Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Usp9y'

507558

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

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

Stock #

R6274 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 1316735 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Arginine to Histidine at position 1938 (R1938H)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000091188
AA Change: R1938H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: R1938H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,172,600 (GRCm39)	S528T	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,258,354 (GRCm39)	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,771,243 (GRCm39)	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,343,832 (GRCm39)	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,016,783 (GRCm39)	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,210,161 (GRCm39)	V138A	probably damaging	Het
Cep290	A	G	10: 100,366,069 (GRCm39)	E1099G	probably damaging	Het
Cers1	T	A	8: 70,783,727 (GRCm39)	L225Q	probably damaging	Het
Cfb	T	C	17: 35,081,069 (GRCm39)	Q7R	probably benign	Het
Clk4	A	G	11: 51,162,748 (GRCm39)	S98G	possibly damaging	Het
Clock	A	G	5: 76,385,000 (GRCm39)	S406P	probably benign	Het
Csmd3	T	C	15: 47,484,833 (GRCm39)	I3178V	probably benign	Het
Dock10	A	G	1: 80,516,540 (GRCm39)	S1397P	probably damaging	Het
Fer1l4	A	G	2: 155,871,188 (GRCm39)	L1421P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Greb1	G	T	12: 16,785,152 (GRCm39)	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,653,388 (GRCm39)	C336S	probably damaging	Het
Hdac1	A	G	4: 129,412,902 (GRCm39)	C261R	probably damaging	Het
Htt	T	C	5: 35,009,431 (GRCm39)	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,742,958 (GRCm39)	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,718,961 (GRCm39)	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180 (GRCm38)	V112I	probably benign	Het
Kif21b	A	G	1: 136,077,156 (GRCm39)	I393V	possibly damaging	Het
Krt74	T	C	15: 101,671,872 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,809 (GRCm39)	N24S	probably null	Het
Mmut	T	C	17: 41,267,136 (GRCm39)	V570A	probably benign	Het
Myh7	T	C	14: 55,216,943 (GRCm39)	D1138G	probably damaging	Het
Nktr	T	C	9: 121,560,631 (GRCm39)	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,320,554 (GRCm39)	L861Q	probably damaging	Het
Notch3	C	A	17: 32,366,264 (GRCm39)	R990L	probably benign	Het
Nrap	T	C	19: 56,350,153 (GRCm39)	D655G	probably benign	Het
Or10ak8	A	T	4: 118,774,427 (GRCm39)	V79E	probably benign	Het
Or5b99	G	A	19: 12,977,234 (GRCm39)	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,047,426 (GRCm39)	I463N	probably damaging	Het
Pcsk6	A	T	7: 65,683,592 (GRCm39)	R749W	probably damaging	Het
Plaat5	C	T	19: 7,614,831 (GRCm39)	T231I	probably damaging	Het
Plxnb1	T	C	9: 108,941,209 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,931,874 (GRCm39)		probably null	Het
Ppm1g	T	C	5: 31,363,750 (GRCm39)	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,096,751 (GRCm39)	S191P	probably benign	Het
Prodh	T	C	16: 17,898,922 (GRCm39)	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,607,911 (GRCm39)	V103A	possibly damaging	Het
Sap18b	C	T	8: 96,552,169 (GRCm39)	H60Y	probably benign	Het
Sclt1	A	G	3: 41,583,951 (GRCm39)		probably null	Het
Serpinb1a	G	T	13: 33,026,849 (GRCm39)	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,623,231 (GRCm39)	Q107*	probably null	Het
Sipa1l2	C	T	8: 126,196,611 (GRCm39)	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Uaca	T	A	9: 60,757,573 (GRCm39)		probably null	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Wnk4	C	T	11: 101,156,257 (GRCm39)	R42W	probably damaging	Het
Zfp326	T	A	5: 106,053,846 (GRCm39)	L242Q	probably damaging	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
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
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'- CAGGAATTGCACATTCTGTTTCC -3'
(R):5'- AAATATCGACTTGTTGGTGTGC -3'

Sequencing Primer
(F):5'- CATACACTTCTCTCAATGGCTGGTG -3'
(R):5'- GCTTGTACACAGTGGTCAAGC -3'

Posted On

2018-03-15