Mutagenetix > Incidental Mutation

Incidental Mutation 'R7374:Usp9y'

572303

Institutional Source

Beutler Lab

Gene Symbol

Usp9y

Ensembl Gene

ENSMUSG00000069044

Gene Name

ubiquitin specific peptidase 9, Y chromosome

Synonyms

Fafl2, Dffry

MMRRC Submission

045457-MU

Accession Numbers

Essential gene?

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

Stock #

R7374 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

1298961-1459782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 1381305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 839 (I839V)

Ref Sequence

ENSEMBL: ENSMUSP00000088727 (fasta)

Gene Model

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

AlphaFold

F8VPU6

Predicted Effect

probably benign
Transcript: ENSMUST00000091188
AA Change: I839V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: I839V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,242,136 (GRCm39)	T1333I	possibly damaging	Het
Abcd4	A	T	12: 84,653,017 (GRCm39)	L395*	probably null	Het
Cdh23	G	A	10: 60,153,679 (GRCm39)	R2304W	probably damaging	Het
Ckap2l	T	C	2: 129,126,883 (GRCm39)	T432A	probably damaging	Het
Cplane1	T	A	15: 8,276,731 (GRCm39)	W2792R	unknown	Het
Cyp2c68	T	C	19: 39,727,648 (GRCm39)		probably null	Het
Ddx51	C	A	5: 110,804,998 (GRCm39)	T580K	probably damaging	Het
Fbxo44	T	A	4: 148,241,094 (GRCm39)	D112V	probably benign	Het
Ffar2	T	C	7: 30,519,465 (GRCm39)	N25S	probably damaging	Het
Gas6	A	T	8: 13,524,802 (GRCm39)	V330D	probably damaging	Het
Gfpt1	A	G	6: 87,027,959 (GRCm39)	T22A	probably benign	Het
Gm3371	A	G	14: 44,641,240 (GRCm39)	V108A		Het
Gm8257	T	C	14: 44,887,740 (GRCm39)	E215G	probably benign	Het
Gria1	T	A	11: 57,080,634 (GRCm39)	S206T	probably benign	Het
Gria2	T	C	3: 80,648,383 (GRCm39)	T118A	probably benign	Het
Hfe	T	G	13: 23,890,030 (GRCm39)	T248P	probably damaging	Het
Kdm5d	T	C	Y: 941,491 (GRCm39)	W1231R	probably benign	Het
Ltbp2	C	T	12: 84,876,949 (GRCm39)	D419N	probably damaging	Het
Mei1	G	A	15: 81,980,109 (GRCm39)	A232T		Het
Mgam	G	A	6: 40,734,373 (GRCm39)	E1473K	possibly damaging	Het
Mtbp	A	C	15: 55,426,355 (GRCm39)	E99A	possibly damaging	Het
Muc5b	A	T	7: 141,416,863 (GRCm39)	T3270S	probably benign	Het
Myl2	A	G	5: 122,239,726 (GRCm39)	Y28C		Het
Nrxn1	A	G	17: 90,896,097 (GRCm39)		probably null	Het
Ntn4	A	G	10: 93,518,434 (GRCm39)	H247R	probably benign	Het
Numa1	T	C	7: 101,658,335 (GRCm39)	V1568A	probably benign	Het
Nyap1	C	T	5: 137,733,791 (GRCm39)	G414D	probably damaging	Het
Or5p68	A	G	7: 107,946,095 (GRCm39)	F31S	probably damaging	Het
Or8k25	C	A	2: 86,244,196 (GRCm39)	A67S	probably benign	Het
Pdgfrb	G	A	18: 61,204,780 (GRCm39)	V547I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,962 (GRCm39)	M223L	probably benign	Het
Prps1l1	T	C	12: 35,035,424 (GRCm39)	S180P	possibly damaging	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Radil	G	A	5: 142,471,235 (GRCm39)	R1014W	probably damaging	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Rhbdl2	G	C	4: 123,711,658 (GRCm39)	V132L	probably benign	Het
Slc15a2	G	T	16: 36,572,207 (GRCm39)	T719K	probably benign	Het
Slc9a9	A	G	9: 94,937,542 (GRCm39)	T465A	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sv2a	A	T	3: 96,095,525 (GRCm39)	Y306F	probably benign	Het
Sv2c	A	T	13: 96,125,644 (GRCm39)	H364Q	probably damaging	Het
Tmem181a	T	A	17: 6,354,533 (GRCm39)	L401Q	possibly damaging	Het
Trav9d-4	A	G	14: 53,221,300 (GRCm39)	Y98C	probably damaging	Het
Trim33	T	A	3: 103,217,639 (GRCm39)	C195S	probably damaging	Het
Uroc1	T	C	6: 90,315,815 (GRCm39)	Y191H	probably damaging	Het
Vmn1r52	A	T	6: 90,156,118 (GRCm39)	I141F	probably benign	Het
Vmn1r59	T	C	7: 5,457,160 (GRCm39)	H200R	probably damaging	Het
Vmn2r68	A	T	7: 84,881,607 (GRCm39)	M491K	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,630 (GRCm39)	I239V	probably benign	Het
Wrn	A	C	8: 33,758,939 (GRCm39)	C1006W	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
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
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'- ACTCACAGTTTGCTAAATAACTCTAGG -3'
(R):5'- AGAATATTGAAGAGTTAGTGCTTGG -3'

Sequencing Primer
(F):5'- GGTAGAATCATCCTTTCCTCA -3'
(R):5'- AACTTTGTATGCCCCAGTACAGG -3'

Posted On

2019-09-13