Incidental Mutation 'IGL03128:Orc5'
ID410214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orc5
Ensembl Gene ENSMUSG00000029012
Gene Nameorigin recognition complex, subunit 5
SynonymsMmORC5, mouse origin recognition complex 5, Orc5l
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL03128
Quality Score
Status
Chromosome5
Chromosomal Location22486485-22550429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 22516773 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 360 (D360E)
Ref Sequence ENSEMBL: ENSMUSP00000030872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030872]
Predicted Effect probably damaging
Transcript: ENSMUST00000030872
AA Change: D360E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: D360E

DomainStartEndE-ValueType
Pfam:AAA_16 7 155 2.4e-15 PFAM
Pfam:AAA_22 28 160 2.9e-9 PFAM
Pfam:ORC5_C 177 431 5.1e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199943
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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,182,003 L114M probably damaging Het
Bahcc1 G A 11: 120,268,434 probably benign Het
Btrc T A 19: 45,513,520 I226N probably damaging Het
Cth C T 3: 157,921,035 G56D probably damaging Het
Dkk2 T C 3: 132,177,860 probably benign Het
Dock3 A T 9: 107,032,292 M271K probably benign Het
Fam78b T A 1: 167,078,941 L223Q probably damaging Het
Fgl2 A T 5: 21,373,293 M193L probably benign Het
Ifi205 A T 1: 174,015,086 V348E probably damaging Het
Igkv4-70 T A 6: 69,268,014 K74N probably benign Het
Kdm3b A T 18: 34,827,427 K1355M probably damaging Het
Ltn1 A T 16: 87,415,944 N576K probably benign Het
Ms4a4c A T 19: 11,417,641 probably null Het
Nfic T C 10: 81,406,191 T328A probably benign Het
Npat T A 9: 53,550,033 probably benign Het
Nxpe2 T C 9: 48,319,498 I524V probably benign Het
Pappa2 C T 1: 158,936,484 E486K probably benign Het
Pde9a C T 17: 31,459,910 H216Y possibly damaging Het
Polr2k C A 15: 36,174,191 P31Q probably damaging Het
Prkdc G T 16: 15,700,744 probably benign Het
Raver1 A T 9: 21,080,742 L385Q probably damaging Het
Slc10a7 C A 8: 78,525,217 T80K probably damaging Het
Smg1 T C 7: 118,203,059 K272R probably benign Het
Supt20 A G 3: 54,708,287 I200V probably benign Het
Tbc1d9 A G 8: 83,166,085 N4S probably benign Het
Tor1aip1 A G 1: 156,007,035 S356P probably damaging Het
Trpm3 A G 19: 22,914,465 Y903C probably damaging Het
Vmn2r71 T G 7: 85,619,587 F333V probably damaging Het
Other mutations in Orc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Orc5 APN 5 22523539 missense probably damaging 0.99
IGL00488:Orc5 APN 5 22516773 missense probably damaging 0.99
IGL01915:Orc5 APN 5 22522383 unclassified probably benign
IGL02385:Orc5 APN 5 22526440 missense probably damaging 1.00
IGL02830:Orc5 APN 5 22529267 missense probably damaging 1.00
R0372:Orc5 UTSW 5 22533784 missense possibly damaging 0.91
R0446:Orc5 UTSW 5 22546457 missense probably benign 0.19
R2060:Orc5 UTSW 5 22516703 critical splice donor site probably null
R2144:Orc5 UTSW 5 22547927 missense possibly damaging 0.94
R2375:Orc5 UTSW 5 22546552 missense probably damaging 1.00
R3875:Orc5 UTSW 5 22537566 missense probably benign 0.00
R4620:Orc5 UTSW 5 22529176 missense probably damaging 1.00
R4625:Orc5 UTSW 5 22548005 missense probably benign
R4626:Orc5 UTSW 5 22548005 missense probably benign
R4627:Orc5 UTSW 5 22548005 missense probably benign
R4629:Orc5 UTSW 5 22548005 missense probably benign
R4664:Orc5 UTSW 5 22546522 missense probably benign
R5751:Orc5 UTSW 5 22499971 splice site probably null
R5758:Orc5 UTSW 5 22529258 missense possibly damaging 0.81
R7013:Orc5 UTSW 5 22533789 missense probably benign 0.16
R7326:Orc5 UTSW 5 22523584 missense probably benign 0.27
Posted On2016-08-02