Mutagenetix > Incidental Mutations

Incidental Mutation 'R0530:Usp9y'

49130

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Dffry, Fafl2

MMRRC Submission

038722-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0530 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 1333600 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091188]

Predicted Effect

probably benign
Transcript: ENSMUST00000091188

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
low complexity region	286	301	N/A	INTRINSIC
low complexity region	973	983	N/A	INTRINSIC
low complexity region	1089	1100	N/A	INTRINSIC
low complexity region	1352	1363	N/A	INTRINSIC
Pfam:UCH	1558	1955	9.2e-53	PFAM
Pfam:UCH_1	1559	1909	4e-22	PFAM
low complexity region	1959	1971	N/A	INTRINSIC

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	A	G	7: 29,530,120		noncoding transcript	Het
Abcg3	A	G	5: 104,936,054	W617R	probably damaging	Het
Cep83	A	T	10: 94,719,588		probably benign	Het
Ces1e	G	A	8: 93,219,521		probably benign	Het
Ckap2	A	G	8: 22,175,972		probably benign	Het
Clip1	C	A	5: 123,640,531	R443L	probably damaging	Het
Clmp	A	G	9: 40,761,006	D44G	probably benign	Het
Cntnap2	G	A	6: 46,529,905	Q304*	probably null	Het
Cst7	A	T	2: 150,570,515		probably benign	Het
Dclk3	A	T	9: 111,482,721	Y677F	probably damaging	Het
Dlat	G	T	9: 50,637,569	N562K	probably damaging	Het
Elmod1	A	T	9: 53,925,976	Y182N	probably damaging	Het
Fam19a3	T	C	3: 104,772,171		probably benign	Het
Fzd10	T	C	5: 128,602,013	F266L	probably damaging	Het
Gm5346	A	T	8: 43,626,531	C219S	probably benign	Het
Gm7534	A	G	4: 134,202,910	I28T	probably benign	Het
Gm8258	A	G	5: 104,776,086		noncoding transcript	Het
Gm9742	T	A	13: 8,030,005		noncoding transcript	Het
Hdlbp	T	C	1: 93,430,317		probably benign	Het
Itga8	A	G	2: 12,191,816	S597P	probably damaging	Het
Kndc1	A	T	7: 139,901,237	I80F	probably damaging	Het
Ktn1	A	G	14: 47,733,243	N1192S	probably benign	Het
Ldha	G	A	7: 46,853,993	V270M	probably damaging	Het
Lyst	T	C	13: 13,757,306		probably benign	Het
Map3k9	A	T	12: 81,722,482	F954I	probably benign	Het
Mroh2b	A	G	15: 4,934,395	N823S	probably damaging	Het
Mycbp2	A	T	14: 103,182,459	N2480K	probably damaging	Het
Nat1	A	G	8: 67,491,325	K121E	probably benign	Het
Neurl1b	T	A	17: 26,441,545		probably null	Het
Nnt	C	A	13: 119,394,721	L163F	probably damaging	Het
Olfr1417	A	G	19: 11,828,192	V278A	probably benign	Het
Otog	A	G	7: 46,298,244	T2274A	probably damaging	Het
Pde4b	G	A	4: 102,602,651	R561Q	probably damaging	Het
Pitpnm2	A	G	5: 124,131,201	F453L	probably damaging	Het
Pms1	T	C	1: 53,196,813		probably null	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Prdx6b	A	G	2: 80,293,315	N156S	probably damaging	Het
Ptpn9	A	G	9: 57,061,133	S586G	probably benign	Het
Serpina6	A	T	12: 103,651,794	N253K	probably damaging	Het
Slc12a2	T	A	18: 57,919,536	V809D	possibly damaging	Het
Slc2a8	C	T	2: 32,973,684	A449T	probably benign	Het
Slc6a6	A	G	6: 91,724,958	I116V	probably null	Het
Synj2	T	A	17: 6,008,105	S58R	possibly damaging	Het
Tktl2	T	C	8: 66,513,179	V463A	probably damaging	Het
Uchl5	T	C	1: 143,794,344	V105A	possibly damaging	Het
Vmn1r200	T	C	13: 22,395,497	S148P	probably damaging	Het
Vmn2r50	A	T	7: 10,047,717	M367K	possibly damaging	Het
Vps13a	T	C	19: 16,655,206		probably benign	Het
Wdr26	A	T	1: 181,186,070		probably null	Het
Ythdc2	T	A	18: 44,850,398	M544K	probably damaging	Het

Other mutations in Usp9y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4466001:Usp9y	UTSW	Y	1432197	missense	probably damaging	0.96
R0288:Usp9y	UTSW	Y	1333606	splice site	probably benign
R0365:Usp9y	UTSW	Y	1364732	missense	probably damaging	1.00
R0386:Usp9y	UTSW	Y	1316933	missense	probably damaging	1.00
R0395:Usp9y	UTSW	Y	1340053	missense	probably damaging	1.00
R0518:Usp9y	UTSW	Y	1307880	missense	probably benign
R0521:Usp9y	UTSW	Y	1307880	missense	probably benign
R0759:Usp9y	UTSW	Y	1299097	missense	probably damaging	0.99
R0849:Usp9y	UTSW	Y	1394002	missense	probably damaging	1.00
R0932:Usp9y	UTSW	Y	1315930	missense	probably benign	0.37
R1018:Usp9y	UTSW	Y	1341414	splice site	probably benign
R1208:Usp9y	UTSW	Y	1356282	missense	probably benign
R1208:Usp9y	UTSW	Y	1356282	missense	probably benign
R1470:Usp9y	UTSW	Y	1332471	missense	probably benign	0.19
R1470:Usp9y	UTSW	Y	1332471	missense	probably benign	0.19
R1730:Usp9y	UTSW	Y	1367093	missense	probably benign	0.18
R1743:Usp9y	UTSW	Y	1316727	missense	probably damaging	1.00
R1765:Usp9y	UTSW	Y	1384454	missense	possibly damaging	0.88
R1775:Usp9y	UTSW	Y	1368089	missense	probably damaging	1.00
R1783:Usp9y	UTSW	Y	1367093	missense	probably benign	0.18
R1889:Usp9y	UTSW	Y	1448829	splice site	probably null
R1901:Usp9y	UTSW	Y	1303371	critical splice donor site	probably null
R2081:Usp9y	UTSW	Y	1381277	missense	possibly damaging	0.65
R2119:Usp9y	UTSW	Y	1303451	missense	probably benign	0.00
R2357:Usp9y	UTSW	Y	1394050	missense	possibly damaging	0.87
R2873:Usp9y	UTSW	Y	1310502	splice site	probably benign
R3938:Usp9y	UTSW	Y	1313741	missense	probably damaging	0.97
R4323:Usp9y	UTSW	Y	1434407	missense	possibly damaging	0.93
R4385:Usp9y	UTSW	Y	1304756	missense	probably damaging	1.00
R4407:Usp9y	UTSW	Y	1336375	missense	probably benign	0.16
R4457:Usp9y	UTSW	Y	1394078	missense	possibly damaging	0.62
R4747:Usp9y	UTSW	Y	1391284	missense	possibly damaging	0.64
R4823:Usp9y	UTSW	Y	1444559	missense	probably damaging	0.99
R4834:Usp9y	UTSW	Y	1317002	missense	probably benign	0.32
R4872:Usp9y	UTSW	Y	1307920	missense	probably damaging	1.00
R4911:Usp9y	UTSW	Y	1308041	missense	probably damaging	0.96
R4915:Usp9y	UTSW	Y	1316735	missense	probably damaging	0.99
R4962:Usp9y	UTSW	Y	1384336	missense	probably damaging	1.00
R5378:Usp9y	UTSW	Y	1315928	missense	probably damaging	0.99
R5422:Usp9y	UTSW	Y	1314676	missense	probably benign
R5432:Usp9y	UTSW	Y	1368022	splice site	probably null
R5442:Usp9y	UTSW	Y	1336467	missense	possibly damaging	0.80
R5469:Usp9y	UTSW	Y	1364714	missense	probably benign	0.01
R5500:Usp9y	UTSW	Y	1341875	missense	probably damaging	1.00
R5729:Usp9y	UTSW	Y	1381339	missense	probably damaging	0.97
R5891:Usp9y	UTSW	Y	1341535	missense	probably benign	0.05
R5920:Usp9y	UTSW	Y	1316730	missense	probably damaging	1.00
R5948:Usp9y	UTSW	Y	1324996	missense	possibly damaging	0.79
R6062:Usp9y	UTSW	Y	1454199	missense	probably benign	0.28
R6265:Usp9y	UTSW	Y	1446843	missense	probably benign	0.00
R6274:Usp9y	UTSW	Y	1316735	missense	probably damaging	0.99
R6313:Usp9y	UTSW	Y	1385355	missense	probably benign
R6330:Usp9y	UTSW	Y	1340123	missense	probably benign	0.20
R6471:Usp9y	UTSW	Y	1384511	missense	probably damaging	1.00
R6547:Usp9y	UTSW	Y	1444612	missense	probably damaging	0.99
R6791:Usp9y	UTSW	Y	1325042	splice site	probably null
R7194:Usp9y	UTSW	Y	1304672	missense	probably damaging	1.00
R7341:Usp9y	UTSW	Y	1315759	splice site	probably null
R7357:Usp9y	UTSW	Y	1333656	missense	possibly damaging	0.58
R7374:Usp9y	UTSW	Y	1381305	missense	probably benign	0.00
R7404:Usp9y	UTSW	Y	1341780	missense	probably benign	0.35
R7481:Usp9y	UTSW	Y	1432180	missense	probably benign	0.08
R7584:Usp9y	UTSW	Y	1384451	missense	probably damaging	1.00
R7697:Usp9y	UTSW	Y	1316990	missense	possibly damaging	0.72
R7713:Usp9y	UTSW	Y	1304411	nonsense	probably null
R7790:Usp9y	UTSW	Y	1444573	missense	probably damaging	1.00
R7900:Usp9y	UTSW	Y	1384354	missense	possibly damaging	0.49
R7964:Usp9y	UTSW	Y	1316914	missense	probably benign	0.19
R8396:Usp9y	UTSW	Y	1308034	missense	possibly damaging	0.81
RF005:Usp9y	UTSW	Y	1435046	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGAGAGAACAATGCCGCATTCATTGTA -3'
(R):5'- CCACCAAAAGGATTTGTGGGACTGA -3'

Sequencing Primer
(F):5'- GTATACAAGCTGGCAACATACTG -3'
(R):5'- CTGAAAAATGCTGGTGCTACTTG -3'

Posted On

2013-06-12