	10	122,963,742 (GRCm39)	missense	probably damaging	1.00
IGL02737:Usp15	APN	10	122,966,937 (GRCm39)	missense	probably damaging	1.00
IGL03054:Usp15	APN	10	122,961,836 (GRCm39)	splice site	probably benign
IGL03163:Usp15	APN	10	123,007,049 (GRCm39)	missense	probably damaging	0.96
R1755:Usp15	UTSW	10	122,968,949 (GRCm39)	missense	probably damaging	0.98
R1981:Usp15	UTSW	10	122,960,946 (GRCm39)	splice site	probably benign
R2049:Usp15	UTSW	10	122,955,042 (GRCm39)	missense	probably damaging	1.00
R3037:Usp15	UTSW	10	122,999,522 (GRCm39)	missense	probably damaging	1.00
R3698:Usp15	UTSW	10	123,017,643 (GRCm39)	missense	probably damaging	1.00
R3828:Usp15	UTSW	10	123,032,775 (GRCm39)	missense	possibly damaging	0.95
R3845:Usp15	UTSW	10	122,955,040 (GRCm39)	missense	probably damaging	1.00
R4838:Usp15	UTSW	10	122,963,662 (GRCm39)	missense	probably damaging	0.99
R4954:Usp15	UTSW	10	122,967,303 (GRCm39)	missense	probably damaging	1.00
R5204:Usp15	UTSW	10	122,949,545 (GRCm39)	missense	probably benign	0.06
R5274:Usp15	UTSW	10	123,004,256 (GRCm39)	missense	probably damaging	1.00
R5387:Usp15	UTSW	10	122,967,191 (GRCm39)	missense	probably damaging	0.96
R5474:Usp15	UTSW	10	122,963,950 (GRCm39)	missense	probably damaging	1.00
R5501:Usp15	UTSW	10	123,011,804 (GRCm39)	missense	probably damaging	0.99
R5665:Usp15	UTSW	10	122,966,892 (GRCm39)	nonsense	probably null
R5846:Usp15	UTSW	10	123,017,647 (GRCm39)	missense	probably damaging	1.00
R5850:Usp15	UTSW	10	122,960,417 (GRCm39)	critical splice donor site	probably null
R6163:Usp15	UTSW	10	123,004,210 (GRCm39)	missense	probably damaging	1.00
R6735:Usp15	UTSW	10	123,004,272 (GRCm39)	missense	possibly damaging	0.86
R6828:Usp15	UTSW	10	122,963,894 (GRCm39)	missense	probably damaging	1.00
R7170:Usp15	UTSW	10	123,007,100 (GRCm39)	missense	probably damaging	1.00
R7351:Usp15	UTSW	10	122,968,904 (GRCm39)	missense	probably damaging	1.00
R7368:Usp15	UTSW	10	123,032,798 (GRCm39)	missense	possibly damaging	0.86
R7447:Usp15	UTSW	10	123,011,786 (GRCm39)	missense	probably damaging	1.00
R8099:Usp15	UTSW	10	122,982,826 (GRCm39)	missense	possibly damaging	0.87
R8169:Usp15	UTSW	10	122,961,798 (GRCm39)	missense
R8316:Usp15	UTSW	10	122,959,848 (GRCm39)	missense
R8795:Usp15	UTSW	10	122,988,953 (GRCm39)	missense	probably benign	0.00
R9005:Usp15	UTSW	10	122,982,703 (GRCm39)	missense	possibly damaging	0.89
R9023:Usp15	UTSW	10	122,961,498 (GRCm39)	missense	possibly damaging	0.85
R9156:Usp15	UTSW	10	122,949,553 (GRCm39)	missense	probably benign	0.13
R9198:Usp15	UTSW	10	123,004,143 (GRCm39)	missense	probably damaging	1.00
R9278:Usp15	UTSW	10	123,007,112 (GRCm39)	missense	probably damaging	0.96
R9592:Usp15	UTSW	10	122,999,522 (GRCm39)	missense	probably damaging	1.00
Z1176:Usp15	UTSW	10	123,032,866 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGGTGCAACTTCCAGAG -3'
(R):5'- GACACCTCGTAGTAACTCTGTTCC -3'

Sequencing Primer
(F):5'- CAGGTGCAACTTCCAGAGTATTTAGC -3'
(R):5'- CCTTTCCTCTGTAGGTGGTTGC -3'

Posted On

2019-06-26