Incidental Mutation 'IGL02544:Rfc5'
ID297768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc5
Ensembl Gene ENSMUSG00000029363
Gene Namereplication factor C (activator 1) 5
Synonyms36.5kDa, 2610209F07Rik, 2610020K06Rik, 36kDa, Recc5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02544
Quality Score
Status
Chromosome5
Chromosomal Location117378103-117389047 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 117386866 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086461] [ENSMUST00000111953]
Predicted Effect probably benign
Transcript: ENSMUST00000086461
SMART Domains Protein: ENSMUSP00000083652
Gene: ENSMUSG00000029363

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
AAA 51 179 4.16e-14 SMART
Pfam:Rep_fac_C 241 327 1.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111953
SMART Domains Protein: ENSMUSP00000107584
Gene: ENSMUSG00000029363

DomainStartEndE-ValueType
Pfam:DUF815 3 105 4.8e-8 PFAM
Pfam:RuvB_N 10 100 3e-8 PFAM
Pfam:Rad17 14 110 9.5e-13 PFAM
Pfam:AAA_19 43 94 1.4e-8 PFAM
Pfam:AAA 55 103 2.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156391
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428F04Rik C T 8: 105,283,460 V286M probably benign Het
Aasdh A C 5: 76,902,114 S12A probably benign Het
Abcb5 A T 12: 118,906,268 probably benign Het
Acap3 G A 4: 155,892,410 E6K possibly damaging Het
Ano3 A T 2: 110,658,249 I946K possibly damaging Het
Arid1a A G 4: 133,681,748 V1816A unknown Het
Cacna1c C T 6: 118,751,479 G335R probably damaging Het
Ccnh C A 13: 85,202,341 Y118* probably null Het
Cep76 C T 18: 67,634,950 probably benign Het
Cyp2c65 T C 19: 39,090,638 V387A probably damaging Het
Dapk1 T G 13: 60,751,217 S834A probably benign Het
Ddx39 T C 8: 83,722,773 S367P probably benign Het
Dicer1 A G 12: 104,714,832 I474T probably damaging Het
Dnah10 G A 5: 124,799,005 R2579H probably benign Het
Dnajc16 T C 4: 141,764,647 N622D probably damaging Het
Eif3c G T 7: 126,547,612 S799* probably null Het
Fbxo9 A G 9: 78,087,259 Y259H probably damaging Het
Fpr-rs4 A T 17: 18,022,211 H160L probably benign Het
Galc A T 12: 98,231,442 V336D probably benign Het
Gm14548 T A 7: 3,897,186 Y139F probably damaging Het
Mfrp T C 9: 44,102,794 L153P probably damaging Het
Mtx1 C A 3: 89,210,396 W30L probably damaging Het
Mysm1 A T 4: 94,952,306 D624E probably damaging Het
Naa16 A G 14: 79,335,820 F837L probably damaging Het
Olfr1118 C T 2: 87,309,127 R113C possibly damaging Het
Olfr193 A T 16: 59,110,144 H155Q probably damaging Het
Olfr346 A G 2: 36,688,836 Y278C probably damaging Het
Olfr705 T C 7: 106,714,535 I49V probably benign Het
Pde4d G T 13: 109,740,523 D137Y probably damaging Het
Pik3r1 G T 13: 101,687,276 R534S probably damaging Het
Plekha5 A C 6: 140,589,728 E239A possibly damaging Het
Psap G T 10: 60,300,626 probably benign Het
Rap2b T C 3: 61,365,139 F28S probably damaging Het
Ryr1 C T 7: 29,115,599 D175N probably benign Het
Sbno1 T G 5: 124,403,983 I370L probably damaging Het
Slc17a6 T A 7: 51,666,155 C390* probably null Het
Srsf7 A T 17: 80,204,191 probably benign Het
Tbc1d10c C T 19: 4,187,960 D272N probably benign Het
Tll2 A G 19: 41,135,965 F204L probably damaging Het
Tmc1 T A 19: 20,906,963 T38S probably benign Het
Tmem184b A T 15: 79,365,807 I256K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trip11 G A 12: 101,893,521 R365W probably damaging Het
Ubr4 C T 4: 139,415,118 P1339S probably damaging Het
Vmn2r83 T A 10: 79,481,459 probably benign Het
Other mutations in Rfc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2078:Rfc5 UTSW 5 117380803 missense probably benign 0.01
R2431:Rfc5 UTSW 5 117385458 missense probably damaging 1.00
R4787:Rfc5 UTSW 5 117382420 missense probably benign 0.00
R4890:Rfc5 UTSW 5 117386820 missense probably damaging 1.00
R6385:Rfc5 UTSW 5 117385398 missense probably benign 0.03
R6386:Rfc5 UTSW 5 117385398 missense probably benign 0.03
R6963:Rfc5 UTSW 5 117387866 splice site probably null
Posted On2015-04-16