Incidental Mutation 'R6963:Rfc5'
ID 557086
Institutional Source Beutler Lab
Gene Symbol Rfc5
Ensembl Gene ENSMUSG00000029363
Gene Name replication factor C (activator 1) 5
Synonyms Recc5, 2610209F07Rik, 2610020K06Rik, 36.5kDa, 36kDa
MMRRC Submission 045073-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6963 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 117517210-117527088 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 117525931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086461] [ENSMUST00000111953]
AlphaFold Q9D0F6
Predicted Effect probably null
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 null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,044,303 (GRCm39) H196Y probably damaging Het
Abi3 G A 11: 95,723,567 (GRCm39) probably benign Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Asgr1 T C 11: 69,946,794 (GRCm39) probably null Het
Atp2c2 C T 8: 120,457,006 (GRCm39) R203* probably null Het
Brms1 T A 19: 5,096,681 (GRCm39) I121N probably damaging Het
Ccdc149 G A 5: 52,596,439 (GRCm39) R58W probably damaging Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fry A G 5: 150,381,309 (GRCm39) T444A probably benign Het
Ggn A G 7: 28,871,007 (GRCm39) E142G probably damaging Het
Gm5150 A G 3: 16,060,555 (GRCm39) probably benign Het
Gm57858 A G 3: 36,104,811 (GRCm39) Y17H probably benign Het
Gp2 A G 7: 119,052,120 (GRCm39) V198A probably benign Het
Gstm3 A G 3: 107,874,940 (GRCm39) V104A probably benign Het
Idua A G 5: 108,827,641 (GRCm39) K152E possibly damaging Het
Igsf21 A G 4: 139,755,041 (GRCm39) S443P probably benign Het
Kdm5d C A Y: 937,975 (GRCm39) Q925K probably benign Het
Ly6k G C 15: 74,670,431 (GRCm39) P37R probably damaging Het
Mcm9 A G 10: 53,424,713 (GRCm39) S626P probably damaging Het
Mcoln2 A G 3: 145,877,790 (GRCm39) K137R probably damaging Het
Mctp2 T C 7: 71,877,804 (GRCm39) N298S probably damaging Het
Myo10 T C 15: 25,734,149 (GRCm39) I379T probably benign Het
Myo15b G T 11: 115,781,540 (GRCm39) probably null Het
Nrg1 A G 8: 32,407,690 (GRCm39) F181S probably benign Het
Or5b24 C T 19: 12,913,002 (GRCm39) A300V probably damaging Het
Pals2 T C 6: 50,140,635 (GRCm39) probably null Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scfd2 A G 5: 74,642,870 (GRCm39) V359A probably damaging Het
Skp2 T C 15: 9,139,515 (GRCm39) probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tekt2 T C 4: 126,218,110 (GRCm39) E134G probably damaging Het
Ttll4 T A 1: 74,720,975 (GRCm39) I547K probably damaging Het
Vmn1r4 T C 6: 56,933,769 (GRCm39) I91T probably damaging Het
Vmn2r93 T C 17: 18,536,849 (GRCm39) S511P probably damaging Het
Vps50 T C 6: 3,592,577 (GRCm39) probably null Het
Zeb2 T G 2: 44,878,811 (GRCm39) E1141A probably damaging Het
Zfp1002 A G 2: 150,097,265 (GRCm39) C55R probably damaging Het
Zfp326 T A 5: 106,059,359 (GRCm39) Y373* probably null Het
Other mutations in Rfc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02544:Rfc5 APN 5 117,524,931 (GRCm39) splice site probably benign
R2078:Rfc5 UTSW 5 117,518,868 (GRCm39) missense probably benign 0.01
R2431:Rfc5 UTSW 5 117,523,523 (GRCm39) missense probably damaging 1.00
R4787:Rfc5 UTSW 5 117,520,485 (GRCm39) missense probably benign 0.00
R4890:Rfc5 UTSW 5 117,524,885 (GRCm39) missense probably damaging 1.00
R6385:Rfc5 UTSW 5 117,523,463 (GRCm39) missense probably benign 0.03
R6386:Rfc5 UTSW 5 117,523,463 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGAGCCAAGCACTGTGAACC -3'
(R):5'- GCGAAGGGTTTCTCTTCCTCTG -3'

Sequencing Primer
(F):5'- AAGGTGCCTCAGTTAAGCC -3'
(R):5'- CCTCTGCTGCTTAGGATGTGAAG -3'
Posted On 2019-06-12