Incidental Mutation 'R2078:Rfc5'
ID 229270
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 040083-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R2078 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 117517210-117527088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117518868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 296 (V296A)
Ref Sequence ENSEMBL: ENSMUSP00000083652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000086461] [ENSMUST00000111959]
AlphaFold Q9D0F6
Predicted Effect probably benign
Transcript: ENSMUST00000031309
SMART Domains Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:WD40 17 54 5e-17 BLAST
WD40 81 139 3.57e0 SMART
WD40 142 182 1.43e-9 SMART
WD40 186 225 1.59e-7 SMART
WD40 228 267 7.16e-10 SMART
WD40 270 321 6.53e-4 SMART
WD40 324 361 6.42e-1 SMART
SOCS 360 403 5.56e-17 SMART
SOCS_box 366 402 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086461
AA Change: V296A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083652
Gene: ENSMUSG00000029363
AA Change: V296A

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: ENSMUST00000111959
SMART Domains Protein: ENSMUSP00000107590
Gene: ENSMUSG00000029364

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Blast:WD40 18 56 7e-18 BLAST
WD40 83 141 3.57e0 SMART
WD40 144 184 1.43e-9 SMART
WD40 188 227 1.59e-7 SMART
WD40 230 269 7.16e-10 SMART
WD40 272 323 6.53e-4 SMART
WD40 326 363 6.42e-1 SMART
SOCS 362 405 5.56e-17 SMART
SOCS_box 368 404 1.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149669
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,148,780 (GRCm39) G55C probably damaging Het
Acss3 T C 10: 106,802,902 (GRCm39) T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 (GRCm38) N138D probably damaging Het
Cacna2d4 A T 6: 119,315,077 (GRCm39) D869V probably benign Het
Cps1 T G 1: 67,196,965 (GRCm39) Y339D probably damaging Het
Cps1 T C 1: 67,234,424 (GRCm39) I937T possibly damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dusp6 T C 10: 99,099,686 (GRCm39) Y45H probably damaging Het
Ebag9 A G 15: 44,500,200 (GRCm39) N157S probably damaging Het
Exoc4 A G 6: 33,887,522 (GRCm39) D770G probably benign Het
Ezr A G 17: 7,050,041 (GRCm39) M1T probably null Het
Fat4 A G 3: 38,943,822 (GRCm39) N905S probably damaging Het
Fcrlb C G 1: 170,735,650 (GRCm39) R208P probably damaging Het
Flnb T C 14: 7,927,466 (GRCm38) V1892A probably damaging Het
Gas2 G A 7: 51,547,073 (GRCm39) V75M probably benign Het
Gda T A 19: 21,378,036 (GRCm39) D267V probably damaging Het
Gper1 A T 5: 139,411,888 (GRCm39) I78F probably benign Het
Hectd1 A C 12: 51,795,325 (GRCm39) I2368S probably damaging Het
Katna1 C T 10: 7,619,333 (GRCm39) P114S probably benign Het
Lce3c G A 3: 92,852,758 (GRCm39) S73N unknown Het
Lrfn3 A T 7: 30,059,879 (GRCm39) D115E possibly damaging Het
Lrrc47 C A 4: 154,103,888 (GRCm39) T505K probably damaging Het
Mertk C T 2: 128,636,378 (GRCm39) T784I probably damaging Het
Mettl21e T A 1: 44,245,662 (GRCm39) I195F possibly damaging Het
Mff T C 1: 82,719,642 (GRCm39) S207P probably damaging Het
Mtmr6 A G 14: 60,529,436 (GRCm39) probably null Het
Myh9 T C 15: 77,648,112 (GRCm39) K1788R probably benign Het
Narf A G 11: 121,136,220 (GRCm39) T199A probably benign Het
Neurod6 A G 6: 55,655,954 (GRCm39) S228P probably benign Het
Notch4 A T 17: 34,787,689 (GRCm39) probably null Het
Nyap2 T C 1: 81,169,696 (GRCm39) L151P probably damaging Het
Or5b21 T A 19: 12,839,751 (GRCm39) V204E probably benign Het
P2ry1 A G 3: 60,911,118 (GRCm39) I86V probably damaging Het
Pafah1b2 G T 9: 45,880,127 (GRCm39) D183E probably damaging Het
Phldb1 T C 9: 44,619,276 (GRCm39) E179G probably damaging Het
Piezo2 T C 18: 63,250,791 (GRCm39) E436G probably damaging Het
Pkhd1l1 A G 15: 44,391,163 (GRCm39) I1514V probably benign Het
Plch1 A G 3: 63,609,364 (GRCm39) S948P probably benign Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rsbn1 A G 3: 103,868,839 (GRCm39) D626G probably damaging Het
Sfswap A G 5: 129,593,171 (GRCm39) D346G possibly damaging Het
Slc38a11 A T 2: 65,160,728 (GRCm39) F289I possibly damaging Het
Terf2ip A G 8: 112,742,035 (GRCm39) N243S probably benign Het
Tmed5 A T 5: 108,272,471 (GRCm39) V209E probably damaging Het
Tmem63b A G 17: 45,974,462 (GRCm39) S603P possibly damaging Het
Tomm20 T C 8: 127,663,822 (GRCm39) M121V possibly damaging Het
Tspan33 G A 6: 29,709,970 (GRCm39) V45I probably benign Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Vsig8 C A 1: 172,390,856 (GRCm39) D301E probably benign Het
Vwa8 T A 14: 79,145,597 (GRCm39) H91Q probably damaging Het
Other mutations in Rfc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02544:Rfc5 APN 5 117,524,931 (GRCm39) splice site probably benign
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
R6963:Rfc5 UTSW 5 117,525,931 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATCTCCAGACGACCTGCATG -3'
(R):5'- TCTCATGATCTGTATGCATGGGTC -3'

Sequencing Primer
(F):5'- TGCGCTCATCATCCTCACACAG -3'
(R):5'- ATGCATGGGTCTGAGGGATGC -3'
Posted On 2014-09-17