Incidental Mutation 'R8703:Usp9y'
ID 669175
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission 068557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R8703 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1298961-1459782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 1356317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1128 (L1128P)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect probably damaging
Transcript: ENSMUST00000091188
AA Change: L1128P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: L1128P

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,676,792 (GRCm39) T2013I probably damaging Het
Ak9 A T 10: 41,201,120 (GRCm39) N137Y Het
Apol10b T A 15: 77,472,897 (GRCm39) E52D probably damaging Het
Calr3 A T 8: 73,192,291 (GRCm39) Y128N probably damaging Het
Dnah14 T A 1: 181,493,576 (GRCm39) L1669* probably null Het
Dppa3 A T 6: 122,605,737 (GRCm39) D97V probably damaging Het
Dync1li1 C A 9: 114,552,329 (GRCm39) P490T probably damaging Het
Eya4 A G 10: 23,039,340 (GRCm39) S85P probably benign Het
Fpr-rs4 T A 17: 18,242,332 (GRCm39) I113N probably damaging Het
Fryl T C 5: 73,247,997 (GRCm39) D1040G probably damaging Het
Fsip2 A T 2: 82,821,871 (GRCm39) D5868V probably damaging Het
Gpr75 A C 11: 30,841,890 (GRCm39) Q265P probably damaging Het
Iqcm G T 8: 76,615,271 (GRCm39) G451C probably damaging Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Mcm9 G A 10: 53,506,073 (GRCm39) P67L probably damaging Het
Naalad2 A C 9: 18,290,008 (GRCm39) Y207D probably damaging Het
Nrap C T 19: 56,323,703 (GRCm39) D1325N probably damaging Het
Nup133 A G 8: 124,643,021 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4b1b T A 2: 90,126,837 (GRCm39) I123F probably damaging Het
Or8k28 C A 2: 86,286,244 (GRCm39) V124L possibly damaging Het
Or9i14 G T 19: 13,792,105 (GRCm39) P283H probably damaging Het
Per2 T A 1: 91,351,767 (GRCm39) N913I possibly damaging Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Reps1 C T 10: 17,968,990 (GRCm39) R183C probably damaging Het
Rims1 A T 1: 22,496,137 (GRCm39) C134S Het
Rpl10-ps3 A G 9: 50,256,184 (GRCm39) S20P probably benign Het
Sash1 C A 10: 8,605,595 (GRCm39) G932C probably damaging Het
Sema4d T C 13: 51,854,959 (GRCm39) Q46R Het
Sh3d19 A G 3: 86,014,568 (GRCm39) E453G probably damaging Het
Sirt6 A G 10: 81,461,548 (GRCm39) probably benign Het
Sis A T 3: 72,867,657 (GRCm39) F129L probably damaging Het
Skint5 T A 4: 113,733,207 (GRCm39) I399F unknown Het
Slc22a7 T C 17: 46,744,951 (GRCm39) D365G probably damaging Het
Slc6a12 A G 6: 121,324,447 (GRCm39) M38V probably benign Het
Slc9b2 C A 3: 135,031,924 (GRCm39) Y261* probably null Het
Spata21 A G 4: 140,832,218 (GRCm39) I460V probably benign Het
Tes C G 6: 17,099,788 (GRCm39) P261R probably damaging Het
Tex15 T C 8: 34,062,724 (GRCm39) L718P probably benign Het
Tmem135 G A 7: 88,808,170 (GRCm39) A202V probably benign Het
Usp29 T C 7: 6,964,321 (GRCm39) F55L probably benign Het
Zdhhc5 T C 2: 84,520,596 (GRCm39) E527G probably benign Het
Zfand4 A G 6: 116,250,604 (GRCm39) I11M probably damaging Het
Zfp110 T A 7: 12,582,888 (GRCm39) I512K probably benign Het
Zfp638 T A 6: 83,954,143 (GRCm39) F1416Y 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
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'- TTAGGATCTGTGCCATCTGC -3'
(R):5'- GCCTCCCAAGTGCTATATTTAACAG -3'

Sequencing Primer
(F):5'- TCTGCAACAGGCTGACAAG -3'
(R):5'- TAAGAGGATGCTTAAGATGATAAAGC -3'
Posted On 2021-04-30