Incidental Mutation 'R4282:Orc1'
ID 322935
Institutional Source Beutler Lab
Gene Symbol Orc1
Ensembl Gene ENSMUSG00000028587
Gene Name origin recognition complex, subunit 1
Synonyms MmORC1, Orc1l
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 108436651-108472030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108463471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 663 (S663G)
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 benign
Transcript: ENSMUST00000102744
AA Change: S663G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: S663G

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: ENSMUST00000129931
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G 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
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
R7123:Orc1 UTSW 4 108,445,884 (GRCm39) start codon destroyed probably damaging 0.99
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'- AGGTACCCAGGTCAACTAGG -3'
(R):5'- ATCCTCGTGGCCTTCTAAAG -3'

Sequencing Primer
(F):5'- GTCAACTAGGCAGCAGCTG -3'
(R):5'- CAGTAGTTCACAAATTTAGCCCTGGC -3'
Posted On 2015-06-20