Incidental Mutation 'IGL01135:Rfc4'
ID 52962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc4
Ensembl Gene ENSMUSG00000022881
Gene Name replication factor C (activator 1) 4
Synonyms A1, RFC37
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL01135
Quality Score
Status
Chromosome 16
Chromosomal Location 22932698-22946480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22934526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 165 (R165C)
Ref Sequence ENSEMBL: ENSMUSP00000115479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000023599] [ENSMUST00000077605] [ENSMUST00000115337] [ENSMUST00000115338] [ENSMUST00000133847] [ENSMUST00000147117] [ENSMUST00000131871] [ENSMUST00000123413] [ENSMUST00000115341] [ENSMUST00000187168] [ENSMUST00000232287] [ENSMUST00000168891]
AlphaFold Q99J62
Predicted Effect probably damaging
Transcript: ENSMUST00000023598
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: R165C

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 267 356 2.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023599
SMART Domains Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 368 5.21e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077605
SMART Domains Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083274
Predicted Effect probably benign
Transcript: ENSMUST00000115337
SMART Domains Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881

DomainStartEndE-ValueType
SCOP:d1iqpa2 29 67 2e-5 SMART
PDB:1SXJ|D 39 76 4e-8 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000115338
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: R165C

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 269 344 3.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150117
Predicted Effect probably damaging
Transcript: ENSMUST00000133847
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: R165C

DomainStartEndE-ValueType
Pfam:Rad17 32 97 3.7e-9 PFAM
Pfam:AAA 74 98 2.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147117
SMART Domains Protein: ENSMUSP00000121745
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
PDB:3EIQ|D 4 69 4e-33 PDB
Blast:DEXDc 16 72 3e-25 BLAST
SCOP:d1qdea_ 24 70 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131871
SMART Domains Protein: ENSMUSP00000118141
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
PDB:3EIQ|D 4 70 2e-33 PDB
Blast:DEXDc 17 73 3e-25 BLAST
SCOP:d1qdea_ 25 71 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123413
SMART Domains Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115341
SMART Domains Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 53 251 4.62e-58 SMART
HELICc 288 369 5.21e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157310
Predicted Effect probably benign
Transcript: ENSMUST00000187168
SMART Domains Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232287
Predicted Effect probably benign
Transcript: ENSMUST00000168891
SMART Domains Protein: ENSMUSP00000127030
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
DEXDc 1 155 1.92e-14 SMART
HELICc 192 273 5.21e-34 SMART
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 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Rfc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rfc4 APN 16 22,934,573 (GRCm39) missense probably damaging 1.00
IGL02238:Rfc4 APN 16 22,933,219 (GRCm39) missense probably damaging 0.99
IGL02693:Rfc4 APN 16 22,932,960 (GRCm39) missense probably damaging 1.00
rifraf UTSW 16 22,932,823 (GRCm39) makesense probably null
R0094:Rfc4 UTSW 16 22,934,178 (GRCm39) missense probably benign 0.03
R0230:Rfc4 UTSW 16 22,932,849 (GRCm39) nonsense probably null
R1493:Rfc4 UTSW 16 22,936,758 (GRCm39) missense probably damaging 1.00
R1699:Rfc4 UTSW 16 22,932,983 (GRCm39) missense probably benign 0.00
R2119:Rfc4 UTSW 16 22,943,314 (GRCm39) missense probably damaging 1.00
R2194:Rfc4 UTSW 16 22,932,902 (GRCm39) unclassified probably benign
R4575:Rfc4 UTSW 16 22,933,179 (GRCm39) unclassified probably benign
R5097:Rfc4 UTSW 16 22,933,046 (GRCm39) missense possibly damaging 0.82
R5495:Rfc4 UTSW 16 22,941,004 (GRCm39) intron probably benign
R6118:Rfc4 UTSW 16 22,939,693 (GRCm39) missense probably damaging 1.00
R6160:Rfc4 UTSW 16 22,933,433 (GRCm39) missense probably damaging 1.00
R6232:Rfc4 UTSW 16 22,932,840 (GRCm39) unclassified probably benign
R6281:Rfc4 UTSW 16 22,936,816 (GRCm39) splice site probably null
R6310:Rfc4 UTSW 16 22,933,459 (GRCm39) missense probably benign 0.37
R6409:Rfc4 UTSW 16 22,932,823 (GRCm39) makesense probably null
R6411:Rfc4 UTSW 16 22,932,823 (GRCm39) makesense probably null
R7161:Rfc4 UTSW 16 22,934,183 (GRCm39) missense probably benign 0.03
R7202:Rfc4 UTSW 16 22,946,359 (GRCm39) start gained probably benign
R7693:Rfc4 UTSW 16 22,946,163 (GRCm39) missense probably damaging 1.00
R7951:Rfc4 UTSW 16 22,934,135 (GRCm39) missense probably benign 0.34
RF010:Rfc4 UTSW 16 22,946,232 (GRCm39) missense probably benign
Posted On 2013-06-21