Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:Usp9y'

307317

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

MMRRC Submission

040825-MU

Accession Numbers

Essential gene?

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

Stock #

R3938 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 1313741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 2188 (M2188I)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000091188
AA Change: M2188I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: M2188I

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,361,513 (GRCm39)	N659I	probably benign	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,621,536 (GRCm39)	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,209,870 (GRCm39)	T293I	probably benign	Het
Chd5	A	T	4: 152,461,512 (GRCm39)	T1275S	probably benign	Het
Chtf8	A	T	8: 107,612,537 (GRCm39)	M134K	probably benign	Het
Col11a2	A	T	17: 34,258,599 (GRCm39)		probably benign	Het
Cyp8b1	A	G	9: 121,744,684 (GRCm39)	V216A	probably benign	Het
Dnah8	C	T	17: 31,073,911 (GRCm39)	T4527M	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Erap1	T	A	13: 74,816,147 (GRCm39)	L92Q	probably damaging	Het
Exoc3l	G	T	8: 106,020,037 (GRCm39)	P296H	probably damaging	Het
Fcgbpl1	C	T	7: 27,853,719 (GRCm39)	P1561L	probably damaging	Het
Foxl3	A	T	5: 138,806,723 (GRCm39)	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,162 (GRCm39)	N133K	probably benign	Het
Itgax	G	T	7: 127,735,445 (GRCm39)	R504S	possibly damaging	Het
Itgb4	A	G	11: 115,896,752 (GRCm39)	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,735,838 (GRCm39)	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,596,983 (GRCm39)	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga1	G	T	17: 30,076,596 (GRCm39)	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,163,842 (GRCm39)	V466A	possibly damaging	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,531,342 (GRCm39)	L311P	probably damaging	Het
Nup205	A	G	6: 35,196,677 (GRCm39)	R1138G	probably damaging	Het
Nup54	A	G	5: 92,565,388 (GRCm39)	M443T	probably damaging	Het
Peak1	T	C	9: 56,167,649 (GRCm39)	E93G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Poll	A	G	19: 45,546,857 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Pygm	A	T	19: 6,442,980 (GRCm39)	I556F	probably benign	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rcor3	G	T	1: 191,785,385 (GRCm39)	T361K	possibly damaging	Het
Robo4	A	G	9: 37,313,313 (GRCm39)		probably benign	Het
Rps15	T	C	10: 80,129,673 (GRCm39)	V96A	probably benign	Het
Rrm2	T	A	12: 24,759,431 (GRCm39)	N55K	probably damaging	Het
Shank2	T	C	7: 143,682,112 (GRCm39)	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,382,819 (GRCm39)	E3*	probably null	Het
Slc7a8	T	A	14: 54,973,298 (GRCm39)	E223V	probably benign	Het
Snx13	A	G	12: 35,194,096 (GRCm39)	K880E	probably benign	Het
Spinkl	T	G	18: 44,301,216 (GRCm39)	M41L	probably benign	Het
Srp54a	A	C	12: 55,136,042 (GRCm39)	N19T	probably benign	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Sytl1	G	A	4: 132,982,935 (GRCm39)	Q359*	probably null	Het
Tlr6	A	T	5: 65,110,938 (GRCm39)	F656L	probably damaging	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tmem45a2	C	T	16: 56,859,398 (GRCm39)	D278N	probably benign	Het
Trav7-1	T	C	14: 52,892,791 (GRCm39)		probably benign	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,779,882 (GRCm39)		probably benign	Het
Utrn	C	A	10: 12,625,774 (GRCm39)		probably null	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,524,390 (GRCm39)	Y59F	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
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'- TCAAAACGCAACTTGAATCAGAT -3'
(R):5'- GGAGTATAGCCATTTCTATGCAGAT -3'

Sequencing Primer
(F):5'- CTTAGTGCATAACCAATCCGGGTG -3'
(R):5'- GACTGAGTTTTATATGCAACTG -3'

Posted On

2015-04-17