Incidental Mutation 'IGL01893:Orc6'
ID 179309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orc6
Ensembl Gene ENSMUSG00000031697
Gene Name origin recognition complex, subunit 6
Synonyms 6720420I10Rik, Orc6l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01893
Quality Score
Status
Chromosome 8
Chromosomal Location 86026261-86034907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86034272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 165 (D165G)
Ref Sequence ENSEMBL: ENSMUSP00000126925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034132] [ENSMUST00000170141] [ENSMUST00000210146] [ENSMUST00000211396] [ENSMUST00000211597]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034132
AA Change: D241G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: D241G

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170141
AA Change: D165G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: D165G

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000210146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210458
Predicted Effect probably benign
Transcript: ENSMUST00000211396
Predicted Effect probably benign
Transcript: ENSMUST00000211597
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cast T A 13: 74,875,408 (GRCm39) K480* probably null Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Drosha T C 15: 12,866,736 (GRCm39) probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Lsr A T 7: 30,661,657 (GRCm39) V210E possibly damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mettl16 A T 11: 74,696,097 (GRCm39) T273S possibly damaging Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tbx19 A T 1: 164,967,767 (GRCm39) S327T possibly damaging Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G probably damaging Het
Other mutations in Orc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Orc6 APN 8 86,029,998 (GRCm39) missense probably damaging 1.00
IGL02713:Orc6 APN 8 86,034,215 (GRCm39) missense probably benign 0.00
IGL02997:Orc6 APN 8 86,032,837 (GRCm39) unclassified probably benign
R0685:Orc6 UTSW 8 86,027,783 (GRCm39) missense possibly damaging 0.93
R1667:Orc6 UTSW 8 86,031,914 (GRCm39) missense possibly damaging 0.94
R3619:Orc6 UTSW 8 86,026,623 (GRCm39) critical splice donor site probably null
R3810:Orc6 UTSW 8 86,026,613 (GRCm39) missense probably benign 0.05
R4707:Orc6 UTSW 8 86,029,579 (GRCm39) missense probably damaging 1.00
R4784:Orc6 UTSW 8 86,029,579 (GRCm39) missense probably damaging 1.00
R5743:Orc6 UTSW 8 86,029,585 (GRCm39) missense probably benign 0.02
R7062:Orc6 UTSW 8 86,029,537 (GRCm39) missense probably damaging 1.00
R7199:Orc6 UTSW 8 86,029,590 (GRCm39) critical splice donor site probably null
R7803:Orc6 UTSW 8 86,030,037 (GRCm39) missense possibly damaging 0.77
R7880:Orc6 UTSW 8 86,031,873 (GRCm39) missense probably benign 0.01
R9512:Orc6 UTSW 8 86,029,522 (GRCm39) missense
R9521:Orc6 UTSW 8 86,026,615 (GRCm39) missense possibly damaging 0.95
R9620:Orc6 UTSW 8 86,026,430 (GRCm39) start gained probably benign
Y5406:Orc6 UTSW 8 86,034,302 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07