Incidental Mutation 'IGL01286:Rfc2'
ID 72731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc2
Ensembl Gene ENSMUSG00000023104
Gene Name replication factor C (activator 1) 2
Synonyms Recc2, 40kDa, 2610008M13Rik, 40kDa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01286
Quality Score
Status
Chromosome 5
Chromosomal Location 134611544-134627182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134618243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 82 (L82P)
Ref Sequence ENSEMBL: ENSMUSP00000023867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023867]
AlphaFold Q9WUK4
Predicted Effect probably damaging
Transcript: ENSMUST00000023867
AA Change: L82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023867
Gene: ENSMUSG00000023104
AA Change: L82P

DomainStartEndE-ValueType
AAA 63 189 9.42e-13 SMART
Pfam:Rep_fac_C 253 338 3.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200767
Predicted Effect probably benign
Transcript: ENSMUST00000201258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202761
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 a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 (GRCm39) C214S possibly damaging Het
Ankrd26 A T 6: 118,536,068 (GRCm39) V122E probably damaging Het
Blnk T C 19: 40,922,950 (GRCm39) K389R probably benign Het
Cdcp3 A T 7: 130,848,432 (GRCm39) N862I probably damaging Het
Cdh11 T A 8: 103,391,261 (GRCm39) Q325L probably damaging Het
Cep112 T C 11: 108,750,235 (GRCm39) probably null Het
Cmtr2 T A 8: 110,949,484 (GRCm39) I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 (GRCm39) E857D unknown Het
Col2a1 G A 15: 97,892,759 (GRCm39) P237L unknown Het
Commd2 G A 3: 57,558,143 (GRCm39) T66M probably benign Het
Cyp2c50 A T 19: 40,080,728 (GRCm39) K241N probably benign Het
Fbxo2 A G 4: 148,250,163 (GRCm39) N231S probably benign Het
Grm5 T C 7: 87,251,773 (GRCm39) S8P probably benign Het
Ip6k1 A G 9: 107,923,082 (GRCm39) T405A probably benign Het
Kel G T 6: 41,665,051 (GRCm39) probably null Het
Lin54 T C 5: 100,633,466 (GRCm39) T73A probably benign Het
Nek1 T A 8: 61,577,250 (GRCm39) V1052D possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or6c6 T A 10: 129,186,519 (GRCm39) L29H probably damaging Het
Pcid2 T C 8: 13,140,660 (GRCm39) D155G probably damaging Het
Ptchd1 T C X: 154,357,820 (GRCm39) T462A possibly damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Sh3rf2 T C 18: 42,272,676 (GRCm39) probably null Het
Sis A T 3: 72,848,358 (GRCm39) W639R probably damaging Het
Tbcd T C 11: 121,384,719 (GRCm39) probably null Het
Tert G A 13: 73,776,416 (GRCm39) R389H possibly damaging Het
Tns3 C T 11: 8,442,617 (GRCm39) S582N probably benign Het
Tssk2 C T 16: 17,716,822 (GRCm39) T75I probably benign Het
Txnl4a C T 18: 80,261,956 (GRCm39) T64I probably benign Het
Xpot T C 10: 121,438,243 (GRCm39) D782G probably benign Het
Other mutations in Rfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Rfc2 APN 5 134,623,098 (GRCm39) missense probably benign 0.23
R0099:Rfc2 UTSW 5 134,624,135 (GRCm39) critical splice acceptor site probably null
R1314:Rfc2 UTSW 5 134,620,054 (GRCm39) missense probably damaging 1.00
R6026:Rfc2 UTSW 5 134,624,185 (GRCm39) missense probably damaging 0.99
R6995:Rfc2 UTSW 5 134,623,104 (GRCm39) nonsense probably null
R7733:Rfc2 UTSW 5 134,622,070 (GRCm39) missense probably damaging 1.00
R8490:Rfc2 UTSW 5 134,611,698 (GRCm39) nonsense probably null
R9568:Rfc2 UTSW 5 134,622,112 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07