Incidental Mutation 'R7693:Rfc4'
ID593514
Institutional Source Beutler Lab
Gene Symbol Rfc4
Ensembl Gene ENSMUSG00000022881
Gene Namereplication factor C (activator 1) 4
SynonymsA1, RFC37
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #R7693 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location23113943-23127737 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23127413 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 40 (W40R)
Ref Sequence ENSEMBL: ENSMUSP00000110995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000115337] [ENSMUST00000115338] [ENSMUST00000133847]
Predicted Effect probably damaging
Transcript: ENSMUST00000023598
AA Change: W40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: W40R

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 267 356 2.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115337
AA Change: W40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881
AA Change: W40R

DomainStartEndE-ValueType
SCOP:d1iqpa2 29 67 2e-5 SMART
PDB:1SXJ|D 39 76 4e-8 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000115338
AA Change: W40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: W40R

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 269 344 3.5e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133847
AA Change: W40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: W40R

DomainStartEndE-ValueType
Pfam:Rad17 32 97 3.7e-9 PFAM
Pfam:AAA 74 98 2.4e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik T C 5: 24,546,628 I541V probably benign Het
Abcc8 C A 7: 46,178,544 S63I probably damaging Het
Adcy10 A G 1: 165,570,771 E1479G probably benign Het
Alpl C T 4: 137,743,809 G339R probably damaging Het
Anapc1 A G 2: 128,641,537 S1213P possibly damaging Het
Aoc3 C A 11: 101,332,512 H525N probably benign Het
Arhgap33 A T 7: 30,526,112 probably null Het
Arhgef4 A G 1: 34,724,141 E826G probably benign Het
Art2a-ps A T 7: 101,554,849 *161R probably null Het
Azi2 A T 9: 118,047,593 N59I probably damaging Het
Cdhr5 T C 7: 141,271,778 T538A probably benign Het
Csnk2b C A 17: 35,117,996 G123C probably null Het
Dnaja2 G T 8: 85,540,310 P306Q probably damaging Het
Dusp19 A G 2: 80,617,561 T60A probably benign Het
Epm2aip1 G A 9: 111,272,375 G139S probably benign Het
Fer1l4 A G 2: 156,020,431 F1774S possibly damaging Het
Fxyd3 T A 7: 31,071,173 R66S probably benign Het
Gjd2 T C 2: 114,011,828 N56S probably damaging Het
Gmcl1 A G 6: 86,714,257 I252T probably benign Het
Gnl1 T C 17: 35,988,220 C517R probably damaging Het
Grin1 T A 2: 25,318,667 M74L possibly damaging Het
Hinfp A G 9: 44,298,345 M244T probably damaging Het
Ick A G 9: 78,157,726 D306G probably benign Het
Kcnma1 T A 14: 23,367,612 I850F probably damaging Het
Kif13a G T 13: 46,750,613 T1748N probably benign Het
Lama1 C T 17: 67,817,031 A2817V Het
Map6 C T 7: 99,336,292 L671F possibly damaging Het
Neb C T 2: 52,299,569 A770T probably damaging Het
Noc2l T A 4: 156,240,307 H280Q probably damaging Het
Ntrk1 T C 3: 87,788,426 D205G probably benign Het
Olfr1030 A T 2: 85,984,635 Y265F probably damaging Het
Olfr1353 A T 10: 78,970,303 Y218F probably damaging Het
Parp9 A G 16: 35,956,912 S409G possibly damaging Het
Pcnx2 G A 8: 125,887,125 T529I probably benign Het
Popdc3 A G 10: 45,315,131 S113G probably benign Het
Rbm8a T C 3: 96,630,308 I25T probably damaging Het
Rp1 T C 1: 4,347,403 D1162G probably damaging Het
Slc14a2 G A 18: 78,154,003 A846V possibly damaging Het
Spx A G 6: 142,414,790 D56G probably damaging Het
Tanc2 T A 11: 105,923,467 N1912K probably damaging Het
Tmcc1 T C 6: 116,024,882 I559V Het
Tnfaip3 A G 10: 19,004,780 V513A probably benign Het
Ucp3 T C 7: 100,482,592 F217L probably benign Het
Wdr92 T C 11: 17,212,064 V34A probably benign Het
Zc3h11a A T 1: 133,645,737 M55K probably damaging Het
Zfp316 G A 5: 143,263,412 T156I unknown Het
Other mutations in Rfc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Rfc4 APN 16 23115776 missense probably damaging 1.00
IGL01625:Rfc4 APN 16 23115823 missense probably damaging 1.00
IGL02238:Rfc4 APN 16 23114469 missense probably damaging 0.99
IGL02693:Rfc4 APN 16 23114210 missense probably damaging 1.00
rifraf UTSW 16 23114073 makesense probably null
R0094:Rfc4 UTSW 16 23115428 missense probably benign 0.03
R0230:Rfc4 UTSW 16 23114099 nonsense probably null
R1493:Rfc4 UTSW 16 23118008 missense probably damaging 1.00
R1699:Rfc4 UTSW 16 23114233 missense probably benign 0.00
R2119:Rfc4 UTSW 16 23124564 missense probably damaging 1.00
R2194:Rfc4 UTSW 16 23114152 unclassified probably benign
R4575:Rfc4 UTSW 16 23114429 unclassified probably benign
R5097:Rfc4 UTSW 16 23114296 missense possibly damaging 0.82
R5495:Rfc4 UTSW 16 23122254 intron probably benign
R6118:Rfc4 UTSW 16 23120943 missense probably damaging 1.00
R6160:Rfc4 UTSW 16 23114683 missense probably damaging 1.00
R6232:Rfc4 UTSW 16 23114090 unclassified probably benign
R6281:Rfc4 UTSW 16 23118066 splice site probably null
R6310:Rfc4 UTSW 16 23114709 missense probably benign 0.37
R6409:Rfc4 UTSW 16 23114073 makesense probably null
R6411:Rfc4 UTSW 16 23114073 makesense probably null
R7161:Rfc4 UTSW 16 23115433 missense probably benign 0.03
R7202:Rfc4 UTSW 16 23127609 start gained probably benign
R7951:Rfc4 UTSW 16 23115385 missense probably benign 0.34
RF010:Rfc4 UTSW 16 23127482 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTAGGGCTCTAAAACTGTACAC -3'
(R):5'- GAGCTGCCCCATAATGGTTTC -3'

Sequencing Primer
(F):5'- AATTCAACTACTGTATCACTCCAAGG -3'
(R):5'- CTTTTTGTCTTATACCCAGGAGAAG -3'
Posted On2019-11-12