Incidental Mutation 'IGL02041:Rfc2'
ID 184740
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 # IGL02041
Quality Score
Status
Chromosome 5
Chromosomal Location 134611544-134627182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134623098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 238 (F238L)
Ref Sequence ENSEMBL: ENSMUSP00000023867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023867]
AlphaFold Q9WUK4
Predicted Effect probably benign
Transcript: ENSMUST00000023867
AA Change: F238L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023867
Gene: ENSMUSG00000023104
AA Change: F238L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,674 (GRCm39) Q28L probably damaging Het
Abtb3 G A 10: 85,223,418 (GRCm39) D76N unknown Het
Afg1l A G 10: 42,330,376 (GRCm39) V97A probably damaging Het
Akap6 A C 12: 53,187,436 (GRCm39) S1617R probably damaging Het
Aldh1a3 T C 7: 66,057,579 (GRCm39) N285D probably damaging Het
Arhgap20 A T 9: 51,757,490 (GRCm39) N494I possibly damaging Het
Atg9a G T 1: 75,159,748 (GRCm39) Q712K possibly damaging Het
Cdcp2 G A 4: 106,964,386 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,363 (GRCm39) I84N possibly damaging Het
Clcn3 T C 8: 61,376,187 (GRCm39) I596V probably damaging Het
Ctxn1 A G 8: 4,308,514 (GRCm39) L39P probably damaging Het
Efhb A T 17: 53,733,287 (GRCm39) V528D probably damaging Het
Fmod T G 1: 133,968,001 (GRCm39) S14A probably benign Het
Foxh1 A G 15: 76,553,120 (GRCm39) F198S probably damaging Het
Gcc2 A G 10: 58,105,103 (GRCm39) E77G probably damaging Het
Gm5420 G T 10: 21,566,933 (GRCm39) noncoding transcript Het
Gm6434 T G 7: 25,581,655 (GRCm39) noncoding transcript Het
Il1b A T 2: 129,211,662 (GRCm39) N19K possibly damaging Het
Lama2 T A 10: 26,860,322 (GRCm39) D3055V probably damaging Het
Lcn3 G A 2: 25,655,636 (GRCm39) V18I probably benign Het
Lpcat2 A G 8: 93,644,809 (GRCm39) S533G probably benign Het
Map4k2 G A 19: 6,401,348 (GRCm39) R606Q probably benign Het
Mtnr1b T C 9: 15,774,589 (GRCm39) T157A probably benign Het
Myo15a G A 11: 60,397,689 (GRCm39) E2705K probably damaging Het
Ncf2 A G 1: 152,711,871 (GRCm39) probably benign Het
Nfkbil1 G A 17: 35,439,934 (GRCm39) T193M probably benign Het
Nmi T G 2: 51,850,641 (GRCm39) K9T possibly damaging Het
Or2d4 T C 7: 106,543,320 (GRCm39) D296G possibly damaging Het
Or5p69 T C 7: 107,966,742 (GRCm39) F15S probably damaging Het
Or6c6c A G 10: 129,541,104 (GRCm39) D119G probably damaging Het
Osbpl7 T A 11: 96,951,334 (GRCm39) C502S probably benign Het
Pex5 A T 6: 124,382,240 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,356,452 (GRCm39) probably null Het
Prmt3 C T 7: 49,478,711 (GRCm39) T424M possibly damaging Het
Rapgef4 G A 2: 72,029,140 (GRCm39) G404D probably damaging Het
Rbm5 C T 9: 107,633,045 (GRCm39) probably benign Het
Rsl1 A G 13: 67,324,612 (GRCm39) E46G probably damaging Het
Sall1 A G 8: 89,758,097 (GRCm39) F669S probably damaging Het
Sipa1l2 A G 8: 126,218,558 (GRCm39) S260P probably benign Het
Slc26a8 A G 17: 28,861,225 (GRCm39) Y820H probably damaging Het
Tas2r115 A G 6: 132,714,430 (GRCm39) F174L probably benign Het
Terb1 A C 8: 105,221,746 (GRCm39) C185G probably damaging Het
Vmn2r108 A T 17: 20,683,398 (GRCm39) V602E probably damaging Het
Vmn2r58 T A 7: 41,514,703 (GRCm39) I89F probably damaging Het
Vps13b G T 15: 35,423,391 (GRCm39) R237L probably damaging Het
Zfp865 T C 7: 5,034,372 (GRCm39) S786P probably benign Het
Other mutations in Rfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Rfc2 APN 5 134,618,243 (GRCm39) missense probably damaging 1.00
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 2014-05-07