Incidental Mutation 'R2096:Rfc3'
ID 232100
Institutional Source Beutler Lab
Gene Symbol Rfc3
Ensembl Gene ENSMUSG00000033970
Gene Name replication factor C (activator 1) 3
Synonyms 38kDa, 38kDa, 2810416I22Rik, Recc3
MMRRC Submission 040100-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R2096 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 151566282-151574673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151568383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 194 (S194R)
Ref Sequence ENSEMBL: ENSMUSP00000039621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038131]
AlphaFold Q8R323
Predicted Effect probably benign
Transcript: ENSMUST00000038131
AA Change: S194R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: S194R

DomainStartEndE-ValueType
AAA 34 190 1.5e-6 SMART
Pfam:Rep_fac_C 216 338 7.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156667
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,709,195 (GRCm39) S120P probably benign Het
Actr3b T A 5: 26,036,743 (GRCm39) Y185* probably null Het
Atg101 T A 15: 101,188,382 (GRCm39) H162Q possibly damaging Het
Btf3 T A 13: 98,449,659 (GRCm39) Q109L possibly damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Capn7 T G 14: 31,071,844 (GRCm39) probably null Het
Cd209f A G 8: 4,155,537 (GRCm39) V17A probably benign Het
Cenpf A G 1: 189,385,656 (GRCm39) V2208A possibly damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Comp T C 8: 70,828,713 (GRCm39) C182R probably damaging Het
Ctsl A G 13: 64,516,840 (GRCm39) probably null Het
Cyp3a44 G T 5: 145,725,215 (GRCm39) Q329K probably damaging Het
Dcpp1 A T 17: 24,099,971 (GRCm39) probably null Het
Dhx38 A G 8: 110,280,891 (GRCm39) V831A probably damaging Het
Dkk2 T C 3: 131,791,858 (GRCm39) M22T probably benign Het
Dnah2 C T 11: 69,346,742 (GRCm39) E2615K probably damaging Het
Dpy19l3 A G 7: 35,426,713 (GRCm39) probably null Het
Gm12888 T G 4: 121,176,655 (GRCm39) I49L probably benign Het
Insyn2b C A 11: 34,352,936 (GRCm39) S326Y probably benign Het
Kif15 T A 9: 122,815,252 (GRCm39) M194K probably damaging Het
Mael G T 1: 166,053,244 (GRCm39) Q254K probably benign Het
Nek9 T C 12: 85,361,322 (GRCm39) D461G probably benign Het
Nlrp12 T C 7: 3,281,825 (GRCm39) N819S probably benign Het
Ntng1 T A 3: 109,739,871 (GRCm39) N390Y probably damaging Het
Or5g25 A G 2: 85,478,434 (GRCm39) I77T probably benign Het
P2ry14 C T 3: 59,022,738 (GRCm39) V250I probably damaging Het
Pcnx2 A T 8: 126,485,987 (GRCm39) D1870E probably benign Het
Phf2 T A 13: 48,985,589 (GRCm39) K64* probably null Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ppa2 A G 3: 133,032,445 (GRCm39) T97A probably damaging Het
Psd G A 19: 46,313,088 (GRCm39) probably null Het
Psg23 T A 7: 18,348,668 (GRCm39) E46D probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rab11b A G 17: 33,967,976 (GRCm39) Y74H probably damaging Het
Sema4d A T 13: 51,864,037 (GRCm39) I414N probably damaging Het
Serpinb1a A T 13: 33,031,437 (GRCm39) D120E probably damaging Het
Snai2 T A 16: 14,524,861 (GRCm39) H122Q possibly damaging Het
Spats2l T C 1: 57,985,458 (GRCm39) S504P probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Sspo G T 6: 48,438,608 (GRCm39) V1559L probably benign Het
Tas2r118 T G 6: 23,969,912 (GRCm39) I50L possibly damaging Het
Tdrd3 C T 14: 87,743,788 (GRCm39) Q573* probably null Het
Thoc2l T C 5: 104,667,835 (GRCm39) S786P possibly damaging Het
Tlnrd1 G A 7: 83,532,062 (GRCm39) T123I probably benign Het
Tmem214 T A 5: 31,033,714 (GRCm39) L555H probably damaging Het
Tmprss12 T A 15: 100,183,117 (GRCm39) M153K probably benign Het
Tmprss9 G A 10: 80,725,268 (GRCm39) G410S probably damaging Het
Trpm6 T A 19: 18,803,116 (GRCm39) M853K probably damaging Het
Vmn1r35 A G 6: 66,655,929 (GRCm39) I247T possibly damaging Het
Zcchc7 C A 4: 44,931,059 (GRCm39) P404T probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Rfc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Rfc3 APN 5 151,566,401 (GRCm39) missense probably benign 0.00
IGL02429:Rfc3 APN 5 151,574,596 (GRCm39) missense probably benign 0.01
IGL02588:Rfc3 APN 5 151,566,381 (GRCm39) missense possibly damaging 0.69
IGL02878:Rfc3 APN 5 151,566,379 (GRCm39) makesense probably null
IGL03109:Rfc3 APN 5 151,566,559 (GRCm39) missense probably benign 0.10
R0129:Rfc3 UTSW 5 151,574,616 (GRCm39) start codon destroyed probably null 1.00
R0456:Rfc3 UTSW 5 151,570,988 (GRCm39) missense possibly damaging 0.61
R2015:Rfc3 UTSW 5 151,571,003 (GRCm39) critical splice acceptor site probably null
R2306:Rfc3 UTSW 5 151,567,243 (GRCm39) missense probably damaging 1.00
R4223:Rfc3 UTSW 5 151,574,637 (GRCm39) start gained probably benign
R4739:Rfc3 UTSW 5 151,568,241 (GRCm39) splice site probably benign
R4906:Rfc3 UTSW 5 151,570,960 (GRCm39) missense probably damaging 0.98
R4945:Rfc3 UTSW 5 151,566,450 (GRCm39) missense probably damaging 1.00
R5643:Rfc3 UTSW 5 151,573,444 (GRCm39) missense probably benign 0.05
R5644:Rfc3 UTSW 5 151,573,444 (GRCm39) missense probably benign 0.05
R6011:Rfc3 UTSW 5 151,567,184 (GRCm39) missense probably damaging 1.00
R6181:Rfc3 UTSW 5 151,570,985 (GRCm39) missense probably damaging 1.00
R6885:Rfc3 UTSW 5 151,571,749 (GRCm39) missense probably benign 0.00
R7509:Rfc3 UTSW 5 151,570,975 (GRCm39) missense probably damaging 1.00
R7587:Rfc3 UTSW 5 151,574,616 (GRCm39) start codon destroyed probably null 1.00
R8346:Rfc3 UTSW 5 151,569,100 (GRCm39) missense probably damaging 1.00
R8414:Rfc3 UTSW 5 151,568,381 (GRCm39) missense possibly damaging 0.94
R9140:Rfc3 UTSW 5 151,568,141 (GRCm39) missense probably benign 0.17
R9492:Rfc3 UTSW 5 151,566,411 (GRCm39) missense probably damaging 0.99
Z1088:Rfc3 UTSW 5 151,568,327 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGTCTCATGTCCCAGAGTGC -3'
(R):5'- ACAGCTTTCCAACTCACAGTAG -3'

Sequencing Primer
(F):5'- AGAGTGCTACCTGCTGCCATAG -3'
(R):5'- GCTTTCCAACTCACAGTAGATAGTGG -3'
Posted On 2014-09-18