Incidental Mutation 'R5920:Usp9y'
ID 461547
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission 044117-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5920 (G1)
Quality Score 222
Status Not validated
Chromosome Y
Chromosomal Location 1298961-1459782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 1316730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1940 (S1940P)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect probably damaging
Transcript: ENSMUST00000091188
AA Change: S1940P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: S1940P

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: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,164,091 (GRCm39) K31E probably damaging Het
Ak9 T A 10: 41,296,672 (GRCm39) C1473S probably benign Het
Aox1 T C 1: 58,088,631 (GRCm39) L139S probably damaging Het
Arhgap45 T A 10: 79,864,965 (GRCm39) V849D possibly damaging Het
Atp13a1 G A 8: 70,252,746 (GRCm39) E689K probably benign Het
Calcr G A 6: 3,722,994 (GRCm39) R11W probably damaging Het
Casd1 T A 6: 4,641,853 (GRCm39) L710Q probably null Het
Cenpc1 T A 5: 86,168,769 (GRCm39) T743S probably benign Het
Cfap43 A G 19: 47,749,335 (GRCm39) V1185A possibly damaging Het
Chd2 A G 7: 73,187,060 (GRCm39) L33P probably damaging Het
Col24a1 G T 3: 145,133,985 (GRCm39) G889C probably damaging Het
Cracdl T A 1: 37,677,062 (GRCm39) K40M probably damaging Het
Dbh T C 2: 27,067,243 (GRCm39) probably benign Het
Dcdc2c T C 12: 28,585,536 (GRCm39) I154V possibly damaging Het
Eif2b5 G T 16: 20,317,694 (GRCm39) A11S unknown Het
Frmd4a T G 2: 4,337,927 (GRCm39) N44K probably benign Het
Fsip2 C T 2: 82,818,852 (GRCm39) Q4862* probably null Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hspg2 A T 4: 137,281,093 (GRCm39) D3355V probably damaging Het
Ift56 A G 6: 38,389,005 (GRCm39) Y430C probably damaging Het
Il16 G A 7: 83,301,552 (GRCm39) T190I probably benign Het
Immt T A 6: 71,840,180 (GRCm39) V319D probably benign Het
Kdm2b G C 5: 123,018,359 (GRCm39) S989W probably damaging Het
Kmt2e A G 5: 23,704,440 (GRCm39) E1211G possibly damaging Het
Ktn1 G T 14: 47,961,481 (GRCm39) G1061* probably null Het
Mast3 T C 8: 71,240,577 (GRCm39) I287V probably benign Het
Mrgpre T A 7: 143,335,465 (GRCm39) T13S probably benign Het
Myoc C T 1: 162,467,128 (GRCm39) A99V probably benign Het
Or10a49 C A 7: 108,467,895 (GRCm39) M155I probably benign Het
Otulinl T A 15: 27,664,442 (GRCm39) R109S possibly damaging Het
Per3 G A 4: 151,096,907 (GRCm39) P873S probably benign Het
Phykpl A C 11: 51,493,622 (GRCm39) E453A probably benign Het
Pkd2l2 A T 18: 34,563,826 (GRCm39) I514L probably benign Het
Plcl2 G T 17: 50,915,703 (GRCm39) R904L probably damaging Het
Ptpn1 A G 2: 167,813,668 (GRCm39) D137G probably benign Het
Rasal3 G A 17: 32,614,143 (GRCm39) P571S probably damaging Het
Sdha A G 13: 74,475,044 (GRCm39) probably null Het
Tbc1d31 C A 15: 57,805,954 (GRCm39) Q439K probably benign Het
Ttc12 T C 9: 49,364,633 (GRCm39) D381G possibly damaging Het
Uaca T A 9: 60,776,885 (GRCm39) M424K probably benign Het
Usp33 G T 3: 152,080,320 (GRCm39) A484S probably damaging Het
Zfp532 G A 18: 65,777,421 (GRCm39) V893I probably benign 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
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'- GGAATTGCACATTCTGTTTCCATAC -3'
(R):5'- AGTGTCATACCAGGAAGCAC -3'

Sequencing Primer
(F):5'- ATACACTTCTCTCAATGGCTGGTGAC -3'
(R):5'- GCTTGTACACAGTGGTCAAGC -3'
Posted On 2017-02-28