Incidental Mutation 'IGL00333:Orc1'
ID12870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orc1
Ensembl Gene ENSMUSG00000028587
Gene Nameorigin recognition complex, subunit 1
SynonymsMmORC1, Orc1l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00333
Quality Score
Status
Chromosome4
Chromosomal Location108579423-108614833 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 108595325 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102744]
PDB Structure
Structure of free mouse ORC1 BAH domain [X-RAY DIFFRACTION]
Structure of mouse ORC1 BAH domain bound to H4K20me2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102744
SMART Domains Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587

DomainStartEndE-ValueType
BAH 44 170 1.88e-31 SMART
low complexity region 394 417 N/A INTRINSIC
AAA 505 656 1e-7 SMART
Cdc6_C 757 837 5.45e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139772
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 subunits 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 the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b3 C T 10: 80,530,987 C259Y probably damaging Het
Bag6 T G 17: 35,144,651 D770E probably damaging Het
Ccdc8 T A 7: 16,996,042 D485E unknown Het
Cyp2c54 A C 19: 40,072,078 V153G probably damaging Het
Fam214a T C 9: 75,025,790 I1006T probably benign Het
Gm10471 A G 5: 26,086,493 M105T possibly damaging Het
Haus8 A G 8: 71,255,645 probably null Het
Hgf A T 5: 16,611,882 T499S possibly damaging Het
Ifitm1 T A 7: 140,969,624 *107R probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Klk1b27 T A 7: 44,056,143 probably null Het
Lpin2 C A 17: 71,243,972 T709K probably damaging Het
Lrig3 T C 10: 126,013,148 L945P probably benign Het
Lrrn4 C T 2: 132,870,817 C362Y probably damaging Het
Map3k20 T C 2: 72,371,976 S184P probably damaging Het
Nr2f1 A T 13: 78,189,833 V231E probably damaging Het
Olfr103 A T 17: 37,336,583 Y216* probably null Het
Osr1 A C 12: 9,579,432 I102L probably benign Het
Pcbd1 A T 10: 61,092,170 Q37L probably benign Het
Pclo C T 5: 14,521,677 Q359* probably null Het
Rpgrip1 A T 14: 52,150,438 probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sspo A G 6: 48,470,453 T2184A probably benign Het
Synpo2 C T 3: 123,113,210 G819D probably damaging Het
Taar8b A G 10: 24,091,756 V180A possibly damaging Het
Tbc1d8 T C 1: 39,394,129 D324G probably damaging Het
Tcaf2 A T 6: 42,630,036 L328* probably null Het
Tmem253 T C 14: 52,017,961 L76P probably damaging Het
Tsc1 G A 2: 28,661,611 V46I probably damaging Het
Ttn A T 2: 76,949,081 F1152I probably benign Het
Txnrd2 T C 16: 18,438,351 V139A probably damaging Het
Ublcp1 T C 11: 44,460,770 D212G probably damaging Het
Utrn A T 10: 12,671,830 L1622Q probably damaging Het
Vmn2r103 A G 17: 19,793,102 T162A probably damaging Het
Other mutations in Orc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Orc1 APN 4 108590778 critical splice donor site probably null
IGL01124:Orc1 APN 4 108588787 splice site probably benign
IGL01514:Orc1 APN 4 108602052 missense probably damaging 0.97
IGL01677:Orc1 APN 4 108604585 missense probably damaging 1.00
IGL01782:Orc1 APN 4 108606268 missense possibly damaging 0.78
IGL01886:Orc1 APN 4 108603957 splice site probably null
IGL01912:Orc1 APN 4 108590744 missense probably damaging 1.00
IGL02057:Orc1 APN 4 108588729 missense possibly damaging 0.53
IGL02155:Orc1 APN 4 108590677 missense probably benign 0.00
IGL02311:Orc1 APN 4 108599974 missense probably benign
IGL02616:Orc1 APN 4 108595479 missense probably benign 0.00
land_lubber UTSW 4 108588687 start codon destroyed probably damaging 0.99
R0012:Orc1 UTSW 4 108595646 critical splice donor site probably null
R0195:Orc1 UTSW 4 108614308 nonsense probably null
R0239:Orc1 UTSW 4 108595646 critical splice donor site probably null
R0239:Orc1 UTSW 4 108595646 critical splice donor site probably null
R0611:Orc1 UTSW 4 108602032 missense probably benign
R1351:Orc1 UTSW 4 108595367 missense probably benign 0.01
R1966:Orc1 UTSW 4 108612217 missense probably damaging 1.00
R2018:Orc1 UTSW 4 108590700 missense possibly damaging 0.95
R2398:Orc1 UTSW 4 108601969 missense possibly damaging 0.68
R3110:Orc1 UTSW 4 108604560 missense probably benign 0.01
R3112:Orc1 UTSW 4 108604560 missense probably benign 0.01
R3712:Orc1 UTSW 4 108604021 missense probably damaging 1.00
R3716:Orc1 UTSW 4 108614459 missense probably damaging 1.00
R3829:Orc1 UTSW 4 108605631 missense probably damaging 1.00
R4282:Orc1 UTSW 4 108606274 missense probably benign 0.18
R4320:Orc1 UTSW 4 108588776 missense probably benign
R4321:Orc1 UTSW 4 108588776 missense probably benign
R4322:Orc1 UTSW 4 108588776 missense probably benign
R4348:Orc1 UTSW 4 108593452 missense probably damaging 0.98
R4562:Orc1 UTSW 4 108602055 critical splice donor site probably null
R4772:Orc1 UTSW 4 108579568 utr 5 prime probably benign
R4914:Orc1 UTSW 4 108604558 missense probably damaging 1.00
R4964:Orc1 UTSW 4 108614473 makesense probably null
R5219:Orc1 UTSW 4 108590769 missense probably damaging 1.00
R5428:Orc1 UTSW 4 108599940 missense probably benign 0.00
R5655:Orc1 UTSW 4 108593439 missense probably benign 0.09
R5693:Orc1 UTSW 4 108613079 missense probably benign 0.01
R5936:Orc1 UTSW 4 108601983 missense probably benign 0.10
R5960:Orc1 UTSW 4 108606298 missense possibly damaging 0.67
R6294:Orc1 UTSW 4 108590670 missense probably benign 0.01
R6504:Orc1 UTSW 4 108590717 missense probably benign 0.15
R6533:Orc1 UTSW 4 108597447 missense probably benign 0.05
R6775:Orc1 UTSW 4 108603455 missense probably damaging 1.00
R7123:Orc1 UTSW 4 108588687 start codon destroyed probably damaging 0.99
R7156:Orc1 UTSW 4 108595459 missense probably benign 0.00
R7327:Orc1 UTSW 4 108588714 missense probably benign 0.01
R7552:Orc1 UTSW 4 108588754 missense probably benign 0.41
R7842:Orc1 UTSW 4 108605547 missense probably benign 0.00
R7925:Orc1 UTSW 4 108605547 missense probably benign 0.00
R7982:Orc1 UTSW 4 108603371 intron probably null
R8033:Orc1 UTSW 4 108605564 missense probably damaging 1.00
Posted On2012-12-06