Incidental Mutation 'R5729:Rfc1'
ID 452648
Institutional Source Beutler Lab
Gene Symbol Rfc1
Ensembl Gene ENSMUSG00000029191
Gene Name replication factor C (activator 1) 1
Synonyms Recc1, RFC140, 140kDa, Alp145
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65419193-65493013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65434795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 657 (V657E)
Ref Sequence ENSEMBL: ENSMUSP00000144980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172732] [ENSMUST00000203471] [ENSMUST00000203581] [ENSMUST00000204965]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000172660
AA Change: V656E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133457
Gene: ENSMUSG00000029191
AA Change: V656E

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 342 360 N/A INTRINSIC
BRCT 401 479 7.39e-17 SMART
low complexity region 484 502 N/A INTRINSIC
AAA 626 761 9.65e-10 SMART
Pfam:RFC1 898 1051 5.2e-62 PFAM
low complexity region 1103 1130 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172732
AA Change: V656E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: V656E

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 342 360 N/A INTRINSIC
BRCT 401 479 7.39e-17 SMART
low complexity region 484 502 N/A INTRINSIC
AAA 627 762 9.65e-10 SMART
Pfam:RFC1 899 1052 5.2e-62 PFAM
low complexity region 1104 1132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203471
AA Change: V657E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: V657E

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 342 360 N/A INTRINSIC
BRCT 401 479 7.39e-17 SMART
low complexity region 484 502 N/A INTRINSIC
AAA 627 762 9.65e-10 SMART
Pfam:RFC1 899 1052 2.5e-61 PFAM
low complexity region 1104 1132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203581
AA Change: V670E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: V670E

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 322 339 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
BRCT 415 493 7.39e-17 SMART
low complexity region 498 516 N/A INTRINSIC
AAA 640 775 9.65e-10 SMART
Pfam:RFC1 912 1065 2.6e-61 PFAM
low complexity region 1117 1145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204965
AA Change: V657E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: V657E

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 342 360 N/A INTRINSIC
BRCT 401 479 7.39e-17 SMART
low complexity region 484 502 N/A INTRINSIC
AAA 627 762 9.65e-10 SMART
Pfam:RFC1 899 1052 2.5e-61 PFAM
low complexity region 1104 1131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205063
Meta Mutation Damage Score 0.9159 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging Het
Other mutations in Rfc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Rfc1 APN 5 65,453,352 (GRCm39) missense probably benign 0.00
IGL00909:Rfc1 APN 5 65,437,042 (GRCm39) missense probably benign 0.00
IGL01791:Rfc1 APN 5 65,420,488 (GRCm39) missense probably benign 0.00
IGL01884:Rfc1 APN 5 65,431,803 (GRCm39) missense possibly damaging 0.94
IGL02737:Rfc1 APN 5 65,468,506 (GRCm39) missense possibly damaging 0.82
Disturbing UTSW 5 65,423,505 (GRCm39) missense probably damaging 1.00
P0038:Rfc1 UTSW 5 65,445,304 (GRCm39) missense probably damaging 1.00
R0317:Rfc1 UTSW 5 65,453,395 (GRCm39) splice site probably null
R0452:Rfc1 UTSW 5 65,421,640 (GRCm39) missense probably benign 0.01
R0699:Rfc1 UTSW 5 65,476,742 (GRCm39) splice site probably null
R0945:Rfc1 UTSW 5 65,436,052 (GRCm39) critical splice donor site probably null
R1192:Rfc1 UTSW 5 65,451,254 (GRCm39) missense probably benign 0.03
R1341:Rfc1 UTSW 5 65,448,537 (GRCm39) missense probably damaging 1.00
R1425:Rfc1 UTSW 5 65,476,861 (GRCm39) missense probably damaging 1.00
R1551:Rfc1 UTSW 5 65,434,706 (GRCm39) missense probably damaging 0.99
R1800:Rfc1 UTSW 5 65,421,722 (GRCm39) missense probably damaging 1.00
R1969:Rfc1 UTSW 5 65,476,867 (GRCm39) missense probably damaging 1.00
R2006:Rfc1 UTSW 5 65,468,397 (GRCm39) nonsense probably null
R2026:Rfc1 UTSW 5 65,445,372 (GRCm39) missense probably damaging 1.00
R2073:Rfc1 UTSW 5 65,459,282 (GRCm39) missense probably damaging 0.98
R2137:Rfc1 UTSW 5 65,468,382 (GRCm39) critical splice donor site probably null
R2330:Rfc1 UTSW 5 65,470,312 (GRCm39) missense possibly damaging 0.94
R3774:Rfc1 UTSW 5 65,421,749 (GRCm39) missense probably damaging 1.00
R3787:Rfc1 UTSW 5 65,453,357 (GRCm39) missense probably benign 0.00
R4920:Rfc1 UTSW 5 65,445,271 (GRCm39) missense probably damaging 1.00
R5055:Rfc1 UTSW 5 65,423,505 (GRCm39) missense probably damaging 1.00
R5308:Rfc1 UTSW 5 65,436,804 (GRCm39) missense probably damaging 0.99
R5723:Rfc1 UTSW 5 65,434,769 (GRCm39) missense probably null 0.78
R5844:Rfc1 UTSW 5 65,451,130 (GRCm39) missense probably benign 0.19
R6045:Rfc1 UTSW 5 65,436,892 (GRCm39) missense probably damaging 1.00
R6484:Rfc1 UTSW 5 65,451,020 (GRCm39) missense probably benign 0.01
R6495:Rfc1 UTSW 5 65,431,158 (GRCm39) splice site probably null
R6531:Rfc1 UTSW 5 65,470,322 (GRCm39) missense possibly damaging 0.92
R6717:Rfc1 UTSW 5 65,470,304 (GRCm39) missense probably damaging 0.97
R6717:Rfc1 UTSW 5 65,459,347 (GRCm39) nonsense probably null
R6845:Rfc1 UTSW 5 65,468,459 (GRCm39) missense possibly damaging 0.53
R6880:Rfc1 UTSW 5 65,434,729 (GRCm39) missense probably benign 0.14
R7329:Rfc1 UTSW 5 65,420,478 (GRCm39) missense unknown
R7331:Rfc1 UTSW 5 65,468,387 (GRCm39) missense probably damaging 1.00
R7466:Rfc1 UTSW 5 65,432,769 (GRCm39) missense probably damaging 1.00
R7497:Rfc1 UTSW 5 65,436,841 (GRCm39) missense probably damaging 1.00
R7588:Rfc1 UTSW 5 65,429,850 (GRCm39) missense probably damaging 1.00
R8020:Rfc1 UTSW 5 65,429,521 (GRCm39) missense probably damaging 1.00
R8056:Rfc1 UTSW 5 65,451,436 (GRCm39) intron probably benign
R8282:Rfc1 UTSW 5 65,426,289 (GRCm39) critical splice donor site probably null
R8316:Rfc1 UTSW 5 65,436,077 (GRCm39) missense probably benign 0.05
R8320:Rfc1 UTSW 5 65,460,379 (GRCm39) nonsense probably null
R8865:Rfc1 UTSW 5 65,436,135 (GRCm39) missense possibly damaging 0.89
R8968:Rfc1 UTSW 5 65,432,778 (GRCm39) missense probably benign 0.03
R8997:Rfc1 UTSW 5 65,433,064 (GRCm39) missense probably damaging 1.00
R9454:Rfc1 UTSW 5 65,431,774 (GRCm39) missense
R9476:Rfc1 UTSW 5 65,437,142 (GRCm39) missense probably damaging 0.99
R9631:Rfc1 UTSW 5 65,429,851 (GRCm39) missense probably damaging 1.00
R9758:Rfc1 UTSW 5 65,459,391 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGGCCTTTCCTATCTTGATGC -3'
(R):5'- AGAATCTCTAATGCTGTGGGG -3'

Sequencing Primer
(F):5'- CCTATCTTGATGCCTCAGGATAC -3'
(R):5'- AATCTCTAATGCTGTGGGGAATTAG -3'
Posted On 2017-01-03