Mutagenetix > Incidental Mutation

Incidental Mutation 'R5442:Usp9y'

427249

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

MMRRC Submission

043007-MU

Accession Numbers

Essential gene?

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

Stock #

R5442 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 1336467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1469 (I1469T)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091188
AA Change: I1469T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: I1469T

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,909,594 (GRCm39)	M114T	probably benign	Het
Ablim3	A	T	18: 61,990,296 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,340,709 (GRCm39)	D238G	probably benign	Het
Astn2	G	T	4: 65,500,023 (GRCm39)	S955R	possibly damaging	Het
Casc3	A	G	11: 98,712,297 (GRCm39)	E112G	probably damaging	Het
Cetn4	C	T	3: 37,364,094 (GRCm39)	V39I	probably benign	Het
Commd4	A	G	9: 57,064,090 (GRCm39)	V37A	possibly damaging	Het
Dyrk2	T	C	10: 118,696,643 (GRCm39)	Q205R	possibly damaging	Het
Gal3st4	A	G	5: 138,264,042 (GRCm39)	V319A	possibly damaging	Het
Inpp5d	G	A	1: 87,645,788 (GRCm39)	A1058T	probably benign	Het
Lpin3	A	G	2: 160,746,936 (GRCm39)	Y781C	probably damaging	Het
Lrat	C	T	3: 82,810,527 (GRCm39)	V165M	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Nlrp6	T	C	7: 140,502,103 (GRCm39)	S142P	probably benign	Het
Oas1a	T	C	5: 121,035,269 (GRCm39)	T349A	probably benign	Het
Or52e8	A	T	7: 104,624,435 (GRCm39)	F252L	possibly damaging	Het
Or5m3b	T	C	2: 85,872,295 (GRCm39)	V212A	probably benign	Het
Or5v1	A	T	17: 37,810,330 (GRCm39)	I263F	probably damaging	Het
Or8c20	T	A	9: 38,261,158 (GRCm39)	S260T	probably benign	Het
Pakap	C	A	4: 57,637,876 (GRCm39)	P18Q	probably null	Het
Pcdha2	T	C	18: 37,072,915 (GRCm39)	V182A	probably benign	Het
Phactr3	A	G	2: 177,784,254 (GRCm39)	D26G	probably benign	Het
Phrf1	G	A	7: 140,820,850 (GRCm39)	R159H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3ip	T	C	10: 116,754,753 (GRCm39)	T268A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rem1	A	G	2: 152,469,977 (GRCm39)		probably null	Het
Slc28a2b	A	G	2: 122,317,350 (GRCm39)	N36S	probably benign	Het
Syne1	A	G	10: 5,293,473 (GRCm39)	M1286T	probably benign	Het
Thsd7a	T	C	6: 12,748,799 (GRCm39)	T52A	probably benign	Het
Tmem135	A	T	7: 88,793,872 (GRCm39)	F390Y	probably damaging	Het
Trio	T	C	15: 27,856,280 (GRCm39)	D696G	probably benign	Het
Ttll11	T	C	2: 35,793,135 (GRCm39)	*191W	probably null	Het
Ubr4	A	G	4: 139,135,083 (GRCm39)	D805G	probably damaging	Het
Vmn1r70	G	T	7: 10,367,877 (GRCm39)	A122S	possibly damaging	Het
Vmn2r78	G	T	7: 86,569,330 (GRCm39)	L74F	possibly damaging	Het
Wdfy3	T	C	5: 102,044,425 (GRCm39)	E1860G	probably benign	Het

Other mutations in Usp9y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4466001:Usp9y	UTSW	Y	1,432,197 (GRCm39)	missense	probably damaging	0.96
R0288:Usp9y	UTSW	Y	1,333,606 (GRCm39)	splice site	probably benign
R0365:Usp9y	UTSW	Y	1,364,732 (GRCm39)	missense	probably damaging	1.00
R0386:Usp9y	UTSW	Y	1,316,933 (GRCm39)	missense	probably damaging	1.00
R0395:Usp9y	UTSW	Y	1,340,053 (GRCm39)	missense	probably damaging	1.00
R0518:Usp9y	UTSW	Y	1,307,880 (GRCm39)	missense	probably benign
R0521:Usp9y	UTSW	Y	1,307,880 (GRCm39)	missense	probably benign
R0530:Usp9y	UTSW	Y	1,333,600 (GRCm39)	splice site	probably benign
R0759:Usp9y	UTSW	Y	1,299,097 (GRCm39)	missense	probably damaging	0.99
R0849:Usp9y	UTSW	Y	1,394,002 (GRCm39)	missense	probably damaging	1.00
R0932:Usp9y	UTSW	Y	1,315,930 (GRCm39)	missense	probably benign	0.37
R1018:Usp9y	UTSW	Y	1,341,414 (GRCm39)	splice site	probably benign
R1208:Usp9y	UTSW	Y	1,356,282 (GRCm39)	missense	probably benign
R1208:Usp9y	UTSW	Y	1,356,282 (GRCm39)	missense	probably benign
R1470:Usp9y	UTSW	Y	1,332,471 (GRCm39)	missense	probably benign	0.19
R1470:Usp9y	UTSW	Y	1,332,471 (GRCm39)	missense	probably benign	0.19
R1730:Usp9y	UTSW	Y	1,367,093 (GRCm39)	missense	probably benign	0.18
R1743:Usp9y	UTSW	Y	1,316,727 (GRCm39)	missense	probably damaging	1.00
R1765:Usp9y	UTSW	Y	1,384,454 (GRCm39)	missense	possibly damaging	0.88
R1775:Usp9y	UTSW	Y	1,368,089 (GRCm39)	missense	probably damaging	1.00
R1783:Usp9y	UTSW	Y	1,367,093 (GRCm39)	missense	probably benign	0.18
R1889:Usp9y	UTSW	Y	1,448,829 (GRCm39)	splice site	probably null
R1901:Usp9y	UTSW	Y	1,303,371 (GRCm39)	critical splice donor site	probably null
R2081:Usp9y	UTSW	Y	1,381,277 (GRCm39)	missense	possibly damaging	0.65
R2119:Usp9y	UTSW	Y	1,303,451 (GRCm39)	missense	probably benign	0.00
R2357:Usp9y	UTSW	Y	1,394,050 (GRCm39)	missense	possibly damaging	0.87
R2873:Usp9y	UTSW	Y	1,310,502 (GRCm39)	splice site	probably benign
R3938:Usp9y	UTSW	Y	1,313,741 (GRCm39)	missense	probably damaging	0.97
R4323:Usp9y	UTSW	Y	1,434,407 (GRCm39)	missense	possibly damaging	0.93
R4385:Usp9y	UTSW	Y	1,304,756 (GRCm39)	missense	probably damaging	1.00
R4407:Usp9y	UTSW	Y	1,336,375 (GRCm39)	missense	probably benign	0.16
R4457:Usp9y	UTSW	Y	1,394,078 (GRCm39)	missense	possibly damaging	0.62
R4747:Usp9y	UTSW	Y	1,391,284 (GRCm39)	missense	possibly damaging	0.64
R4823:Usp9y	UTSW	Y	1,444,559 (GRCm39)	missense	probably damaging	0.99
R4834:Usp9y	UTSW	Y	1,317,002 (GRCm39)	missense	probably benign	0.32
R4872:Usp9y	UTSW	Y	1,307,920 (GRCm39)	missense	probably damaging	1.00
R4911:Usp9y	UTSW	Y	1,308,041 (GRCm39)	missense	probably damaging	0.96
R4915:Usp9y	UTSW	Y	1,316,735 (GRCm39)	missense	probably damaging	0.99
R4962:Usp9y	UTSW	Y	1,384,336 (GRCm39)	missense	probably damaging	1.00
R5378:Usp9y	UTSW	Y	1,315,928 (GRCm39)	missense	probably damaging	0.99
R5422:Usp9y	UTSW	Y	1,314,676 (GRCm39)	missense	probably benign
R5432:Usp9y	UTSW	Y	1,368,022 (GRCm39)	splice site	probably null
R5469:Usp9y	UTSW	Y	1,364,714 (GRCm39)	missense	probably benign	0.01
R5500:Usp9y	UTSW	Y	1,341,875 (GRCm39)	missense	probably damaging	1.00
R5729:Usp9y	UTSW	Y	1,381,339 (GRCm39)	missense	probably damaging	0.97
R5891:Usp9y	UTSW	Y	1,341,535 (GRCm39)	missense	probably benign	0.05
R5920:Usp9y	UTSW	Y	1,316,730 (GRCm39)	missense	probably damaging	1.00
R5948:Usp9y	UTSW	Y	1,324,996 (GRCm39)	missense	possibly damaging	0.79
R6062:Usp9y	UTSW	Y	1,454,199 (GRCm39)	missense	probably benign	0.28
R6265:Usp9y	UTSW	Y	1,446,843 (GRCm39)	missense	probably benign	0.00
R6274:Usp9y	UTSW	Y	1,316,735 (GRCm39)	missense	probably damaging	0.99
R6313:Usp9y	UTSW	Y	1,385,355 (GRCm39)	missense	probably benign
R6330:Usp9y	UTSW	Y	1,340,123 (GRCm39)	missense	probably benign	0.20
R6471:Usp9y	UTSW	Y	1,384,511 (GRCm39)	missense	probably damaging	1.00
R6547:Usp9y	UTSW	Y	1,444,612 (GRCm39)	missense	probably damaging	0.99
R6791:Usp9y	UTSW	Y	1,325,042 (GRCm39)	splice site	probably null
R7194:Usp9y	UTSW	Y	1,304,672 (GRCm39)	missense	probably damaging	1.00
R7341:Usp9y	UTSW	Y	1,315,759 (GRCm39)	splice site	probably null
R7357:Usp9y	UTSW	Y	1,333,656 (GRCm39)	missense	possibly damaging	0.58
R7374:Usp9y	UTSW	Y	1,381,305 (GRCm39)	missense	probably benign	0.00
R7404:Usp9y	UTSW	Y	1,341,780 (GRCm39)	missense	probably benign	0.35
R7481:Usp9y	UTSW	Y	1,432,180 (GRCm39)	missense	probably benign	0.08
R7584:Usp9y	UTSW	Y	1,384,451 (GRCm39)	missense	probably damaging	1.00
R7697:Usp9y	UTSW	Y	1,316,990 (GRCm39)	missense	possibly damaging	0.72
R7713:Usp9y	UTSW	Y	1,304,411 (GRCm39)	nonsense	probably null
R7790:Usp9y	UTSW	Y	1,444,573 (GRCm39)	missense	probably damaging	1.00
R7900:Usp9y	UTSW	Y	1,384,354 (GRCm39)	missense	possibly damaging	0.49
R7964:Usp9y	UTSW	Y	1,316,914 (GRCm39)	missense	probably benign	0.19
R8396:Usp9y	UTSW	Y	1,308,034 (GRCm39)	missense	possibly damaging	0.81
R8703:Usp9y	UTSW	Y	1,356,317 (GRCm39)	missense	probably damaging	0.98
R8776:Usp9y	UTSW	Y	1,356,320 (GRCm39)	missense	probably benign	0.15
R8776-TAIL:Usp9y	UTSW	Y	1,356,320 (GRCm39)	missense	probably benign	0.15
R8855:Usp9y	UTSW	Y	1,395,758 (GRCm39)	missense	probably damaging	1.00
R8866:Usp9y	UTSW	Y	1,395,758 (GRCm39)	missense	probably damaging	1.00
R8952:Usp9y	UTSW	Y	1,332,662 (GRCm39)	intron	probably benign
R9008:Usp9y	UTSW	Y	1,434,993 (GRCm39)	missense	possibly damaging	0.69
R9011:Usp9y	UTSW	Y	1,316,978 (GRCm39)	missense	probably benign	0.00
R9076:Usp9y	UTSW	Y	1,383,354 (GRCm39)	missense	probably benign	0.08
R9256:Usp9y	UTSW	Y	1,356,235 (GRCm39)	missense	possibly damaging	0.87
R9332:Usp9y	UTSW	Y	1,341,873 (GRCm39)	missense	probably damaging	1.00
R9367:Usp9y	UTSW	Y	1,324,982 (GRCm39)	missense	probably damaging	1.00
R9382:Usp9y	UTSW	Y	1,364,776 (GRCm39)	missense	probably benign	0.08
R9503:Usp9y	UTSW	Y	1,316,045 (GRCm39)	missense	possibly damaging	0.89
R9515:Usp9y	UTSW	Y	1,432,188 (GRCm39)	missense	probably benign	0.28
R9792:Usp9y	UTSW	Y	1,364,679 (GRCm39)	missense	probably benign	0.16
R9793:Usp9y	UTSW	Y	1,364,679 (GRCm39)	missense	probably benign	0.16
R9795:Usp9y	UTSW	Y	1,364,679 (GRCm39)	missense	probably benign	0.16
RF005:Usp9y	UTSW	Y	1,435,046 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTACTGGTGTGCCTATGTAAAACAG -3'
(R):5'- GAGATTTTCTGTCTTCAAATACCGC -3'

Sequencing Primer
(F):5'- GGTGTGCCTATGTAAAACAGTTCAG -3'
(R):5'- ATTCTTTCGATTTTGCTTTGTAAGTC -3'

Posted On

2016-09-01