Incidental Mutation 'IGL02878:Rfc3'
ID 362723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc3
Ensembl Gene ENSMUSG00000033970
Gene Name replication factor C (activator 1) 3
Synonyms 38kDa, 38kDa, 2810416I22Rik, Recc3
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL02878
Quality Score
Status
Chromosome 5
Chromosomal Location 151566282-151574673 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 151566379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 357 (*357R)
Ref Sequence ENSEMBL: ENSMUSP00000039621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038131]
AlphaFold Q8R323
Predicted Effect probably null
Transcript: ENSMUST00000038131
AA Change: *357R
SMART Domains Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: *357R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,029,155 (GRCm39) D801G probably benign Het
Abce1 T C 8: 80,429,636 (GRCm39) H95R possibly damaging Het
Axl T A 7: 25,458,302 (GRCm39) M818L probably damaging Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Cdc40 T C 10: 40,719,118 (GRCm39) D337G probably damaging Het
Cep70 T C 9: 99,163,160 (GRCm39) probably benign Het
Cpeb1 C T 7: 81,007,074 (GRCm39) V318I probably damaging Het
Crlf1 G A 8: 70,956,290 (GRCm39) probably null Het
Dnah6 A T 6: 73,009,570 (GRCm39) D3740E probably benign Het
Dnajc28 C T 16: 91,413,329 (GRCm39) R329Q possibly damaging Het
Ehmt2 T C 17: 35,129,743 (GRCm39) Y946H probably damaging Het
Gapdhs C T 7: 30,429,304 (GRCm39) probably benign Het
Gpr61 A T 3: 108,057,344 (GRCm39) L439H probably damaging Het
Klf9 G T 19: 23,119,633 (GRCm39) probably benign Het
Krt73 T C 15: 101,707,261 (GRCm39) Y309C probably damaging Het
Lrrk1 T C 7: 65,912,311 (GRCm39) M1750V probably benign Het
Mc1r G T 8: 124,134,369 (GRCm39) G41C probably damaging Het
Mecr C A 4: 131,582,019 (GRCm39) A133E probably damaging Het
Mon2 T C 10: 122,842,896 (GRCm39) N1511S probably benign Het
Mrpl13 A T 15: 55,403,595 (GRCm39) L106* probably null Het
Mrpl48 A T 7: 100,223,720 (GRCm39) V1E possibly damaging Het
Myo1c T A 11: 75,559,859 (GRCm39) W683R possibly damaging Het
Myo9a G A 9: 59,815,583 (GRCm39) probably null Het
Myrfl A T 10: 116,613,310 (GRCm39) I831K possibly damaging Het
Neurl4 T A 11: 69,797,657 (GRCm39) Y671N probably damaging Het
Opalin A T 19: 41,056,108 (GRCm39) D62E probably benign Het
Or1j18 A T 2: 36,624,489 (GRCm39) D52V probably damaging Het
Or7a41 G T 10: 78,871,392 (GRCm39) C254F probably benign Het
Otoa T C 7: 120,743,076 (GRCm39) F768L probably damaging Het
Pde4b T A 4: 102,458,836 (GRCm39) N497K probably damaging Het
Plcl2 T A 17: 50,914,383 (GRCm39) L464Q probably damaging Het
Ryr2 A G 13: 11,933,205 (GRCm39) S89P probably benign Het
Sema3b C T 9: 107,478,192 (GRCm39) V398I probably damaging Het
Setd3 A G 12: 108,074,814 (GRCm39) probably null Het
Sgsh T C 11: 119,237,384 (GRCm39) D410G probably damaging Het
Slc9a3 G T 13: 74,313,476 (GRCm39) E730* probably null Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Tmem132c T C 5: 127,640,154 (GRCm39) L775P probably damaging Het
Togaram1 T C 12: 65,039,400 (GRCm39) V1158A possibly damaging Het
Ttn A G 2: 76,607,222 (GRCm39) F17934L probably damaging Het
Ube3b T C 5: 114,542,778 (GRCm39) probably null Het
Ydjc A G 16: 16,965,469 (GRCm39) E111G possibly damaging Het
Zp3r T A 1: 130,510,588 (GRCm39) H443L probably benign Het
Other mutations in Rfc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Rfc3 APN 5 151,566,401 (GRCm39) missense probably benign 0.00
IGL02429:Rfc3 APN 5 151,574,596 (GRCm39) missense probably benign 0.01
IGL02588:Rfc3 APN 5 151,566,381 (GRCm39) missense possibly damaging 0.69
IGL03109:Rfc3 APN 5 151,566,559 (GRCm39) missense probably benign 0.10
R0129:Rfc3 UTSW 5 151,574,616 (GRCm39) start codon destroyed probably null 1.00
R0456:Rfc3 UTSW 5 151,570,988 (GRCm39) missense possibly damaging 0.61
R2015:Rfc3 UTSW 5 151,571,003 (GRCm39) critical splice acceptor site probably null
R2096:Rfc3 UTSW 5 151,568,383 (GRCm39) missense probably benign 0.03
R2306:Rfc3 UTSW 5 151,567,243 (GRCm39) missense probably damaging 1.00
R4223:Rfc3 UTSW 5 151,574,637 (GRCm39) start gained probably benign
R4739:Rfc3 UTSW 5 151,568,241 (GRCm39) splice site probably benign
R4906:Rfc3 UTSW 5 151,570,960 (GRCm39) missense probably damaging 0.98
R4945:Rfc3 UTSW 5 151,566,450 (GRCm39) missense probably damaging 1.00
R5643:Rfc3 UTSW 5 151,573,444 (GRCm39) missense probably benign 0.05
R5644:Rfc3 UTSW 5 151,573,444 (GRCm39) missense probably benign 0.05
R6011:Rfc3 UTSW 5 151,567,184 (GRCm39) missense probably damaging 1.00
R6181:Rfc3 UTSW 5 151,570,985 (GRCm39) missense probably damaging 1.00
R6885:Rfc3 UTSW 5 151,571,749 (GRCm39) missense probably benign 0.00
R7509:Rfc3 UTSW 5 151,570,975 (GRCm39) missense probably damaging 1.00
R7587:Rfc3 UTSW 5 151,574,616 (GRCm39) start codon destroyed probably null 1.00
R8346:Rfc3 UTSW 5 151,569,100 (GRCm39) missense probably damaging 1.00
R8414:Rfc3 UTSW 5 151,568,381 (GRCm39) missense possibly damaging 0.94
R9140:Rfc3 UTSW 5 151,568,141 (GRCm39) missense probably benign 0.17
R9492:Rfc3 UTSW 5 151,566,411 (GRCm39) missense probably damaging 0.99
Z1088:Rfc3 UTSW 5 151,568,327 (GRCm39) missense probably benign
Posted On 2015-12-18