Incidental Mutation 'R9512:Orc6'
ID 718236
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 # R9512 (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 A at 86029522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 98 (I98N)
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
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: I98N

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170141
AA Change: I22N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: I22N

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000210146
AA Change: I98N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000211396
AA Change: I132N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211597
AA Change: I98N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,022,963 (GRCm39) A33V probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Alkbh8 G T 9: 3,367,959 (GRCm39) R325M probably damaging Het
Ap1g1 T C 8: 110,529,687 (GRCm39) S36P probably damaging Het
Arid1b A G 17: 5,391,864 (GRCm39) D1745G probably benign Het
Bnipl A G 3: 95,150,369 (GRCm39) V292A probably benign Het
Brca2 C T 5: 150,454,546 (GRCm39) A103V probably benign Het
Capn3 G A 2: 120,326,535 (GRCm39) E576K probably damaging Het
Eif2ak4 G A 2: 118,293,196 (GRCm39) G1372S probably damaging Het
Ephb6 G A 6: 41,593,030 (GRCm39) E423K possibly damaging Het
Esrp1 A G 4: 11,365,449 (GRCm39) V213A probably benign Het
Fndc3a T C 14: 72,827,424 (GRCm39) E87G probably damaging Het
Foxn1 G T 11: 78,262,035 (GRCm39) S111R Het
Fyb2 G A 4: 104,853,100 (GRCm39) R564Q probably benign Het
Henmt1 A G 3: 108,867,445 (GRCm39) I327V probably benign Het
Hsdl2 A T 4: 59,594,464 (GRCm39) R117* probably null Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Lrrcc1 T C 3: 14,613,301 (GRCm39) L463P possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Meiosin T A 7: 18,838,860 (GRCm39) T156S unknown Het
Mroh4 C A 15: 74,485,095 (GRCm39) R539L probably benign Het
Nln A T 13: 104,198,274 (GRCm39) H179Q possibly damaging Het
Nrg2 A G 18: 36,179,010 (GRCm39) F309L probably benign Het
Ntng2 T C 2: 29,117,969 (GRCm39) T160A possibly damaging Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4x12-ps1 A G 2: 89,916,721 (GRCm39) L28P possibly damaging Het
Or9s14 T C 1: 92,535,990 (GRCm39) C144R probably benign Het
Pcdha8 A C 18: 37,126,624 (GRCm39) I369L possibly damaging Het
Plk2 C T 13: 110,536,673 (GRCm39) T655M probably damaging Het
Pou1f1 A G 16: 65,320,502 (GRCm39) T66A probably benign Het
Ppp1r9a A T 6: 5,113,681 (GRCm39) E728D probably benign Het
Ppp1r9a T C 6: 5,115,364 (GRCm39) V829A probably damaging Het
Psd T C 19: 46,306,154 (GRCm39) K46R possibly damaging Het
Slc25a51 T C 4: 45,399,360 (GRCm39) I277V probably benign Het
Slc9a2 T G 1: 40,721,258 (GRCm39) D75E probably damaging Het
Slitrk5 A G 14: 111,917,252 (GRCm39) Y292C probably damaging Het
Snap91 T G 9: 86,665,392 (GRCm39) T667P unknown Het
Spata16 G C 3: 26,722,093 (GRCm39) E205Q possibly damaging Het
Stard6 G A 18: 70,633,601 (GRCm39) V203I probably benign Het
Stra8 G A 6: 34,909,988 (GRCm39) A137T probably benign Het
Toporsl A G 4: 52,610,382 (GRCm39) T92A probably benign Het
Ush2a A G 1: 188,643,160 (GRCm39) N4174S probably damaging Het
Vmn1r232 A C 17: 21,134,416 (GRCm39) S61R probably damaging Het
Zfp263 T C 16: 3,564,306 (GRCm39) S199P probably damaging Het
Zfp616 G A 11: 73,975,936 (GRCm39) C735Y probably 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
R9521:Orc6 UTSW 8 86,026,615 (GRCm39) missense possibly damaging 0.95
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'- TATCACAGACTGGAGAGGTGGC -3'
(R):5'- CTGACTGTGCTTCTAACAACG -3'

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