Incidental Mutation 'R7842:Orc1'
ID 606364
Institutional Source Beutler Lab
Gene Symbol Orc1
Ensembl Gene ENSMUSG00000028587
Gene Name origin recognition complex, subunit 1
Synonyms MmORC1, Orc1l
MMRRC Submission 045896-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7842 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108436651-108472030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108462744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 607 (H607R)
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: H607R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: H607R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,855,034 (GRCm39) T3A unknown Het
4933412E24Rik T C 15: 59,888,422 (GRCm39) E6G probably damaging Het
Abca6 A G 11: 110,087,523 (GRCm39) L1135P possibly damaging Het
Agps A G 2: 75,681,876 (GRCm39) D113G probably damaging Het
Ankhd1 G T 18: 36,780,881 (GRCm39) V1978L probably benign Het
Ankrd31 T A 13: 96,957,966 (GRCm39) probably null Het
Arhgap5 T A 12: 52,565,480 (GRCm39) M817K possibly damaging Het
Bdp1 C A 13: 100,235,637 (GRCm39) V105F probably damaging Het
Brdt A G 5: 107,496,454 (GRCm39) N189D possibly damaging Het
Ccdc180 A T 4: 45,909,428 (GRCm39) N532I probably benign Het
Ccnc A C 4: 21,730,480 (GRCm39) K39T probably damaging Het
Cfap251 T C 5: 123,392,487 (GRCm39) V207A unknown Het
Cfap57 C A 4: 118,411,952 (GRCm39) G1231* probably null Het
Chd7 A T 4: 8,854,115 (GRCm39) T1896S probably benign Het
Clk4 A T 11: 51,171,956 (GRCm39) H412L probably benign Het
Creld1 T C 6: 113,465,100 (GRCm39) L109P probably damaging Het
Cxxc4 A T 3: 133,946,093 (GRCm39) I225L possibly damaging Het
Cyp4f39 A T 17: 32,702,291 (GRCm39) R263W probably benign Het
Dennd10 G A 19: 60,819,317 (GRCm39) A263T not run Het
Dip2c T C 13: 9,656,569 (GRCm39) probably null Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnah17 C A 11: 117,970,508 (GRCm39) probably null Het
Dnajc10 A G 2: 80,175,409 (GRCm39) K599E probably benign Het
Dnajc7 C A 11: 100,489,544 (GRCm39) R101L probably benign Het
Dnttip2 G A 3: 122,069,990 (GRCm39) E402K probably benign Het
Dusp22 T A 13: 30,852,774 (GRCm39) probably null Het
Egflam C A 15: 7,280,675 (GRCm39) R450M probably null Het
Eml5 C T 12: 98,760,394 (GRCm39) R1785Q probably damaging Het
Fam78b G T 1: 166,829,178 (GRCm39) R15L probably damaging Het
Fbxl5 A T 5: 43,915,945 (GRCm39) I489N probably damaging Het
Flt3 G A 5: 147,271,263 (GRCm39) P893S probably damaging Het
Gm17019 T C 5: 15,081,049 (GRCm39) M131V possibly damaging Het
Gm21560 T A 14: 6,216,262 (GRCm38) I194F probably benign Het
Gm28729 T C 9: 96,399,705 (GRCm39) D158G probably damaging Het
Gucy2c C T 6: 136,746,814 (GRCm39) probably null Het
Hectd1 C T 12: 51,819,343 (GRCm39) G1247S probably damaging Het
Ireb2 T A 9: 54,816,970 (GRCm39) I946K probably benign Het
Itgb4 A T 11: 115,873,531 (GRCm39) D249V probably benign Het
Klhdc7a A G 4: 139,694,549 (GRCm39) S133P probably damaging Het
Lsr A T 7: 30,665,437 (GRCm39) D172E possibly damaging Het
Macf1 T C 4: 123,420,702 (GRCm39) E184G probably benign Het
Map2 T A 1: 66,455,570 (GRCm39) D1421E probably benign Het
Map3k4 A T 17: 12,490,030 (GRCm39) L467H possibly damaging Het
Mogat1 T C 1: 78,499,502 (GRCm39) probably null Het
Mxra8 A G 4: 155,927,367 (GRCm39) D384G probably damaging Het
Myo15b A G 11: 115,762,321 (GRCm39) T1214A Het
Naip1 T C 13: 100,563,506 (GRCm39) Y553C probably damaging Het
Nln A T 13: 104,189,137 (GRCm39) I278K probably benign Het
Nsmaf T A 4: 6,435,109 (GRCm39) probably null Het
Nynrin A G 14: 56,102,553 (GRCm39) R741G probably damaging Het
Or4p8 A G 2: 88,727,305 (GRCm39) V212A possibly damaging Het
Or52e19b A G 7: 103,032,783 (GRCm39) V142A probably benign Het
Or5d38 C T 2: 87,955,330 (GRCm39) probably benign Het
Or8j3 G T 2: 86,028,516 (GRCm39) Y193* probably null Het
Pate2 A T 9: 35,581,829 (GRCm39) Y41F probably damaging Het
Pcdhb20 A T 18: 37,638,112 (GRCm39) T213S possibly damaging Het
Pcm1 G A 8: 41,780,621 (GRCm39) E1858K possibly damaging Het
Pla2g2d A G 4: 138,506,089 (GRCm39) T59A probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prl2c2 A G 13: 13,179,907 (GRCm39) L2P probably benign Het
Proz G A 8: 13,113,406 (GRCm39) V76I probably benign Het
Prr36 A G 8: 4,260,953 (GRCm39) S955P probably benign Het
Pter T C 2: 12,983,352 (GRCm39) V119A probably damaging Het
Qrich1 T A 9: 108,433,567 (GRCm39) probably null Het
Rbm15b T C 9: 106,763,088 (GRCm39) E360G probably damaging Het
Skint11 G A 4: 114,101,968 (GRCm39) C327Y possibly damaging Het
Spag17 T A 3: 99,961,174 (GRCm39) S987T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Tbx1 T C 16: 18,405,365 (GRCm39) S100G unknown Het
Tiam2 C T 17: 3,568,399 (GRCm39) S1515L possibly damaging Het
Togaram1 C A 12: 65,013,233 (GRCm39) D161E probably damaging Het
Trhde A T 10: 114,532,003 (GRCm39) S366T possibly damaging Het
Ttc12 A G 9: 49,349,724 (GRCm39) I691T possibly damaging Het
Ube4a A G 9: 44,861,025 (GRCm39) probably null Het
Uggt2 A T 14: 119,235,516 (GRCm39) I1453N probably damaging Het
Unc79 T C 12: 103,058,313 (GRCm39) S972P probably damaging Het
Wdr20 G A 12: 110,704,649 (GRCm39) D63N probably benign Het
Wls T A 3: 159,578,816 (GRCm39) I126N probably benign Het
Xirp2 A G 2: 67,355,289 (GRCm39) D3350G probably benign 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
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
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'- TTCTGTATCAACTGAAGCCTGTCC -3'
(R):5'- GCAACATTTCTCATTCCAGCAC -3'

Sequencing Primer
(F):5'- AACTGAAGCCTGTCCATTGATTC -3'
(R):5'- CATTTCTCATTCCAGCACAAAAATG -3'
Posted On 2019-12-20