Incidental Mutation 'IGL02544:Rfc5'
ID 297768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc5
Ensembl Gene ENSMUSG00000029363
Gene Name replication factor C (activator 1) 5
Synonyms Recc5, 2610209F07Rik, 2610020K06Rik, 36.5kDa, 36kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL02544
Quality Score
Status
Chromosome 5
Chromosomal Location 117517210-117527088 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 117524931 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 benign
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 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: ENSMUST00000140833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156391
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A C 5: 77,049,961 (GRCm39) S12A probably benign Het
Abcb5 A T 12: 118,870,003 (GRCm39) probably benign Het
Acap3 G A 4: 155,976,867 (GRCm39) E6K possibly damaging Het
Ano3 A T 2: 110,488,594 (GRCm39) I946K possibly damaging Het
Arid1a A G 4: 133,409,059 (GRCm39) V1816A unknown Het
Cacna1c C T 6: 118,728,440 (GRCm39) G335R probably damaging Het
Ccnh C A 13: 85,350,460 (GRCm39) Y118* probably null Het
Cep76 C T 18: 67,768,020 (GRCm39) probably benign Het
Cyp2c65 T C 19: 39,079,082 (GRCm39) V387A probably damaging Het
Dapk1 T G 13: 60,899,031 (GRCm39) S834A probably benign Het
Ddx39a T C 8: 84,449,402 (GRCm39) S367P probably benign Het
Dicer1 A G 12: 104,681,091 (GRCm39) I474T probably damaging Het
Dnah10 G A 5: 124,876,069 (GRCm39) R2579H probably benign Het
Dnajc16 T C 4: 141,491,958 (GRCm39) N622D probably damaging Het
Eif3c G T 7: 126,146,784 (GRCm39) S799* probably null Het
Fbxo9 A G 9: 77,994,541 (GRCm39) Y259H probably damaging Het
Fpr-rs4 A T 17: 18,242,473 (GRCm39) H160L probably benign Het
Galc A T 12: 98,197,701 (GRCm39) V336D probably benign Het
Matcap1 C T 8: 106,010,092 (GRCm39) V286M probably benign Het
Mfrp T C 9: 44,014,091 (GRCm39) L153P probably damaging Het
Mtx1 C A 3: 89,117,703 (GRCm39) W30L probably damaging Het
Mysm1 A T 4: 94,840,543 (GRCm39) D624E probably damaging Het
Naa16 A G 14: 79,573,260 (GRCm39) F837L probably damaging Het
Or10ag56 C T 2: 87,139,471 (GRCm39) R113C possibly damaging Het
Or1j17 A G 2: 36,578,848 (GRCm39) Y278C probably damaging Het
Or2ag1 T C 7: 106,313,742 (GRCm39) I49V probably benign Het
Or5h25 A T 16: 58,930,507 (GRCm39) H155Q probably damaging Het
Pde4d G T 13: 109,877,057 (GRCm39) D137Y probably damaging Het
Pik3r1 G T 13: 101,823,784 (GRCm39) R534S probably damaging Het
Pira12 T A 7: 3,900,185 (GRCm39) Y139F probably damaging Het
Plekha5 A C 6: 140,535,454 (GRCm39) E239A possibly damaging Het
Psap G T 10: 60,136,405 (GRCm39) probably benign Het
Rap2b T C 3: 61,272,560 (GRCm39) F28S probably damaging Het
Ryr1 C T 7: 28,815,024 (GRCm39) D175N probably benign Het
Sbno1 T G 5: 124,542,046 (GRCm39) I370L probably damaging Het
Slc17a6 T A 7: 51,315,903 (GRCm39) C390* probably null Het
Srsf7 A T 17: 80,511,620 (GRCm39) probably benign Het
Tbc1d10c C T 19: 4,237,959 (GRCm39) D272N probably benign Het
Tll2 A G 19: 41,124,404 (GRCm39) F204L probably damaging Het
Tmc1 T A 19: 20,884,327 (GRCm39) T38S probably benign Het
Tmem184b A T 15: 79,250,007 (GRCm39) I256K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trip11 G A 12: 101,859,780 (GRCm39) R365W probably damaging Het
Ubr4 C T 4: 139,142,429 (GRCm39) P1339S probably damaging Het
Vmn2r83 T A 10: 79,317,293 (GRCm39) probably benign Het
Other mutations in Rfc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6963:Rfc5 UTSW 5 117,525,931 (GRCm39) splice site probably null
Posted On 2015-04-16