Incidental Mutation 'IGL02852:Uba1y'
ID361951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uba1y
Ensembl Gene ENSMUSG00000069053
Gene Nameubiquitin-activating enzyme, Chr Y
SynonymsA1s9Y-1, Ube1y-1, Sby, Ube-2, Ube1y1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL02852
Quality Score
Status
ChromosomeY
Chromosomal Location818649-844224 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 828841 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 550 (R550*)
Ref Sequence ENSEMBL: ENSMUSP00000140543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115894] [ENSMUST00000190013]
Predicted Effect probably null
Transcript: ENSMUST00000115894
AA Change: R550*
SMART Domains Protein: ENSMUSP00000111560
Gene: ENSMUSG00000069053
AA Change: R550*

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:ThiF 54 448 2.5e-44 PFAM
Pfam:E1_FCCH 226 296 1.1e-34 PFAM
Pfam:E1_4HB 297 365 3.5e-29 PFAM
Pfam:UBA_e1_thiolCys 637 884 9.1e-95 PFAM
low complexity region 890 901 N/A INTRINSIC
UBA_e1_C 922 1053 1.72e-73 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190013
AA Change: R550*
SMART Domains Protein: ENSMUSP00000140543
Gene: ENSMUSG00000069053
AA Change: R550*

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:ThiF 70 201 3.2e-18 PFAM
Pfam:ThiF 466 610 2.9e-36 PFAM
Pfam:UBA_e1_thiolCys 612 656 7.7e-25 PFAM
Pfam:UBACT 752 818 6.3e-13 PFAM
Pfam:UBACT 848 916 2.1e-30 PFAM
UBA_e1_C 922 1053 1.72e-73 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm14226 G A 2: 155,024,921 S266N possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Gucy1a2 A G 9: 3,759,691 D499G probably benign Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Rnf39 T C 17: 36,945,202 probably benign Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Sqle A T 15: 59,326,071 H380L probably damaging Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Ubqln4 T C 3: 88,555,471 V81A probably damaging Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Uba1y
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0532:Uba1y UTSW Y 820911 missense probably benign 0.28
R1532:Uba1y UTSW Y 828862 missense probably benign 0.44
R1590:Uba1y UTSW Y 826893 missense probably damaging 1.00
R4668:Uba1y UTSW Y 826032 missense possibly damaging 0.95
R4801:Uba1y UTSW Y 825890 splice site probably null
R4802:Uba1y UTSW Y 825890 splice site probably null
R5101:Uba1y UTSW Y 821447 splice site probably null
R6151:Uba1y UTSW Y 825984 missense probably benign 0.01
R6577:Uba1y UTSW Y 825465 missense probably benign 0.39
R6901:Uba1y UTSW Y 825496 missense probably benign 0.03
R7186:Uba1y UTSW Y 825537 missense probably benign
R7263:Uba1y UTSW Y 822200 missense possibly damaging 0.85
R7305:Uba1y UTSW Y 821348 missense probably damaging 1.00
R7519:Uba1y UTSW Y 821567 missense probably benign 0.44
R7873:Uba1y UTSW Y 825542 missense probably benign
R7956:Uba1y UTSW Y 825542 missense probably benign
Posted On2015-12-18