Incidental Mutation 'IGL01484:Rfc3'
ID88856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc3
Ensembl Gene ENSMUSG00000033970
Gene Namereplication factor C (activator 1) 3
Synonyms2810416I22Rik, Recc3, 38kDa, 38kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL01484
Quality Score
Status
Chromosome5
Chromosomal Location151642756-151651242 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 151642936 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 349 (D349E)
Ref Sequence ENSEMBL: ENSMUSP00000039621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038131]
Predicted Effect probably benign
Transcript: ENSMUST00000038131
AA Change: D349E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: D349E

DomainStartEndE-ValueType
AAA 34 190 1.5e-6 SMART
Pfam:Rep_fac_C 216 338 7.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202147
Coding Region Coverage
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 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Rfc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Rfc3 APN 5 151651131 missense probably benign 0.01
IGL02588:Rfc3 APN 5 151642916 missense possibly damaging 0.69
IGL02878:Rfc3 APN 5 151642914 makesense probably null
IGL03109:Rfc3 APN 5 151643094 missense probably benign 0.10
R0129:Rfc3 UTSW 5 151651151 start codon destroyed probably null 1.00
R0456:Rfc3 UTSW 5 151647523 missense possibly damaging 0.61
R2015:Rfc3 UTSW 5 151647538 critical splice acceptor site probably null
R2096:Rfc3 UTSW 5 151644918 missense probably benign 0.03
R2306:Rfc3 UTSW 5 151643778 missense probably damaging 1.00
R4223:Rfc3 UTSW 5 151651172 start gained probably benign
R4739:Rfc3 UTSW 5 151644776 splice site probably benign
R4906:Rfc3 UTSW 5 151647495 missense probably damaging 0.98
R4945:Rfc3 UTSW 5 151642985 missense probably damaging 1.00
R5643:Rfc3 UTSW 5 151649979 missense probably benign 0.05
R5644:Rfc3 UTSW 5 151649979 missense probably benign 0.05
R6011:Rfc3 UTSW 5 151643719 missense probably damaging 1.00
R6181:Rfc3 UTSW 5 151647520 missense probably damaging 1.00
R6885:Rfc3 UTSW 5 151648284 missense probably benign 0.00
R7509:Rfc3 UTSW 5 151647510 missense probably damaging 1.00
R7587:Rfc3 UTSW 5 151651151 start codon destroyed probably null 1.00
R8346:Rfc3 UTSW 5 151645635 missense probably damaging 1.00
R8414:Rfc3 UTSW 5 151644916 missense possibly damaging 0.94
Z1088:Rfc3 UTSW 5 151644862 missense probably benign
Posted On2013-11-18