Incidental Mutation 'R8865:Rfc1'
ID 675857
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 068681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8865 (G1)
Quality Score 148.008
Status Validated
Chromosome 5
Chromosomal Location 65419193-65493013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65436135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 636 (D636E)
Ref Sequence ENSEMBL: ENSMUSP00000145385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172732] [ENSMUST00000203471] [ENSMUST00000203581] [ENSMUST00000204965]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000172732
AA Change: D622E

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: D622E

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: D623E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: D623E

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 possibly damaging
Transcript: ENSMUST00000203581
AA Change: D636E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: D636E

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: D623E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: D623E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (72/72)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,672,571 (GRCm39) Y606* probably null Het
Adgrb1 A G 15: 74,415,507 (GRCm39) I696V possibly damaging Het
Ass1 A G 2: 31,410,407 (GRCm39) Q406R probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccdc148 T C 2: 58,719,832 (GRCm39) K409R possibly damaging Het
Ccnl1 A T 3: 65,854,269 (GRCm39) S451T probably benign Het
Cdc123 T C 2: 5,800,235 (GRCm39) probably benign Het
Cep192 T C 18: 67,967,703 (GRCm39) V729A probably benign Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Chl1 A G 6: 103,685,822 (GRCm39) K898E probably damaging Het
Chrng T C 1: 87,135,219 (GRCm39) V154A probably damaging Het
Cog1 T G 11: 113,549,324 (GRCm39) M799R probably benign Het
Col4a3 G A 1: 82,647,483 (GRCm39) probably null Het
Coro6 C A 11: 77,359,917 (GRCm39) T366K probably damaging Het
Cwh43 G A 5: 73,598,702 (GRCm39) M640I probably benign Het
Cyp2c55 A G 19: 39,019,878 (GRCm39) E272G probably benign Het
Cyp4f39 A G 17: 32,702,271 (GRCm39) Y256C probably damaging Het
Dbx2 G A 15: 95,530,281 (GRCm39) R229* probably null Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
En1 G T 1: 120,530,729 (GRCm39) probably benign Het
F3 T A 3: 121,523,060 (GRCm39) V90E probably damaging Het
Fam171a1 A G 2: 3,226,940 (GRCm39) K691R probably damaging Het
Foxp2 C T 6: 15,415,093 (GRCm39) A609V unknown Het
Hemgn A T 4: 46,396,682 (GRCm39) S185T possibly damaging Het
Hk1 C T 10: 62,151,294 (GRCm39) D33N probably benign Het
Igfbp1 T A 11: 7,151,929 (GRCm39) V244D probably damaging Het
Insr A T 8: 3,211,358 (GRCm39) D1160E probably damaging Het
Irs1 A T 1: 82,265,830 (GRCm39) Y795* probably null Het
Krtap28-10 T C 1: 83,019,808 (GRCm39) K111E unknown Het
Lbx1 T G 19: 45,223,605 (GRCm39) D21A probably benign Het
Map6 G T 7: 98,918,192 (GRCm39) A322S probably benign Het
Mat1a T C 14: 40,843,788 (GRCm39) Y336H probably damaging Het
Mcf2l A G 8: 12,930,003 (GRCm39) I8V probably benign Het
Med12l T C 3: 58,979,303 (GRCm39) V276A probably benign Het
Mettl17 A G 14: 52,122,308 (GRCm39) probably benign Het
Mllt1 T C 17: 57,207,295 (GRCm39) D183G possibly damaging Het
Msmb T A 14: 31,872,217 (GRCm39) C69* probably null Het
Mterf1a A G 5: 3,941,425 (GRCm39) S148P probably damaging Het
Mybl2 A G 2: 162,922,653 (GRCm39) I583V probably benign Het
Nbr1 T A 11: 101,455,520 (GRCm39) D91E probably benign Het
Notch3 A G 17: 32,341,090 (GRCm39) Y2221H probably benign Het
Npat C A 9: 53,481,940 (GRCm39) T1216N probably benign Het
Or14j6 T C 17: 38,215,115 (GRCm39) L226P probably damaging Het
Or2j3 T A 17: 38,615,872 (GRCm39) H160L probably damaging Het
Or8k35 C A 2: 86,424,744 (GRCm39) V143F possibly damaging Het
Pawr T A 10: 108,218,603 (GRCm39) Y170N probably damaging Het
Pde12 T C 14: 26,390,280 (GRCm39) D143G possibly damaging Het
Phactr2 A G 10: 13,129,476 (GRCm39) I264T probably benign Het
Pip5k1b A G 19: 24,374,422 (GRCm39) L53P probably damaging Het
Pknox1 T C 17: 31,818,520 (GRCm39) I251T probably benign Het
Plcxd1 A T 5: 110,249,841 (GRCm39) probably benign Het
Polr3c C T 3: 96,622,517 (GRCm39) probably benign Het
Pramel4 G C 4: 143,795,052 (GRCm39) G483R probably damaging Het
Prdm10 T C 9: 31,238,693 (GRCm39) L195P probably damaging Het
Prss16 A T 13: 22,187,175 (GRCm39) L465Q possibly damaging Het
Psg25 G T 7: 18,263,519 (GRCm39) H101Q possibly damaging Het
Pstpip2 A G 18: 77,934,108 (GRCm39) D55G possibly damaging Het
Scarf2 G T 16: 17,620,974 (GRCm39) C214F probably damaging Het
Sirt4 T C 5: 115,620,704 (GRCm39) E156G probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Stx17 T A 4: 48,183,444 (GRCm39) H267Q unknown Het
Tekt3 T C 11: 62,961,058 (GRCm39) C76R probably benign Het
Tln1 A T 4: 43,538,281 (GRCm39) V1807E possibly damaging Het
Tnfrsf21 A G 17: 43,396,372 (GRCm39) D552G probably damaging Het
Ttn C A 2: 76,560,664 (GRCm39) V29246L possibly damaging Het
Usp43 C A 11: 67,789,788 (GRCm39) C252F probably damaging Het
Vmn2r16 T C 5: 109,487,910 (GRCm39) I261T probably benign Het
Vwa5b1 T C 4: 138,308,530 (GRCm39) E769G probably benign Het
Xrn1 T A 9: 95,873,246 (GRCm39) F670Y probably benign Het
Ypel1 T C 16: 16,915,269 (GRCm39) N113S probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zdhhc14 A T 17: 5,775,570 (GRCm39) Y274F possibly damaging Het
Zeb2 T A 2: 44,886,139 (GRCm39) M973L probably benign Het
Zfp638 T C 6: 83,954,035 (GRCm39) V1380A possibly 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
R5729:Rfc1 UTSW 5 65,434,795 (GRCm39) missense probably damaging 1.00
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
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'- ATTCAATAACAGGTTTAAGGTGGGG -3'
(R):5'- AAGCTGAGGTAAGCACTGGC -3'

Sequencing Primer
(F):5'- AGGCTGGCCTTGAATTAACC -3'
(R):5'- AGTGACCTACAGCCTCATTACATTG -3'
Posted On 2021-07-15