Incidental Mutation 'R4407:Usp9y'
ID 327745
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission 041689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4407 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 1298961-1459782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 1336375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1500 (I1500V)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect probably benign
Transcript: ENSMUST00000091188
AA Change: I1500V

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: I1500V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (61/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830035A12Rik T C 11: 107,422,881 (GRCm39) noncoding transcript Het
Bbs10 A G 10: 111,135,720 (GRCm39) T278A probably benign Het
Bcl6b A G 11: 70,116,929 (GRCm39) L450P probably damaging Het
Braf T G 6: 39,592,654 (GRCm39) K674Q probably damaging Het
Cep112 C T 11: 108,410,027 (GRCm39) T481I possibly damaging Het
Cep135 T A 5: 76,772,514 (GRCm39) M633K probably benign Het
Cpped1 T C 16: 11,623,285 (GRCm39) Y278C probably damaging Het
Depdc5 T A 5: 33,061,878 (GRCm39) probably null Het
Dolpp1 C T 2: 30,286,464 (GRCm39) A128V possibly damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Fat4 A T 3: 39,012,689 (GRCm39) D2328V probably benign Het
Fbln1 T A 15: 85,115,757 (GRCm39) probably null Het
Fkbp3 T C 12: 65,116,778 (GRCm39) T53A probably damaging Het
Flg2 G T 3: 93,122,176 (GRCm39) G1449C unknown Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glyctk A T 9: 106,034,307 (GRCm39) probably benign Het
Gm6430 T C 1: 96,953,297 (GRCm39) noncoding transcript Het
Golga1 C A 2: 38,909,653 (GRCm39) probably null Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
L3mbtl3 A G 10: 26,189,782 (GRCm39) V494A unknown Het
Lama2 AATCAGACAGGAG A 10: 27,088,124 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,335 (GRCm39) L907Q possibly damaging Het
Lrp2 A T 2: 69,332,861 (GRCm39) V1552D probably damaging Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Mycbp2 A T 14: 103,524,664 (GRCm39) D665E probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Or4p7 A T 2: 88,222,427 (GRCm39) M279L probably benign Het
Pcdhac2 G T 18: 37,277,499 (GRCm39) V160L probably benign Het
Pcnt T C 10: 76,210,704 (GRCm39) E2473G possibly damaging Het
Pitpnm2 T A 5: 124,290,678 (GRCm39) I3L possibly damaging Het
Prkd3 C A 17: 79,290,987 (GRCm39) W176L probably damaging Het
Prpf39 C T 12: 65,103,040 (GRCm39) A438V probably damaging Het
Rpgrip1 T A 14: 52,384,856 (GRCm39) F655I probably damaging Het
Rrp12 T C 19: 41,880,990 (GRCm39) Y147C probably damaging Het
Sec23b A T 2: 144,416,638 (GRCm39) N429Y possibly damaging Het
Slc2a10 T A 2: 165,356,684 (GRCm39) S115T probably damaging Het
Spg11 A C 2: 121,905,813 (GRCm39) D1277E probably benign Het
Sspo A G 6: 48,437,454 (GRCm39) D1279G probably damaging Het
St18 T C 1: 6,898,061 (GRCm39) I621T probably benign Het
Tbc1d31 T A 15: 57,783,438 (GRCm39) D112E possibly damaging Het
Tdpoz6 C A 3: 93,599,419 (GRCm39) V317L probably benign Het
Tgm4 A T 9: 122,885,595 (GRCm39) D379V probably damaging Het
Thyn1 A T 9: 26,914,893 (GRCm39) D15V possibly damaging Het
Timd6 A G 11: 46,468,207 (GRCm39) T94A probably damaging Het
Tm4sf19 T C 16: 32,226,712 (GRCm39) V167A possibly damaging Het
Trim38 A C 13: 23,975,474 (GRCm39) Q471P probably benign Het
Trmt1 T A 8: 85,424,384 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vgll4 C T 6: 114,867,573 (GRCm39) probably null Het
Vmn1r173 T A 7: 23,402,441 (GRCm39) N225K probably damaging Het
Vmn2r22 C T 6: 123,614,913 (GRCm39) G226R probably damaging Het
Wnk3 C A X: 150,016,209 (GRCm39) P555Q probably benign Het
Yes1 T G 5: 32,797,929 (GRCm39) Y83D possibly damaging Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* probably null 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
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
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'- AAGTTAATACCAGTGATGCATTCAG -3'
(R):5'- GAGATTTTCTGTCTTCAAATACCGC -3'

Sequencing Primer
(F):5'- CTAGTTACTGGTGTGCCTATG -3'
(R):5'- ATTCTTTCGATTTTGCTTTGTAAGTC -3'
Posted On 2015-07-07