Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:Usp15'

641701

Institutional Source

Beutler Lab

Gene Symbol

Usp15

Ensembl Gene

ENSMUSG00000020124

Gene Name

ubiquitin specific peptidase 15

Synonyms

Gcap18, E430033I05Rik, 4921514G19Rik

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122940911-123032900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122959848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 855 (P855T)

Ref Sequence

ENSEMBL: ENSMUSP00000020334 (fasta)

Gene Model

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

AlphaFold

Q8R5H1

Predicted Effect

SMART Domains

Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: P855T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,059,612 (GRCm39)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
H2-T5	A	G	17: 36,479,154 (GRCm39)	S32P	unknown	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,691,074 (GRCm39)	K416I	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,395,670 (GRCm39)	Y279C	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
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
R8099:Usp15	UTSW	10	122,982,826 (GRCm39)	missense	possibly damaging	0.87
R8169:Usp15	UTSW	10	122,961,798 (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'- AGTACAGACTGAGTTACAACGTATC -3'
(R):5'- CATGGTTCTGCCTCTGTCAAG -3'

Sequencing Primer
(F):5'- catttcctttggtccatgaa -3'
(R):5'- GCCTCTGTCAAGCGCTATG -3'

Posted On

2020-07-28