Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4466001:Usp9y'

555814

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

Accession Numbers

Essential gene?

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

Stock #

PIT4466001 (G1)

Quality Score

162.067

Status

Not validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 1432197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 429 (D429E)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000091188
AA Change: D429E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: D429E

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: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Adamts1	C	A	16: 85,593,579 (GRCm39)	G719*	probably null	Het
Ano5	G	T	7: 51,194,599 (GRCm39)	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
AU021092	T	A	16: 5,038,253 (GRCm39)	S85C	probably damaging	Het
Capn5	T	C	7: 97,773,195 (GRCm39)	D603G	probably benign	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cep112	A	G	11: 108,410,722 (GRCm39)	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cntnap1	T	C	11: 101,068,131 (GRCm39)	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,046,064 (GRCm39)	D84G	probably damaging	Het
Ddx47	T	C	6: 134,992,803 (GRCm39)	I154T	probably benign	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Dnah6	A	G	6: 73,185,624 (GRCm39)	L99P	probably benign	Het
Dzank1	A	G	2: 144,325,293 (GRCm39)	I558T	probably benign	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Fndc1	A	G	17: 7,969,206 (GRCm39)	L1553P	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gm3099	A	G	14: 15,346,517 (GRCm39)	M128V	probably benign	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Hck	C	T	2: 152,966,191 (GRCm39)	T55M	probably damaging	Het
Hectd4	T	C	5: 121,471,123 (GRCm39)		probably null	Het
Ica1l	C	T	1: 60,054,995 (GRCm39)		probably null	Het
Ilf3	T	C	9: 21,314,662 (GRCm39)	Y765H	unknown	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,748,056 (GRCm39)	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541 (GRCm39)	D498N	probably benign	Het
Naaladl1	A	T	19: 6,164,663 (GRCm39)	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,247,577 (GRCm39)	I1909N	probably benign	Het
Negr1	A	G	3: 156,565,235 (GRCm39)	D107G	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Nmnat3	T	G	9: 98,292,306 (GRCm39)	F184V	probably benign	Het
Or4b12	A	T	2: 90,096,639 (GRCm39)	V45E	probably damaging	Het
Or5p81	T	C	7: 108,266,743 (GRCm39)	V40A	possibly damaging	Het
Or6c76	C	T	10: 129,612,142 (GRCm39)	R120C	probably benign	Het
Or7a42	C	A	10: 78,791,676 (GRCm39)	F212L	probably benign	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pgm5	T	G	19: 24,801,693 (GRCm39)	Q178H	probably damaging	Het
Phrf1	C	T	7: 140,838,725 (GRCm39)	T640M	unknown	Het
Pramel34	A	C	5: 93,784,147 (GRCm39)	L439R	probably damaging	Het
Psg18	T	G	7: 18,083,241 (GRCm39)	T305P	probably benign	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,109,895 (GRCm39)	P68T	probably damaging	Het
Smim6	T	C	11: 115,804,371 (GRCm39)	F53L	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trrap	T	A	5: 144,765,410 (GRCm39)	V2523D	probably benign	Het
Vmn1r125	A	G	7: 21,006,818 (GRCm39)	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,240,421 (GRCm39)	F93L	probably damaging	Het
Vmn1r88	A	G	7: 12,912,403 (GRCm39)	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,784,343 (GRCm39)	A735T	probably damaging	Het

Other mutations in Usp9y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5442:Usp9y	UTSW	Y	1,336,467 (GRCm39)	missense	possibly damaging	0.80
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'- TTCAATAACTGTTTCATTGGATGGC -3'
(R):5'- CACATTTAAGCAGTAGTTGTGTTTC -3'

Sequencing Primer
(F):5'- TATGATCACCTACAAACT -3'
(R):5'- TCTCTGTATTGGTTGCATCTTATATG -3'

Posted On

2019-06-07