Incidental Mutation 'R9332:Usp9y'
ID 706963
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9332 (G1)
Quality Score 221.999
Status Not validated
Chromosome Y
Chromosomal Location 1298961-1459782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 1341873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1331 (R1331W)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect probably damaging
Transcript: ENSMUST00000091188
AA Change: R1331W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: R1331W

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T G 13: 112,459,677 (GRCm39) D90E probably damaging Het
Arid1b C A 17: 5,045,584 (GRCm39) P124Q unknown Het
Atxn2 C T 5: 121,923,425 (GRCm39) P698L probably damaging Het
Bend7 T C 2: 4,757,531 (GRCm39) V191A probably benign Het
Bltp1 G A 3: 37,104,989 (GRCm39) D1485N Het
C2cd4a T G 9: 67,738,779 (GRCm39) H88P probably damaging Het
Cacna1s C T 1: 136,020,452 (GRCm39) Q830* probably null Het
Camta1 T C 4: 151,228,474 (GRCm39) E786G possibly damaging Het
Caprin1 A G 2: 103,603,390 (GRCm39) S443P probably benign Het
Cass4 T G 2: 172,269,806 (GRCm39) F629L probably benign Het
Ccdc149 T A 5: 52,562,399 (GRCm39) D209V probably damaging Het
Ccdc150 T C 1: 54,316,910 (GRCm39) V263A probably damaging Het
Cfc1 C T 1: 34,576,453 (GRCm39) R145C probably damaging Het
Cnn1 C A 9: 22,019,350 (GRCm39) D239E probably damaging Het
Cobll1 C T 2: 64,933,516 (GRCm39) S493N probably benign Het
Cox20 A T 1: 178,146,771 (GRCm39) K13* probably null Het
Dclk1 G A 3: 55,370,500 (GRCm39) S340N probably damaging Het
Dennd2c T A 3: 103,038,877 (GRCm39) D8E probably benign Het
Dnajc10 A T 2: 80,175,327 (GRCm39) K571N probably benign Het
Dock7 T A 4: 98,896,280 (GRCm39) I58F Het
Dpy19l4 A G 4: 11,304,298 (GRCm39) probably null Het
Eef2k A G 7: 120,483,918 (GRCm39) D218G probably benign Het
Eya4 G T 10: 22,989,845 (GRCm39) T504K probably damaging Het
Fam222a T C 5: 114,749,398 (GRCm39) I198T probably damaging Het
Fbxw10 T A 11: 62,748,585 (GRCm39) F404Y probably benign Het
Fbxw24 A T 9: 109,452,681 (GRCm39) Y105N probably damaging Het
Fzd10 T G 5: 128,678,316 (GRCm39) L12R possibly damaging Het
Gm14443 A G 2: 175,017,610 (GRCm39) probably benign Het
Gm21028 A T 7: 42,227,904 (GRCm39) C37S probably damaging Het
Gpr179 G T 11: 97,229,551 (GRCm39) A868E probably damaging Het
Greb1l T A 18: 10,532,796 (GRCm39) Y897N possibly damaging Het
Grid1 A T 14: 35,045,360 (GRCm39) Y401F probably benign Het
Heatr5a G A 12: 51,946,068 (GRCm39) T1181I probably benign Het
Herc4 G A 10: 63,144,125 (GRCm39) V753I probably damaging Het
Htra1 A T 7: 130,563,851 (GRCm39) K241* probably null Het
Kat6b A G 14: 21,720,093 (GRCm39) I1482V probably benign Het
Kif19a G T 11: 114,680,033 (GRCm39) R790L possibly damaging Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lpcat1 T C 13: 73,659,462 (GRCm39) L408S probably damaging Het
Lrrc69 T A 4: 14,774,987 (GRCm39) R94W probably damaging Het
Map4 A G 9: 109,864,223 (GRCm39) T483A probably benign Het
Mettl3 C A 14: 52,534,125 (GRCm39) C483F probably damaging Het
Myh13 A G 11: 67,254,109 (GRCm39) D1543G possibly damaging Het
Myh2 G A 11: 67,070,209 (GRCm39) V414I probably damaging Het
Myh7b C T 2: 155,470,722 (GRCm39) R1057C probably damaging Het
Myo9b A G 8: 71,812,246 (GRCm39) S2006G probably benign Het
Nelfcd A G 2: 174,264,978 (GRCm39) K239R probably benign Het
Nlrp4a T C 7: 26,159,077 (GRCm39) S786P probably damaging Het
Or5g23 T A 2: 85,438,331 (GRCm39) K308* probably null Het
Or6c205 A G 10: 129,086,972 (GRCm39) T190A probably damaging Het
Pdzrn4 G T 15: 92,295,216 (GRCm39) V141L probably benign Het
Phip G T 9: 82,757,412 (GRCm39) R1587S probably damaging Het
Plce1 A G 19: 38,726,377 (GRCm39) E1448G probably damaging Het
Plrg1 T C 3: 82,976,308 (GRCm39) S326P possibly damaging Het
Pom121l2 T A 13: 22,165,852 (GRCm39) V41E probably damaging Het
Pramel17 C T 4: 101,695,144 (GRCm39) V56M probably damaging Het
Preb G T 5: 31,113,673 (GRCm39) S311* probably null Het
Prss33 T A 17: 24,053,723 (GRCm39) D118V probably damaging Het
Pum1 C A 4: 130,499,209 (GRCm39) Y1008* probably null Het
Rassf2 G A 2: 131,846,326 (GRCm39) R144C probably damaging Het
Rnf123 A T 9: 107,944,704 (GRCm39) M429K probably benign Het
Rtl1 T A 12: 109,557,291 (GRCm39) H1516L probably benign Het
Scyl3 T A 1: 163,764,007 (GRCm39) N124K probably damaging Het
Sec24b A G 3: 129,801,220 (GRCm39) S488P probably benign Het
Shc4 T A 2: 125,520,618 (GRCm39) D277V probably damaging Het
Sorl1 T A 9: 41,912,814 (GRCm39) D1389V probably damaging Het
Srcap T A 7: 127,158,812 (GRCm39) I2896N unknown Het
Steap3 T A 1: 120,155,564 (GRCm39) Y465F probably benign Het
Tecta C A 9: 42,284,193 (GRCm39) C964F probably damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem178b G A 6: 39,981,181 (GRCm39) W72* probably null Het
Tmem235 T G 11: 117,751,665 (GRCm39) Y30D probably damaging Het
Tpst1 C A 5: 130,163,301 (GRCm39) T366K probably benign Het
Trdv2-1 C A 14: 54,183,848 (GRCm39) P27T probably benign Het
Trim37 G T 11: 87,058,328 (GRCm39) L335F possibly damaging Het
Vmn1r1 T G 1: 181,985,002 (GRCm39) H221P probably damaging Het
Vmn2r6 A T 3: 64,454,671 (GRCm39) S543T probably benign Het
Wdpcp C T 11: 21,661,522 (GRCm39) P265S probably benign Het
Wdr64 T C 1: 175,599,871 (GRCm39) L566P possibly damaging Het
Zfp248 A G 6: 118,405,891 (GRCm39) I566T possibly damaging Het
Zfp595 T A 13: 67,465,463 (GRCm39) I270F probably damaging Het
Zfp715 A G 7: 42,948,847 (GRCm39) L371P probably damaging Het
Other mutations in Usp9y
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTTAGCTGCACCCTGAAATATAAAGAC -3'
(R):5'- TTTGGGGATAGCATTTGAAACG -3'

Sequencing Primer
(F):5'- GTGCTCAGTACTGATTTAACTGTC -3'
(R):5'- TGGGGATAGCATTTGAAACGTAAATG -3'
Posted On 2022-04-18