Incidental Mutation 'IGL02713:Orc6'
ID 304660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orc6
Ensembl Gene ENSMUSG00000031697
Gene Name origin recognition complex, subunit 6
Synonyms 6720420I10Rik, Orc6l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02713
Quality Score
Status
Chromosome 8
Chromosomal Location 85299632-85308278 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85307586 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 146 (E146G)
Ref Sequence ENSEMBL: ENSMUSP00000126925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034132] [ENSMUST00000170141] [ENSMUST00000210146] [ENSMUST00000211396] [ENSMUST00000211597]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034132
AA Change: E222G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: E222G

DomainStartEndE-ValueType
Pfam:ORC6 6 108 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170141
AA Change: E146G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: E146G

DomainStartEndE-ValueType
PDB:3M03|C 18 111 2e-51 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000210146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210458
Predicted Effect probably benign
Transcript: ENSMUST00000211396
Predicted Effect probably benign
Transcript: ENSMUST00000211597
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp26c1 C T 19: 37,693,219 T490M probably damaging Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Esp4 T C 17: 40,602,406 F55L probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Ggt1 T C 10: 75,574,344 Y37H probably damaging Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Jph2 T C 2: 163,375,917 T280A probably damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr518 G A 7: 108,880,853 T251I probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably damaging Het
Other mutations in Orc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Orc6 APN 8 85307643 missense probably damaging 1.00
IGL02531:Orc6 APN 8 85303369 missense probably damaging 1.00
IGL02997:Orc6 APN 8 85306208 unclassified probably benign
R0685:Orc6 UTSW 8 85301154 missense possibly damaging 0.93
R1667:Orc6 UTSW 8 85305285 missense possibly damaging 0.94
R3619:Orc6 UTSW 8 85299994 critical splice donor site probably null
R3810:Orc6 UTSW 8 85299984 missense probably benign 0.05
R4707:Orc6 UTSW 8 85302950 missense probably damaging 1.00
R4784:Orc6 UTSW 8 85302950 missense probably damaging 1.00
R5743:Orc6 UTSW 8 85302956 missense probably benign 0.02
R7062:Orc6 UTSW 8 85302908 missense probably damaging 1.00
R7199:Orc6 UTSW 8 85302961 critical splice donor site probably null
R7803:Orc6 UTSW 8 85303408 missense possibly damaging 0.77
R7880:Orc6 UTSW 8 85305244 missense probably benign 0.01
R9512:Orc6 UTSW 8 85302893 missense
R9521:Orc6 UTSW 8 85299986 missense possibly damaging 0.95
R9620:Orc6 UTSW 8 85299801 start gained probably benign
Y5406:Orc6 UTSW 8 85307673 missense probably damaging 1.00
Posted On 2015-04-16