Incidental Mutation 'IGL02531:Orc6'
ID 297301
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 # IGL02531
Quality Score
Status
Chromosome 8
Chromosomal Location 86026261-86034907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86029998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 47 (S47P)
Ref Sequence ENSEMBL: ENSMUSP00000126925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034131] [ENSMUST00000034132] [ENSMUST00000170141] [ENSMUST00000210146] [ENSMUST00000211396] [ENSMUST00000211597]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034131
SMART Domains Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696

DomainStartEndE-ValueType
Pfam:Vps35 15 753 6.8e-303 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000034132
AA Change: S123P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: S123P

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170141
AA Change: S47P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: S47P

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209733
Predicted Effect probably damaging
Transcript: ENSMUST00000210146
AA Change: S123P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000211396
AA Change: S157P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211597
AA Change: S123P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210458
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,933,429 (GRCm39) H467N unknown Het
Alb A G 5: 90,615,307 (GRCm39) D273G probably damaging Het
Arap3 A G 18: 38,122,804 (GRCm39) S531P probably damaging Het
Bmpr2 T A 1: 59,884,873 (GRCm39) probably null Het
Cfhr4 T C 1: 139,702,307 (GRCm39) K59R probably benign Het
Chd7 G A 4: 8,854,134 (GRCm39) R1902H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b13 A T 7: 25,761,030 (GRCm39) H29L possibly damaging Het
Enpp5 G T 17: 44,391,843 (GRCm39) V91F probably damaging Het
Fam210b T C 2: 172,194,675 (GRCm39) Y176H probably damaging Het
Fam83b T C 9: 76,399,282 (GRCm39) E607G possibly damaging Het
Hhla1 C T 15: 65,839,256 (GRCm39) probably benign Het
Kdm3b A G 18: 34,928,782 (GRCm39) T178A probably benign Het
Klf1 T A 8: 85,631,437 (GRCm39) F334I probably damaging Het
Klra8 A G 6: 130,095,933 (GRCm39) S220P possibly damaging Het
Medag A G 5: 149,345,616 (GRCm39) N99S probably benign Het
Muc6 T C 7: 141,216,853 (GRCm39) T2607A possibly damaging Het
Mug2 T G 6: 122,049,730 (GRCm39) L921R probably damaging Het
Nacad T C 11: 6,548,580 (GRCm39) N1385D possibly damaging Het
Nin A G 12: 70,067,706 (GRCm39) F1983L probably benign Het
Nipal4 T C 11: 46,042,152 (GRCm39) I176M probably damaging Het
Ovch2 C T 7: 107,389,405 (GRCm39) C341Y probably damaging Het
Polq T A 16: 36,882,736 (GRCm39) H1633Q possibly damaging Het
Rab23 T C 1: 33,777,361 (GRCm39) probably benign Het
Rai14 A G 15: 10,574,868 (GRCm39) S697P probably damaging Het
Rnf213 T C 11: 119,327,628 (GRCm39) F1872L probably benign Het
Sdhc T C 1: 170,963,587 (GRCm39) H127R probably damaging Het
Snx9 T C 17: 5,942,095 (GRCm39) V74A probably benign Het
Spata31d1d A G 13: 59,875,748 (GRCm39) S596P possibly damaging Het
Syt14 T C 1: 192,584,242 (GRCm39) *78W probably null Het
Thoc1 A G 18: 9,970,258 (GRCm39) T203A probably benign Het
Trmt13 A G 3: 116,385,840 (GRCm39) probably null Het
Ttc28 A G 5: 111,373,716 (GRCm39) I1020V probably damaging Het
Vmn2r16 A G 5: 109,488,134 (GRCm39) T336A probably damaging Het
Other mutations in Orc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Orc6 APN 8 86,034,272 (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 2015-04-16