Incidental Mutation 'R7803:Orc6'
ID 600614
Institutional Source Beutler Lab
Gene Symbol Orc6
Ensembl Gene ENSMUSG00000031697
Gene Name origin recognition complex, subunit 6
Synonyms 6720420I10Rik, Orc6l
MMRRC Submission 045858-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7803 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 86026261-86034907 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86030037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 136 (S136T)
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: S136T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: S136T

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170141
AA Change: S60T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: S60T

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000210146
AA Change: S136T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211396
AA Change: S170T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211597
AA Change: S136T

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (49/50)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C A 19: 34,220,818 (GRCm39) A297S probably benign Het
Ada A G 2: 163,577,288 (GRCm39) Y67H probably benign Het
Adcy9 A G 16: 4,122,244 (GRCm39) I839T probably benign Het
Arg1 C T 10: 24,792,689 (GRCm39) V182I possibly damaging Het
Cbx7 G A 15: 79,818,024 (GRCm39) T26M unknown Het
Ceacam5 A G 7: 17,493,317 (GRCm39) Y780C probably damaging Het
Ces2h A G 8: 105,745,032 (GRCm39) M389V probably benign Het
Chst11 A T 10: 83,027,020 (GRCm39) E149V possibly damaging Het
Clstn1 T C 4: 149,716,328 (GRCm39) W265R probably damaging Het
Col4a4 A G 1: 82,467,419 (GRCm39) probably null Het
Csrp3 T G 7: 48,483,545 (GRCm39) K119T probably benign Het
Ddx39a T C 8: 84,446,229 (GRCm39) probably null Het
Ddx41 A G 13: 55,679,734 (GRCm39) I437T probably damaging Het
Eif1ad4 T A 12: 87,862,269 (GRCm39) C44S probably benign Het
Fbln5 A T 12: 101,728,077 (GRCm39) D282E probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gch1 T A 14: 47,426,418 (GRCm39) T103S probably benign Het
Gpr149 A G 3: 62,438,136 (GRCm39) S674P probably damaging Het
Hecw1 G T 13: 14,408,927 (GRCm39) R1127S probably benign Het
Hmcn1 A T 1: 150,646,030 (GRCm39) C723S probably benign Het
Impg2 T C 16: 56,087,513 (GRCm39) S1111P probably damaging Het
Insl3 T C 8: 72,141,984 (GRCm39) L28P probably damaging Het
Kifc1 T C 17: 34,103,714 (GRCm39) D203G probably benign Het
Kmt2d A T 15: 98,760,804 (GRCm39) S849T unknown Het
Krt33b A G 11: 99,916,084 (GRCm39) probably null Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Maml2 AGC AGCCGC 9: 13,532,550 (GRCm39) probably benign Het
Maml2 AGC AGCCGC 9: 13,532,571 (GRCm39) probably benign Het
Maml2 GCA GCACCA 9: 13,532,572 (GRCm39) probably benign Het
Nsun7 T A 5: 66,433,884 (GRCm39) L178* probably null Het
Or6c1b A G 10: 129,272,800 (GRCm39) N40D probably damaging Het
Or6c205 A T 10: 129,086,864 (GRCm39) I154F probably benign Het
Or8g55 A T 9: 39,785,378 (GRCm39) D269V probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,779,377 (GRCm39) probably null Het
Prkdc G A 16: 15,623,960 (GRCm39) D3308N probably null Het
Rtkn2 G A 10: 67,815,643 (GRCm39) probably null Het
Sele T C 1: 163,878,263 (GRCm39) S201P possibly damaging Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Sparc A T 11: 55,300,797 (GRCm39) I5N probably damaging Het
Spata31e3 A G 13: 50,400,226 (GRCm39) V700A probably benign Het
Srm T C 4: 148,678,402 (GRCm39) I238T probably damaging Het
Stx2 C A 5: 129,070,627 (GRCm39) E97* probably null Het
Sugp2 C T 8: 70,704,722 (GRCm39) P753L probably benign Het
Tenm2 A T 11: 35,937,943 (GRCm39) S1578T probably damaging Het
Tff3 T C 17: 31,348,544 (GRCm39) T3A probably benign Het
Tmem38a C T 8: 73,325,964 (GRCm39) A6V probably benign Het
Trbv16 G A 6: 41,128,929 (GRCm39) A38T not run Het
Trim30a G A 7: 104,060,604 (GRCm39) Q391* probably null Het
Ttn T G 2: 76,606,715 (GRCm39) Y18065S probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Vmn2r24 T A 6: 123,757,438 (GRCm39) M102K probably benign Het
Vmn2r69 G T 7: 85,056,324 (GRCm39) H605N probably benign Het
Washc1 T A 17: 66,426,055 (GRCm39) M451K possibly damaging Het
Washc3 G T 10: 88,051,937 (GRCm39) probably null Het
Washc5 A T 15: 59,240,308 (GRCm39) Y112N probably damaging Het
Zbtb40 T A 4: 136,744,638 (GRCm39) T261S probably benign 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
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'- GCACAGTCAGCGAACAAATG -3'
(R):5'- TTCCGGATGGTGAAAGAACAC -3'

Sequencing Primer
(F):5'- GCGAACAAATGCTAACAATAGGTC -3'
(R):5'- AACACTTACACTAGCTGGGTG -3'
Posted On 2019-11-26