Mutagenetix > Incidental Mutation

Incidental Mutation 'R4457:Usp9y'

329980

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

MMRRC Submission

041717-MU

Accession Numbers

Essential gene?

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

Stock #

R4457 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 1394078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 551 (I551L)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091188
AA Change: I551L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: I551L

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (62/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	G	16: 90,351,260 (GRCm39)		noncoding transcript	Het
1700025G04Rik	T	C	1: 151,796,805 (GRCm39)	R87G	probably damaging	Het
9030619P08Rik	T	A	15: 75,303,249 (GRCm39)		noncoding transcript	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Arhgef5	T	C	6: 43,251,027 (GRCm39)	S593P	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cfap73	T	C	5: 120,768,215 (GRCm39)	K181R	possibly damaging	Het
Chn1	A	G	2: 73,443,427 (GRCm39)	I383T	probably damaging	Het
Cmtr2	A	G	8: 110,948,884 (GRCm39)	D398G	probably benign	Het
Dnah12	T	C	14: 26,537,464 (GRCm39)	Y2238H	probably damaging	Het
Dnah7c	A	G	1: 46,779,781 (GRCm39)	N3161S	probably damaging	Het
Dnah8	C	A	17: 31,032,125 (GRCm39)	H4148Q	probably benign	Het
Ehbp1l1	T	C	19: 5,766,321 (GRCm39)	S397G	possibly damaging	Het
Eya4	A	T	10: 22,992,566 (GRCm39)	S462R	probably damaging	Het
Fam227b	T	A	2: 125,988,188 (GRCm39)		probably benign	Het
Frrs1	G	A	3: 116,690,377 (GRCm39)	V7I	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gja10	A	T	4: 32,601,073 (GRCm39)	M437K	probably benign	Het
Gm2840	T	G	5: 96,322,187 (GRCm39)		noncoding transcript	Het
Gm4956	A	G	1: 21,368,319 (GRCm39)		noncoding transcript	Het
Gria4	A	G	9: 4,427,074 (GRCm39)	W789R	probably damaging	Het
Hoxb5	A	G	11: 96,194,546 (GRCm39)	D36G	probably damaging	Het
Hps5	A	T	7: 46,433,037 (GRCm39)	C228S	probably benign	Het
Hspa4	A	T	11: 53,171,395 (GRCm39)	C270S	probably damaging	Het
Htra4	C	A	8: 25,528,674 (GRCm39)	A73S	possibly damaging	Het
Ikzf2	T	C	1: 69,723,347 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,673 (GRCm39)	H131Y	probably benign	Het
Kat6a	A	G	8: 23,422,129 (GRCm39)		probably null	Het
Lamp3	T	A	16: 19,492,279 (GRCm39)	M322L	probably benign	Het
Letmd1	T	C	15: 100,373,011 (GRCm39)	V37A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh1	G	A	11: 67,111,441 (GRCm39)	G1627R	probably benign	Het
Myo9b	A	G	8: 71,743,643 (GRCm39)	I235V	probably damaging	Het
Ndor1	A	G	2: 25,138,128 (GRCm39)		probably null	Het
Ndufa12	A	T	10: 94,056,680 (GRCm39)	K136M	probably damaging	Het
Or2t49	A	G	11: 58,392,944 (GRCm39)	L146P	probably damaging	Het
Or4a78	A	T	2: 89,497,427 (GRCm39)	S268T	probably benign	Het
Or51g2	C	T	7: 102,622,734 (GRCm39)	S155N	probably damaging	Het
Or5d44	A	G	2: 88,141,173 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,073,599 (GRCm39)	D410G	probably damaging	Het
Pcyox1l	T	A	18: 61,830,939 (GRCm39)	N311I	probably benign	Het
Pif1	A	G	9: 65,495,058 (GRCm39)		probably benign	Het
Pkp1	CTCTTCTT	CTCTT	1: 135,803,362 (GRCm39)		probably null	Het
Pogz	G	A	3: 94,763,374 (GRCm39)	V49I	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sgms2	A	C	3: 131,118,665 (GRCm39)	Y273D	probably damaging	Het
Slc25a10	G	A	11: 120,387,915 (GRCm39)	V203I	probably benign	Het
Slc4a2	T	A	5: 24,639,328 (GRCm39)		probably benign	Het
Tbc1d13	A	G	2: 30,025,450 (GRCm39)		probably benign	Het
Tdrd7	A	G	4: 46,007,526 (GRCm39)	N526S	probably benign	Het
Tet2	C	T	3: 133,191,324 (GRCm39)	D1037N	possibly damaging	Het
Thrb	T	A	14: 18,011,187 (GRCm38)	W188R	probably damaging	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Vwde	T	C	6: 13,196,100 (GRCm39)	I308M	probably damaging	Het
Zan	T	C	5: 137,409,778 (GRCm39)	I3488V	unknown	Het
Zgrf1	A	T	3: 127,389,578 (GRCm39)	I375F	probably damaging	Het
Zic4	A	G	9: 91,261,315 (GRCm39)	K183R	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
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'- CCTTAGGGTTTGCTAATAATTAGAGGC -3'
(R):5'- CCTGCTTGGGAAACTCTATGC -3'

Sequencing Primer
(F):5'- GAGGTGCTTCACCAAACA -3'
(R):5'- CTGCTTGGGAAACTCTATGCTACAG -3'

Posted On

2015-07-21