Incidental Mutation 'R3810:Orc6'
ID 275163
Institutional Source Beutler Lab
Gene Symbol Orc6
Ensembl Gene ENSMUSG00000031697
Gene Name origin recognition complex, subunit 6
Synonyms 6720420I10Rik, Orc6l
MMRRC Submission 040880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3810 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 86026261-86034907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86026613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 19 (S19R)
Ref Sequence ENSEMBL: ENSMUSP00000147488 (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 probably benign
Transcript: ENSMUST00000034132
AA Change: S19R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: S19R

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 noncoding transcript
Transcript: ENSMUST00000209228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209733
Predicted Effect probably benign
Transcript: ENSMUST00000210146
AA Change: S19R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211396
AA Change: S19R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000211597
AA Change: S19R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211154
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 T A 14: 8,045,603 (GRCm38) V173D probably benign Het
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Ahcyl2 A G 6: 29,891,260 (GRCm39) I455V probably benign Het
Bpifb2 T A 2: 153,733,871 (GRCm39) D404E probably benign Het
Ctbp1 A G 5: 33,424,389 (GRCm39) probably benign Het
D130040H23Rik T A 8: 69,755,022 (GRCm39) C160S probably damaging Het
Dapk1 T C 13: 60,908,503 (GRCm39) W1039R probably damaging Het
Dock6 T C 9: 21,712,873 (GRCm39) K1995E probably damaging Het
Entpd3 A G 9: 120,391,068 (GRCm39) E440G probably benign Het
Gm20939 G A 17: 95,184,138 (GRCm39) R262K possibly damaging Het
Gm9637 A T 14: 19,402,398 (GRCm38) noncoding transcript Het
Gm9847 T C 12: 14,545,148 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,757 (GRCm39) E182G probably damaging Het
Has1 T C 17: 18,067,822 (GRCm39) Y356C probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl35 A G 7: 99,119,448 (GRCm39) D311G probably benign Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Mrgpra9 T A 7: 46,885,527 (GRCm39) I47F probably damaging Het
Muc5b T C 7: 141,417,863 (GRCm39) L3603P possibly damaging Het
Neurl4 A G 11: 69,794,859 (GRCm39) H323R probably damaging Het
Oas1d A T 5: 121,053,049 (GRCm39) I35F probably damaging Het
Or4c124 G A 2: 89,156,098 (GRCm39) T142M probably benign Het
Or4c12b T A 2: 89,647,395 (GRCm39) S242T probably damaging Het
Or5w18 C T 2: 87,633,396 (GRCm39) S221F possibly damaging Het
Or5w19 T A 2: 87,698,745 (GRCm39) S137T probably damaging Het
Pcdh12 T C 18: 38,414,290 (GRCm39) E945G probably damaging Het
Plekha6 A G 1: 133,201,717 (GRCm39) M377V probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Tas2r130 A G 6: 131,607,792 (GRCm39) M1T probably null Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trgv2 T C 13: 19,521,011 (GRCm39) T28A possibly damaging Het
Trpc4ap T A 2: 155,485,355 (GRCm39) I448F probably damaging Het
Ttc21b C T 2: 66,082,577 (GRCm39) probably null Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E probably benign Het
Uvrag A G 7: 98,628,919 (GRCm39) Y383H probably damaging Het
Vim T C 2: 13,583,563 (GRCm39) probably null 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
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
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'- TGTGTGGAACGGTCTCAACC -3'
(R):5'- TTTCCGACCACAGTGTATCCAAC -3'

Sequencing Primer
(F):5'- GAACGGTCTCAACCTCTGGTC -3'
(R):5'- GTATCCAACAGAGCTAGAGTGCTTC -3'
Posted On 2015-04-02