Incidental Mutation 'R7123:Orc1'
ID 552130
Institutional Source Beutler Lab
Gene Symbol Orc1
Ensembl Gene ENSMUSG00000028587
Gene Name origin recognition complex, subunit 1
Synonyms MmORC1, Orc1l
MMRRC Submission 045211-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7123 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108436651-108472030 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to C at 108445884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000099805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102744]
AlphaFold Q9Z1N2
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 damaging
Transcript: ENSMUST00000102744
AA Change: M1L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: M1L

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
Meta Mutation Damage Score 0.4255 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,949 (GRCm39) I1521T probably damaging Het
Adgrv1 A T 13: 81,740,693 (GRCm39) I145N probably damaging Het
Ago3 C A 4: 126,248,798 (GRCm39) probably null Het
Agrn A T 4: 156,257,297 (GRCm39) W1178R probably benign Het
Akap3 A T 6: 126,843,267 (GRCm39) I629L probably benign Het
Aknad1 T G 3: 108,682,560 (GRCm39) Y545* probably null Het
Anapc1 C A 2: 128,454,930 (GRCm39) V1925F probably damaging Het
Barhl1 C T 2: 28,799,943 (GRCm39) probably null Het
Cfap157 T C 2: 32,669,413 (GRCm39) E294G probably damaging Het
Cfd G A 10: 79,728,331 (GRCm39) G231S probably damaging Het
Csf2ra A G 19: 61,215,300 (GRCm39) V105A probably damaging Het
Dhtkd1 A T 2: 5,922,591 (GRCm39) W523R probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc22 A C 15: 98,999,085 (GRCm39) Y90S possibly damaging Het
Ebna1bp2 A G 4: 118,482,772 (GRCm39) K254E probably damaging Het
Gfpt1 A T 6: 87,033,168 (GRCm39) D131V probably damaging Het
Gm5460 A G 14: 33,763,982 (GRCm39) I21V unknown Het
H2-T9 A G 17: 36,438,686 (GRCm39) I235T possibly damaging Het
Htr1d C T 4: 136,169,664 (GRCm39) probably benign Het
Kndc1 G A 7: 139,516,749 (GRCm39) E1570K probably damaging Het
Kntc1 T C 5: 123,919,789 (GRCm39) Y887H probably damaging Het
Kti12 T C 4: 108,705,679 (GRCm39) S198P probably benign Het
Mcmdc2 A T 1: 10,010,643 (GRCm39) I604F unknown Het
Mmp8 A T 9: 7,563,196 (GRCm39) D253V probably damaging Het
Muc4 T C 16: 32,569,509 (GRCm39) S252P possibly damaging Het
Myo5c A G 9: 75,196,505 (GRCm39) K1317R probably benign Het
Ncoa7 T C 10: 30,530,435 (GRCm39) I749V probably benign Het
Nfrkb A G 9: 31,325,311 (GRCm39) probably null Het
Obscn T C 11: 58,904,477 (GRCm39) T7166A probably benign Het
Obsl1 A G 1: 75,466,313 (GRCm39) S1472P probably damaging Het
Or14j7 T A 17: 38,234,567 (GRCm39) L37M probably benign Het
Or1e20-ps1 T A 11: 73,324,536 (GRCm39) D172V unknown Het
Pkd1 T A 17: 24,813,742 (GRCm39) S4069T possibly damaging Het
Pus1 T C 5: 110,921,798 (GRCm39) *442W probably null Het
Rgma A C 7: 73,059,139 (GRCm39) D97A probably damaging Het
Ryr1 T C 7: 28,746,279 (GRCm39) K3834E probably benign Het
Sars2 T C 7: 28,452,866 (GRCm39) V475A probably benign Het
Scamp2 A T 9: 57,494,385 (GRCm39) T253S probably benign Het
Skint9 C T 4: 112,248,174 (GRCm39) W190* probably null Het
Spata31d1e G A 13: 59,891,254 (GRCm39) Q189* probably null Het
Sv2b C T 7: 74,767,450 (GRCm39) V649I possibly damaging Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tiparp A T 3: 65,460,948 (GRCm39) I646F probably damaging Het
Topaz1 G A 9: 122,577,480 (GRCm39) G130D probably damaging Het
Trio TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC 15: 27,742,399 (GRCm39) probably benign Het
Ttll7 C T 3: 146,619,051 (GRCm39) P319S possibly damaging Het
Umodl1 T A 17: 31,201,318 (GRCm39) F416I possibly damaging Het
Vmn2r104 T C 17: 20,261,088 (GRCm39) D445G probably benign Het
Wnk2 A G 13: 49,235,462 (GRCm39) V651A possibly damaging Het
Zbtb21 C T 16: 97,751,112 (GRCm39) S1057N probably damaging Het
Zfp451 A T 1: 33,815,950 (GRCm39) C667S probably damaging Het
Other mutations in Orc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Orc1 APN 4 108,452,522 (GRCm39) splice site probably benign
IGL00709:Orc1 APN 4 108,447,975 (GRCm39) critical splice donor site probably null
IGL01124:Orc1 APN 4 108,445,984 (GRCm39) splice site probably benign
IGL01514:Orc1 APN 4 108,459,249 (GRCm39) missense probably damaging 0.97
IGL01677:Orc1 APN 4 108,461,782 (GRCm39) missense probably damaging 1.00
IGL01782:Orc1 APN 4 108,463,465 (GRCm39) missense possibly damaging 0.78
IGL01886:Orc1 APN 4 108,461,154 (GRCm39) splice site probably null
IGL01912:Orc1 APN 4 108,447,941 (GRCm39) missense probably damaging 1.00
IGL02057:Orc1 APN 4 108,445,926 (GRCm39) missense possibly damaging 0.53
IGL02155:Orc1 APN 4 108,447,874 (GRCm39) missense probably benign 0.00
IGL02311:Orc1 APN 4 108,457,171 (GRCm39) missense probably benign
IGL02616:Orc1 APN 4 108,452,676 (GRCm39) missense probably benign 0.00
R0012:Orc1 UTSW 4 108,452,843 (GRCm39) critical splice donor site probably null
R0195:Orc1 UTSW 4 108,471,505 (GRCm39) nonsense probably null
R0239:Orc1 UTSW 4 108,452,843 (GRCm39) critical splice donor site probably null
R0239:Orc1 UTSW 4 108,452,843 (GRCm39) critical splice donor site probably null
R0611:Orc1 UTSW 4 108,459,229 (GRCm39) missense probably benign
R1351:Orc1 UTSW 4 108,452,564 (GRCm39) missense probably benign 0.01
R1966:Orc1 UTSW 4 108,469,414 (GRCm39) missense probably damaging 1.00
R2018:Orc1 UTSW 4 108,447,897 (GRCm39) missense possibly damaging 0.95
R2398:Orc1 UTSW 4 108,459,166 (GRCm39) missense possibly damaging 0.68
R3110:Orc1 UTSW 4 108,461,757 (GRCm39) missense probably benign 0.01
R3112:Orc1 UTSW 4 108,461,757 (GRCm39) missense probably benign 0.01
R3712:Orc1 UTSW 4 108,461,218 (GRCm39) missense probably damaging 1.00
R3716:Orc1 UTSW 4 108,471,656 (GRCm39) missense probably damaging 1.00
R3829:Orc1 UTSW 4 108,462,828 (GRCm39) missense probably damaging 1.00
R4282:Orc1 UTSW 4 108,463,471 (GRCm39) missense probably benign 0.18
R4320:Orc1 UTSW 4 108,445,973 (GRCm39) missense probably benign
R4321:Orc1 UTSW 4 108,445,973 (GRCm39) missense probably benign
R4322:Orc1 UTSW 4 108,445,973 (GRCm39) missense probably benign
R4348:Orc1 UTSW 4 108,450,649 (GRCm39) missense probably damaging 0.98
R4562:Orc1 UTSW 4 108,459,252 (GRCm39) critical splice donor site probably null
R4772:Orc1 UTSW 4 108,436,765 (GRCm39) utr 5 prime probably benign
R4914:Orc1 UTSW 4 108,461,755 (GRCm39) missense probably damaging 1.00
R4964:Orc1 UTSW 4 108,471,670 (GRCm39) makesense probably null
R5219:Orc1 UTSW 4 108,447,966 (GRCm39) missense probably damaging 1.00
R5428:Orc1 UTSW 4 108,457,137 (GRCm39) missense probably benign 0.00
R5655:Orc1 UTSW 4 108,450,636 (GRCm39) missense probably benign 0.09
R5693:Orc1 UTSW 4 108,470,276 (GRCm39) missense probably benign 0.01
R5936:Orc1 UTSW 4 108,459,180 (GRCm39) missense probably benign 0.10
R5960:Orc1 UTSW 4 108,463,495 (GRCm39) missense possibly damaging 0.67
R6294:Orc1 UTSW 4 108,447,867 (GRCm39) missense probably benign 0.01
R6504:Orc1 UTSW 4 108,447,914 (GRCm39) missense probably benign 0.15
R6533:Orc1 UTSW 4 108,454,644 (GRCm39) missense probably benign 0.05
R6775:Orc1 UTSW 4 108,460,652 (GRCm39) missense probably damaging 1.00
R7156:Orc1 UTSW 4 108,452,656 (GRCm39) missense probably benign 0.00
R7327:Orc1 UTSW 4 108,445,911 (GRCm39) missense probably benign 0.01
R7552:Orc1 UTSW 4 108,445,951 (GRCm39) missense probably benign 0.41
R7842:Orc1 UTSW 4 108,462,744 (GRCm39) missense probably benign 0.00
R7899:Orc1 UTSW 4 108,460,568 (GRCm39) splice site probably null
R8033:Orc1 UTSW 4 108,462,761 (GRCm39) missense probably damaging 1.00
R9442:Orc1 UTSW 4 108,469,357 (GRCm39) missense probably benign 0.06
R9762:Orc1 UTSW 4 108,447,874 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCTAGTAGTAAGACTTTGTAGG -3'
(R):5'- AGGCTACATTTTGCATTCCAACTTC -3'

Sequencing Primer
(F):5'- GTCTACATAGTGAGTTCCAGGAC -3'
(R):5'- GGTCCCGAGTTCAAATCTCAG -3'
Posted On 2019-05-15