Incidental Mutation 'R6385:Rfc5'
ID 515548
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 044534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6385 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 117517210-117527088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117523463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000083652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086461] [ENSMUST00000111953]
AlphaFold Q9D0F6
Predicted Effect probably benign
Transcript: ENSMUST00000086461
AA Change: T112A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000083652
Gene: ENSMUSG00000029363
AA Change: T112A

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: ENSMUST00000129369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156391
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,236 (GRCm39) M910L probably benign Het
Abca9 T A 11: 110,025,080 (GRCm39) I988F probably damaging Het
Adgra2 A T 8: 27,608,878 (GRCm39) S92C probably damaging Het
Apon A G 10: 128,090,223 (GRCm39) probably benign Het
Arap3 G A 18: 38,130,084 (GRCm39) R26* probably null Het
Btnl6 T G 17: 34,727,343 (GRCm39) I396L probably benign Het
Catsper3 G T 13: 55,934,239 (GRCm39) Q53H probably damaging Het
Cep164 T G 9: 45,691,081 (GRCm39) E372A probably damaging Het
Cln3 A T 7: 126,174,207 (GRCm39) C339S probably null Het
Cntnap2 G A 6: 46,833,114 (GRCm39) D776N probably benign Het
Cttnbp2nl A G 3: 104,912,952 (GRCm39) F311L probably benign Het
Daam2 C T 17: 49,770,964 (GRCm39) A918T probably damaging Het
Dst T C 1: 34,346,549 (GRCm39) V7353A possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fanca A T 8: 124,032,606 (GRCm39) probably null Het
Filip1 G T 9: 79,727,813 (GRCm39) Q269K possibly damaging Het
Fut9 G A 4: 25,620,328 (GRCm39) S162L probably damaging Het
Gtf2ird1 A T 5: 134,433,544 (GRCm39) H294Q probably benign Het
Gucy1a1 A G 3: 82,016,313 (GRCm39) I225T probably benign Het
H2-DMb1 T A 17: 34,374,576 (GRCm39) N75K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hes1 A G 16: 29,884,424 (GRCm39) M6V possibly damaging Het
Hydin A T 8: 111,038,856 (GRCm39) H198L possibly damaging Het
Iars1 T C 13: 49,855,371 (GRCm39) L266P probably damaging Het
Ifna11 A G 4: 88,738,386 (GRCm39) E64G probably damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lama5 T C 2: 179,838,326 (GRCm39) T850A probably damaging Het
Lgi3 A G 14: 70,768,610 (GRCm39) T36A possibly damaging Het
Lrp2 T C 2: 69,326,128 (GRCm39) S1810G probably benign Het
Lypd10 A T 7: 24,413,535 (GRCm39) I184F probably damaging Het
Msln T A 17: 25,970,115 (GRCm39) D280V probably benign Het
Myh4 A T 11: 67,146,663 (GRCm39) I1513F probably damaging Het
Ncf2 A T 1: 152,706,173 (GRCm39) M262L probably benign Het
Neb G T 2: 52,075,311 (GRCm39) A218D probably damaging Het
Notch4 C A 17: 34,792,788 (GRCm39) Q640K probably null Het
Or4f7 T C 2: 111,644,964 (GRCm39) I36V probably benign Het
Or52e19b A T 7: 103,033,104 (GRCm39) V35D possibly damaging Het
Or6k6 A T 1: 173,944,862 (GRCm39) F240Y probably damaging Het
Pear1 G T 3: 87,661,506 (GRCm39) H562N probably benign Het
Poli C A 18: 70,663,072 (GRCm39) probably benign Het
Ppp3r2 A G 4: 49,681,767 (GRCm39) I61T possibly damaging Het
Serhl A G 15: 82,985,823 (GRCm39) T5A probably benign Het
Shank3 T C 15: 89,405,578 (GRCm39) probably null Het
Slc22a28 A G 19: 8,078,844 (GRCm39) S282P probably damaging Het
Slc2a12 C T 10: 22,569,929 (GRCm39) T540I possibly damaging Het
Slurp2 T C 15: 74,618,524 (GRCm39) M1V probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tln2 C T 9: 67,185,411 (GRCm39) A700T probably benign Het
Ttn C T 2: 76,748,192 (GRCm39) V4286I probably benign Het
Ube2u A G 4: 100,389,341 (GRCm39) K214R possibly damaging Het
Vmn1r46 A G 6: 89,953,427 (GRCm39) H92R probably damaging Het
Wdr90 A G 17: 26,067,504 (GRCm39) I1486T probably damaging Het
Zc3h11a A T 1: 133,565,192 (GRCm39) S236T possibly damaging Het
Zfp318 A G 17: 46,721,932 (GRCm39) K1312E probably damaging Het
Zfp930 A G 8: 69,681,283 (GRCm39) Y326C probably damaging Het
Zfp972 G T 2: 177,563,588 (GRCm39) D8E probably damaging 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
R6386:Rfc5 UTSW 5 117,523,463 (GRCm39) missense probably benign 0.03
R6963:Rfc5 UTSW 5 117,525,931 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GTACTGGATGTGACTCCCAG -3'
(R):5'- AGCTGTCATTAGACCTGAATGG -3'

Sequencing Primer
(F):5'- AAGGCTCATGGAGTCCTCTATC -3'
(R):5'- CATTAGACCTGAATGGCTGGC -3'
Posted On 2018-05-04