Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Usp15'

630409

Institutional Source

Beutler Lab

Gene Symbol

Usp15

Ensembl Gene

ENSMUSG00000020124

Gene Name

ubiquitin specific peptidase 15

Synonyms

Gcap18, E430033I05Rik, 4921514G19Rik

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122940911-123032900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122982826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 263 (Y263C)

Ref Sequence

ENSEMBL: ENSMUSP00000151244 (fasta)

Gene Model

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

AlphaFold

Q8R5H1

Predicted Effect

probably benign
Transcript: ENSMUST00000020334
AA Change: Y234C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: Y234C

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: Y263C

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.0966

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Mkrn1	T	C	6: 39,387,031 (GRCm39)	D102G	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Srsf1	T	C	11: 87,940,082 (GRCm39)	I198T	probably benign	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly 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
R7197:Usp15	UTSW	10	122,966,910 (GRCm39)	missense	possibly damaging	0.92
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
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'- GTGACTCCATGAACACAAGTTTCC -3'
(R):5'- GATGCTACTCCCATTACCGC -3'

Sequencing Primer
(F):5'- CCTCTGCTTGGAAAGACCTAC -3'
(R):5'- ATGCCATAGCTAAGGAGGTTTC -3'

Posted On

2020-06-30