Incidental Mutation 'R5960:Orc1'
ID 471395
Institutional Source Beutler Lab
Gene Symbol Orc1
Ensembl Gene ENSMUSG00000028587
Gene Name origin recognition complex, subunit 1
Synonyms MmORC1, Orc1l
MMRRC Submission 044147-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5960 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 108436651-108472030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108463495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 671 (S671P)
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 possibly damaging
Transcript: ENSMUST00000102744
AA Change: S671P

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: S671P

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 0.6269 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 99% (71/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,528 (GRCm39) T30A possibly damaging Het
Adat1 T C 8: 112,709,233 (GRCm39) M197V probably benign Het
Alcam T C 16: 52,115,489 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,648,178 (GRCm39) S886R possibly damaging Het
Aopep G A 13: 63,388,087 (GRCm39) R22Q probably damaging Het
Atg2a T G 19: 6,304,390 (GRCm39) F1136V probably damaging Het
Birc6 A T 17: 74,835,760 (GRCm39) T72S probably damaging Het
Caskin1 A G 17: 24,717,869 (GRCm39) T219A probably benign Het
Catsperg1 A G 7: 28,884,208 (GRCm39) probably benign Het
Cdh12 A G 15: 21,492,562 (GRCm39) probably null Het
Cfap126 A G 1: 170,952,882 (GRCm39) D45G probably damaging Het
Ciz1 C A 2: 32,261,228 (GRCm39) Q356K possibly damaging Het
Ckmt1 T A 2: 121,194,058 (GRCm39) I407N probably damaging Het
Csmd1 C T 8: 16,121,430 (GRCm39) E1756K possibly damaging Het
Cwf19l2 A G 9: 3,411,404 (GRCm39) K94E probably benign Het
Cyth1 A G 11: 118,023,193 (GRCm39) probably benign Het
Ddx25 A G 9: 35,465,807 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock3 C A 9: 106,788,554 (GRCm39) G138* probably null Het
Fam20a G A 11: 109,566,795 (GRCm39) probably benign Het
Fanci A G 7: 79,093,510 (GRCm39) T1006A probably damaging Het
Fat1 T C 8: 45,486,405 (GRCm39) Y3320H probably damaging Het
Fndc8 A G 11: 82,788,398 (GRCm39) D76G probably benign Het
Gm19965 T C 1: 116,749,201 (GRCm39) I294T possibly damaging Het
Gm9755 T G 8: 67,967,840 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,878,113 (GRCm39) V879A possibly damaging Het
Ifi209 A T 1: 173,466,382 (GRCm39) probably null Het
Itgb2l T C 16: 96,227,459 (GRCm39) H528R probably benign Het
Marf1 T C 16: 13,970,281 (GRCm39) Q146R probably damaging Het
Megf11 A G 9: 64,567,731 (GRCm39) T407A probably benign Het
Mtg1 T C 7: 139,726,906 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,402,724 (GRCm39) S1317A probably benign Het
Nhsl3 A G 4: 129,115,865 (GRCm39) V933A probably damaging Het
Nudt16 A T 9: 105,008,698 (GRCm39) C63S possibly damaging Het
Nup107 T C 10: 117,625,915 (GRCm39) I49V probably null Het
Or51a24 G T 7: 103,733,560 (GRCm39) N242K probably damaging Het
Or5m13 T A 2: 85,749,069 (GRCm39) S267T probably benign Het
Paox A G 7: 139,712,402 (GRCm39) D211G probably benign Het
Pck2 A G 14: 55,786,004 (GRCm39) T571A possibly damaging Het
Pigg A G 5: 108,484,160 (GRCm39) E469G probably benign Het
Pikfyve C A 1: 65,292,597 (GRCm39) Y1349* probably null Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Prpf40b G T 15: 99,212,785 (GRCm39) R627L probably damaging Het
Rasgrf1 A G 9: 89,903,437 (GRCm39) I1217V possibly damaging Het
Rbm26 A T 14: 105,387,751 (GRCm39) V457D probably damaging Het
Rex1bd C A 8: 70,959,156 (GRCm39) R49L probably null Het
Robo2 A T 16: 73,730,603 (GRCm39) L1003Q probably damaging Het
Sacs A G 14: 61,446,144 (GRCm39) D2730G probably benign Het
Setd6 T A 8: 96,442,827 (GRCm39) L88H probably damaging Het
Smim35 T C 9: 45,154,288 (GRCm39) Y50H probably damaging Het
Sncb A G 13: 54,910,795 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,225 (GRCm39) H985L probably benign Het
Spmap2 T G 10: 79,421,765 (GRCm39) K151T possibly damaging Het
Stard9 A G 2: 120,530,442 (GRCm39) E2233G probably benign Het
Susd2 C T 10: 75,475,770 (GRCm39) V410I probably damaging Het
Synm A G 7: 67,385,494 (GRCm39) S281P probably damaging Het
Syvn1 C T 19: 6,100,598 (GRCm39) R330C probably damaging Het
Tiam2 A T 17: 3,488,915 (GRCm39) D741V probably benign Het
Tph1 A G 7: 46,311,429 (GRCm39) probably null Het
Trav7-5 T A 14: 53,768,706 (GRCm39) H91Q probably benign Het
Tymp A T 15: 89,260,778 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A 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
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'- TGCAAGGTACCCAGGTCAAC -3'
(R):5'- TCCTCGTGGCCTTCTAAAGAATC -3'

Sequencing Primer
(F):5'- GTACCCAGGTCAACTAGGCAG -3'
(R):5'- CAGTAGTTCACAAATTTAGCCCTGGC -3'
Posted On 2017-03-31