Incidental Mutation 'R6265:Usp9y'
ID 506983
Institutional Source Beutler Lab
Gene Symbol Usp9y
Ensembl Gene ENSMUSG00000069044
Gene Name ubiquitin specific peptidase 9, Y chromosome
Synonyms Fafl2, Dffry
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6265 (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 T at 1446843 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 103 (D103E)
Ref Sequence ENSEMBL: ENSMUSP00000088727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091188]
AlphaFold F8VPU6
Predicted Effect probably benign
Transcript: ENSMUST00000091188
AA Change: D103E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: D103E

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,181,986 (GRCm39) P47L probably damaging Het
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Asb3 C A 11: 31,035,143 (GRCm39) Q462K probably benign Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Atp7b G A 8: 22,505,943 (GRCm39) Q520* probably null Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Nlrp9b T A 7: 19,796,608 (GRCm39) F986I probably benign Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q 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
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'- TTGCTCTTGTGAGTGAATGCCC -3'
(R):5'- CACAGAAGGATGTTACTTGGCAAC -3'

Sequencing Primer
(F):5'- GAATGCCCATGTATATAAAGTTAGCC -3'
(R):5'- GGCAACATTTTTCCTTAAAACTATGG -3'
Posted On 2018-03-15