Incidental Mutation 'R9008:Usp9y'
ID 685474
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission 068838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9008 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1298961-1459782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 1434993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 279 (I279L)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000091188
AA Change: I279L

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: I279L

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: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,849,162 (GRCm39) S536R probably damaging Het
Acacb G A 5: 114,386,815 (GRCm39) silent Het
Acsm1 T C 7: 119,258,325 (GRCm39) Y473H probably benign Het
Adam30 T A 3: 98,070,034 (GRCm39) C622* probably null Het
Adprs C T 4: 126,210,632 (GRCm39) V283M probably damaging Het
AI606181 G T 19: 41,582,032 (GRCm39) R67S unknown Het
Btbd3 A G 2: 138,125,453 (GRCm39) I212M probably benign Het
C1s1 C T 6: 124,509,499 (GRCm39) probably null Het
C7 T A 15: 5,040,409 (GRCm39) T539S Het
Cd5l A C 3: 87,275,972 (GRCm39) D314A probably damaging Het
Celsr3 T A 9: 108,706,151 (GRCm39) V878E possibly damaging Het
Cfap74 T C 4: 155,503,121 (GRCm39) S38P Het
Chst2 C T 9: 95,288,347 (GRCm39) probably benign Het
Deaf1 T C 7: 140,904,078 (GRCm39) T103A probably damaging Het
Deup1 T A 9: 15,511,140 (GRCm39) D213V probably damaging Het
Dhrs1 A G 14: 55,978,638 (GRCm39) probably null Het
Dnah7a A G 1: 53,701,501 (GRCm39) V218A possibly damaging Het
Dock7 G A 4: 98,833,448 (GRCm39) Q1950* probably null Het
Ehf G A 2: 103,097,173 (GRCm39) R283W Het
Elovl3 A T 19: 46,123,087 (GRCm39) N221I possibly damaging Het
Gm11938 A T 11: 99,493,966 (GRCm39) V43E probably damaging Het
Hmcn1 T C 1: 150,630,795 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,096 (GRCm39) N115S probably benign Het
Hnrnpr A T 4: 136,056,737 (GRCm39) N246Y probably damaging Het
Itpka A G 2: 119,579,894 (GRCm39) E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,855,211 (GRCm39) probably benign Het
Lcorl A T 5: 45,931,516 (GRCm39) probably benign Het
Lypd9 T A 11: 58,338,209 (GRCm39) E61V probably benign Het
Mgat5 T C 1: 127,407,308 (GRCm39) I658T probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mov10 A G 3: 104,707,332 (GRCm39) Y606H probably benign Het
Naa38 T G 11: 69,287,148 (GRCm39) V76G probably damaging Het
Nelfe C A 17: 35,073,334 (GRCm39) P290T possibly damaging Het
Nfil3 A T 13: 53,121,609 (GRCm39) Y432N probably damaging Het
Nipbl T C 15: 8,356,608 (GRCm39) K1593E probably damaging Het
Nlrc3 G C 16: 3,776,807 (GRCm39) L56V possibly damaging Het
Nlrp1a A T 11: 71,014,735 (GRCm39) F172I possibly damaging Het
Ntn4 T A 10: 93,569,466 (GRCm39) probably benign Het
Nudt2 G A 4: 41,480,288 (GRCm39) R57Q probably damaging Het
Obsl1 A C 1: 75,482,027 (GRCm39) L281W probably benign Het
Olfm4 A T 14: 80,255,607 (GRCm39) N250I unknown Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2m13 T A 16: 19,226,173 (GRCm39) I198F probably benign Het
Or2r2 T C 6: 42,463,903 (GRCm39) S75G probably damaging Het
Or5p50 A G 7: 107,422,628 (GRCm39) I16T possibly damaging Het
Pappa A T 4: 65,074,426 (GRCm39) T327S probably damaging Het
Pcdhb4 T G 18: 37,440,714 (GRCm39) M8R probably benign Het
Phf21b T A 15: 84,671,563 (GRCm39) I444F probably damaging Het
Pkd1l2 A C 8: 117,769,037 (GRCm39) V1205G probably benign Het
Plec T C 15: 76,060,232 (GRCm39) Y3235C probably damaging Het
Pnmt C T 11: 98,278,832 (GRCm39) T266I possibly damaging Het
Ppfia2 T A 10: 106,655,220 (GRCm39) D262E probably benign Het
Rabggta A T 14: 55,955,913 (GRCm39) L448Q probably damaging Het
Rap1gds1 C T 3: 138,661,177 (GRCm39) R449H probably benign Het
Rictor T A 15: 6,801,610 (GRCm39) probably benign Het
Rttn T C 18: 89,027,556 (GRCm39) F557S probably damaging Het
Ryr3 A G 2: 112,465,748 (GRCm39) C4809R probably damaging Het
Sacs A C 14: 61,441,992 (GRCm39) D1346A probably benign Het
Slain1 T A 14: 103,923,191 (GRCm39) S261T probably damaging Het
Slc22a4 C T 11: 53,881,664 (GRCm39) W351* probably null Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Spag17 C T 3: 99,934,942 (GRCm39) S716F possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spg11 C T 2: 121,900,413 (GRCm39) M1546I probably benign Het
Spmip11 T G 15: 98,486,493 (GRCm39) S88A possibly damaging Het
Stac3 C T 10: 127,339,454 (GRCm39) L117F probably damaging Het
Surf6 A G 2: 26,782,536 (GRCm39) W264R probably damaging Het
Taar7e T C 10: 23,913,810 (GRCm39) V100A probably damaging Het
Tenm3 T C 8: 48,795,688 (GRCm39) H534R probably damaging Het
Tinagl1 C A 4: 130,067,823 (GRCm39) R57L probably damaging Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Traf6 A G 2: 101,527,333 (GRCm39) Y361C possibly damaging Het
Ttn A T 2: 76,777,334 (GRCm39) probably benign Het
Ufl1 A T 4: 25,254,778 (GRCm39) Y559* probably null Het
Upk1b A T 16: 38,607,570 (GRCm39) N52K probably damaging Het
Uqcrb A G 13: 67,053,363 (GRCm39) S5P probably benign Het
Use1 A G 8: 71,819,688 (GRCm39) Y3C unknown Het
Vmn1r142 A G 7: 21,862,796 (GRCm39) L222P probably damaging Het
Vmn1r184 A C 7: 25,967,177 (GRCm39) N308H probably benign Het
Vmn2r14 C A 5: 109,367,893 (GRCm39) M366I probably benign Het
Vmn2r73 G T 7: 85,521,904 (GRCm39) S145Y probably damaging Het
Wdfy1 A T 1: 79,692,697 (GRCm39) W207R probably damaging Het
Zbtb38 A T 9: 96,569,100 (GRCm39) N661K probably benign Het
Zkscan3 G T 13: 21,572,383 (GRCm39) H416Q possibly 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
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'- TGCAGTAACAGTAACTCAAGGC -3'
(R):5'- ATCGTTTCACTAGTGGATCAGC -3'

Sequencing Primer
(F):5'- ACAGTAACTCAAGGCAGAAAATATC -3'
(R):5'- CACTAGTGGATCAGCATTAAATGTTC -3'
Posted On 2021-10-11