Incidental Mutation 'R9521:Orc6'
ID 718888
Institutional Source Beutler Lab
Gene Symbol Orc6
Ensembl Gene ENSMUSG00000031697
Gene Name origin recognition complex, subunit 6
Synonyms 6720420I10Rik, Orc6l
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9521 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 86026261-86034907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86026615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000034132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034131] [ENSMUST00000034132] [ENSMUST00000170141] [ENSMUST00000210146] [ENSMUST00000211396] [ENSMUST00000211597]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034131
SMART Domains Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696

DomainStartEndE-ValueType
Pfam:Vps35 15 753 6.8e-303 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000034132
AA Change: V20A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: V20A

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170141
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000210146
AA Change: V20A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211396
AA Change: V20A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000211597
AA Change: V20A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 subunit 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 a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,608,778 (GRCm39) probably null Het
A030005K14Rik C A 1: 83,036,980 (GRCm39) G17V unknown Het
Afap1l1 C T 18: 61,879,863 (GRCm39) A336T probably benign Het
Akap8 C T 17: 32,530,036 (GRCm39) R395H possibly damaging Het
Ankrd26 G A 6: 118,517,420 (GRCm39) A467V possibly damaging Het
Ano9 A T 7: 140,682,227 (GRCm39) S683T probably benign Het
Aox3 C A 1: 58,164,222 (GRCm39) A164E probably benign Het
Apc T C 18: 34,445,738 (GRCm39) I878T probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atg9b T C 5: 24,593,107 (GRCm39) N432S probably benign Het
Atp1b3 A G 9: 96,227,911 (GRCm39) F49L probably damaging Het
Cacnb2 A T 2: 14,609,138 (GRCm39) probably benign Het
Ccdc180 T A 4: 45,916,283 (GRCm39) L828Q probably null Het
Chd3 C T 11: 69,249,133 (GRCm39) R748Q probably benign Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cldn18 T A 9: 99,581,028 (GRCm39) probably null Het
Cmklr1 C T 5: 113,752,480 (GRCm39) V174I probably benign Het
Cyp2d22 A T 15: 82,256,688 (GRCm39) V362D probably damaging Het
Dock10 T C 1: 80,501,763 (GRCm39) K1810R probably damaging Het
Duox1 T A 2: 122,159,216 (GRCm39) V661E possibly damaging Het
Ercc2 G A 7: 19,125,899 (GRCm39) R518Q probably damaging Het
Fam186a A G 15: 99,841,471 (GRCm39) L1591P probably damaging Het
Fam186b G T 15: 99,178,419 (GRCm39) D302E probably benign Het
Fap T C 2: 62,372,500 (GRCm39) D326G probably benign Het
Gm42669 T A 5: 107,655,892 (GRCm39) D135E Het
Keap1 A T 9: 21,143,136 (GRCm39) V463E probably damaging Het
Mga T C 2: 119,794,979 (GRCm39) S2888P probably damaging Het
Mgam A G 6: 40,722,118 (GRCm39) D403G probably damaging Het
Mios C T 6: 8,233,171 (GRCm39) T773I probably benign Het
Nav3 T C 10: 109,835,845 (GRCm39) D79G possibly damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or8k35 C A 2: 86,424,771 (GRCm39) V134F Het
Peli2 A G 14: 48,490,052 (GRCm39) K175E probably benign Het
Plec C G 15: 76,062,924 (GRCm39) R2382P possibly damaging Het
Ppp1r12b T A 1: 134,705,063 (GRCm39) D875V probably damaging Het
Pramel6 T A 2: 87,340,629 (GRCm39) C320* probably null Het
Qrich2 A T 11: 116,339,208 (GRCm39) M26K probably damaging Het
Rapgef1 A G 2: 29,624,291 (GRCm39) I1006V probably benign Het
Rasgrp3 T A 17: 75,821,158 (GRCm39) L455Q probably null Het
Scaf8 C T 17: 3,248,285 (GRCm39) R1203W probably damaging Het
Senp6 C T 9: 79,974,687 (GRCm39) probably benign Het
Senp7 A G 16: 55,992,144 (GRCm39) Y700C probably damaging Het
Siglec1 A G 2: 130,915,246 (GRCm39) probably null Het
Slc12a7 G A 13: 73,947,087 (GRCm39) V592I probably benign Het
Slfn3 T C 11: 83,103,825 (GRCm39) V232A probably benign Het
Tdp1 T C 12: 99,877,906 (GRCm39) V396A probably damaging Het
Ticam1 T C 17: 56,578,388 (GRCm39) T236A probably benign Het
Tob1 AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC AGCAGCAGCAGCAGCAGCAGCC 11: 94,105,205 (GRCm39) probably benign Het
Ttc21a C A 9: 119,787,181 (GRCm39) D729E probably damaging Het
Ubtd2 T C 11: 32,449,432 (GRCm39) I93T possibly damaging Het
Unc45b A G 11: 82,808,586 (GRCm39) D224G probably benign Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r61 A G 7: 41,916,626 (GRCm39) E413G probably damaging Het
Zfp423 A T 8: 88,509,033 (GRCm39) L437Q probably damaging Het
Zfp810 A G 9: 22,190,227 (GRCm39) V227A possibly damaging Het
Other mutations in Orc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Orc6 APN 8 86,034,272 (GRCm39) missense probably damaging 1.00
IGL02531:Orc6 APN 8 86,029,998 (GRCm39) missense probably damaging 1.00
IGL02713:Orc6 APN 8 86,034,215 (GRCm39) missense probably benign 0.00
IGL02997:Orc6 APN 8 86,032,837 (GRCm39) unclassified probably benign
R0685:Orc6 UTSW 8 86,027,783 (GRCm39) missense possibly damaging 0.93
R1667:Orc6 UTSW 8 86,031,914 (GRCm39) missense possibly damaging 0.94
R3619:Orc6 UTSW 8 86,026,623 (GRCm39) critical splice donor site probably null
R3810:Orc6 UTSW 8 86,026,613 (GRCm39) missense probably benign 0.05
R4707:Orc6 UTSW 8 86,029,579 (GRCm39) missense probably damaging 1.00
R4784:Orc6 UTSW 8 86,029,579 (GRCm39) missense probably damaging 1.00
R5743:Orc6 UTSW 8 86,029,585 (GRCm39) missense probably benign 0.02
R7062:Orc6 UTSW 8 86,029,537 (GRCm39) missense probably damaging 1.00
R7199:Orc6 UTSW 8 86,029,590 (GRCm39) critical splice donor site probably null
R7803:Orc6 UTSW 8 86,030,037 (GRCm39) missense possibly damaging 0.77
R7880:Orc6 UTSW 8 86,031,873 (GRCm39) missense probably benign 0.01
R9512:Orc6 UTSW 8 86,029,522 (GRCm39) missense
R9620:Orc6 UTSW 8 86,026,430 (GRCm39) start gained probably benign
Y5406:Orc6 UTSW 8 86,034,302 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGATTGGTGTGTGGAAC -3'
(R):5'- TATCCAACAGAGCTAGAGTGCTTC -3'

Sequencing Primer
(F):5'- TGTGGAACGGTCTCAACCTCTG -3'
(R):5'- GTGCTTCAAGGACGACTATATACG -3'
Posted On 2022-07-18