Incidental Mutation 'R2006:Rfc1'
ID 225540
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 040015-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2006 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65419193-65493013 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 65468397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 105 (Y105*)
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 null
Transcript: ENSMUST00000172732
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: Y105*

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 null
Transcript: ENSMUST00000172780
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000133738
Gene: ENSMUSG00000029191
AA Change: Y105*

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 noncoding transcript
Transcript: ENSMUST00000197871
Predicted Effect probably null
Transcript: ENSMUST00000203471
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: Y105*

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 null
Transcript: ENSMUST00000203581
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: Y105*

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 noncoding transcript
Transcript: ENSMUST00000203644
Predicted Effect probably null
Transcript: ENSMUST00000204965
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: Y105*

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,204,275 (GRCm39) F333L probably benign Het
Abcc2 T A 19: 43,793,500 (GRCm39) F384Y probably damaging Het
Acr C T 15: 89,458,404 (GRCm39) P362S probably benign Het
Acss3 T C 10: 106,798,871 (GRCm39) D484G possibly damaging Het
Actrt1 A G X: 45,418,593 (GRCm39) T203A probably benign Het
Agtpbp1 A T 13: 59,648,135 (GRCm39) C562S probably benign Het
Ahnak A G 19: 8,984,439 (GRCm39) K1908E probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Apaf1 A T 10: 90,897,634 (GRCm39) I283N probably damaging Het
Bbx G A 16: 50,044,758 (GRCm39) T493M possibly damaging Het
Best2 C T 8: 85,739,818 (GRCm39) probably null Het
C4bp C A 1: 130,575,769 (GRCm39) E75* probably null Het
Calr3 A T 8: 73,188,695 (GRCm39) V144D probably damaging Het
Capn1 C T 19: 6,041,613 (GRCm39) G632D probably damaging Het
Catsper2 C A 2: 121,236,838 (GRCm39) E270* probably null Het
Ccdc110 A T 8: 46,396,349 (GRCm39) I747F probably damaging Het
Ccdc15 T A 9: 37,226,768 (GRCm39) D389V possibly damaging Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Crb2 A T 2: 37,673,446 (GRCm39) D114V probably damaging Het
Crebbp TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 16: 3,902,617 (GRCm39) probably benign Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Dab1 T C 4: 104,462,522 (GRCm39) I32T probably damaging Het
Daw1 T C 1: 83,169,066 (GRCm39) V181A probably damaging Het
Dlg2 G A 7: 91,614,825 (GRCm39) E255K possibly damaging Het
Dnah10 T A 5: 124,906,651 (GRCm39) D4170E possibly damaging Het
Dnah12 A G 14: 26,536,416 (GRCm39) T2111A possibly damaging Het
Dock10 T C 1: 80,527,506 (GRCm39) Y1081C possibly damaging Het
Dscam T C 16: 96,621,112 (GRCm39) Y532C probably damaging Het
Fam83c T C 2: 155,672,223 (GRCm39) D404G probably benign Het
Fam83g A G 11: 61,593,801 (GRCm39) N445S possibly damaging Het
Ghr C T 15: 3,357,464 (GRCm39) C268Y probably damaging Het
Gm8444 T C 15: 81,727,775 (GRCm39) probably benign Het
Gp6 T A 7: 4,387,988 (GRCm39) K160N probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Gtf3c2 C A 5: 31,325,440 (GRCm39) G450C probably damaging Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Il31ra T G 13: 112,666,890 (GRCm39) Y396S probably damaging Het
Insig1 A G 5: 28,276,464 (GRCm39) N10S probably benign Het
Kcnh2 C A 5: 24,531,568 (GRCm39) G448C probably damaging Het
L1td1 C T 4: 98,621,726 (GRCm39) S96L possibly damaging Het
Mapre3 A T 5: 31,019,168 (GRCm39) N4I probably damaging Het
Mblac2 T A 13: 81,859,860 (GRCm39) D70E probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mpg A G 11: 32,181,840 (GRCm39) I283V probably benign Het
Mrtfb G T 16: 13,199,440 (GRCm39) E98* probably null Het
Mybpc1 C A 10: 88,381,921 (GRCm39) A576S probably damaging Het
Myo1h T G 5: 114,499,140 (GRCm39) V129G probably damaging Het
Nars1 A T 18: 64,638,099 (GRCm39) V285E probably damaging Het
Nbas T A 12: 13,464,742 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nyap1 T C 5: 137,733,953 (GRCm39) H360R possibly damaging Het
Nyx A G X: 13,352,974 (GRCm39) E276G probably damaging Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or1e1 G T 11: 73,245,518 (GRCm39) C313F probably benign Het
Or2l13b A G 16: 19,349,455 (GRCm39) Y72H probably benign Het
Or2w6 T C 13: 21,842,642 (GRCm39) T284A possibly damaging Het
Or4c1 A G 2: 89,133,160 (GRCm39) Y259H possibly damaging Het
Or4c118 A T 2: 88,975,241 (GRCm39) V42E probably benign Het
Or5v1b C T 17: 37,841,597 (GRCm39) S243F probably damaging Het
Or7e174 A T 9: 20,012,165 (GRCm39) M37L probably benign Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or8g23 T A 9: 38,971,729 (GRCm39) T78S probably damaging Het
Paf1 C A 7: 28,095,193 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,280 (GRCm39) D1050G probably benign Het
Pgap1 A G 1: 54,590,220 (GRCm39) S73P possibly damaging Het
Phtf1 G A 3: 103,911,799 (GRCm39) probably null Het
Pik3c2b G T 1: 132,994,282 (GRCm39) R82L probably damaging Het
Pik3ca T C 3: 32,504,206 (GRCm39) L632P probably damaging Het
Plau G T 14: 20,888,760 (GRCm39) probably null Het
Pld4 A T 12: 112,734,923 (GRCm39) Q460L possibly damaging Het
Prdm2 T A 4: 142,858,447 (GRCm39) Q1614H possibly damaging Het
Ptprq C T 10: 107,502,407 (GRCm39) G837D probably damaging Het
Rad9b A G 5: 122,477,842 (GRCm39) V178A possibly damaging Het
Sardh G A 2: 27,118,351 (GRCm39) R460C probably damaging Het
Scn5a C A 9: 119,365,546 (GRCm39) R367L probably damaging Het
Sdcbp A T 4: 6,386,536 (GRCm39) I137L probably benign Het
Shmt2 A G 10: 127,355,029 (GRCm39) V273A probably benign Het
Slc5a9 G T 4: 111,737,423 (GRCm39) P612H probably benign Het
Slitrk4 TTGT TT X: 63,314,294 (GRCm39) probably null Het
Slitrk4 TG T X: 63,314,295 (GRCm39) probably null Het
Spata1 A T 3: 146,199,438 (GRCm39) S9T probably benign Het
Syn3 T C 10: 85,909,097 (GRCm39) T328A probably benign Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Ticrr T C 7: 79,343,821 (GRCm39) S1229P possibly damaging Het
Tlr6 T C 5: 65,110,748 (GRCm39) S720G probably damaging Het
Tmem156 T A 5: 65,237,294 (GRCm39) D87V probably damaging Het
Togaram1 T A 12: 65,065,914 (GRCm39) D1639E probably damaging Het
Ucn2 A G 9: 108,815,430 (GRCm39) K64R probably benign Het
Vmn2r57 T A 7: 41,098,001 (GRCm39) Y22F probably benign Het
Vwa1 T C 4: 155,855,307 (GRCm39) T269A probably benign Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wdr20 T C 12: 110,760,002 (GRCm39) V296A probably damaging Het
Xxylt1 A T 16: 30,869,586 (GRCm39) H171Q probably damaging Het
Yju2 C T 17: 56,271,543 (GRCm39) Q155* probably null Het
Zfp275 A G X: 72,396,841 (GRCm39) T118A 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
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
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'- TCAGTCCTCAGCTCTGAAAAG -3'
(R):5'- GGGGATTGCTTTGAATGACTAC -3'

Sequencing Primer
(F):5'- TCCCCCAAGGATAGGACTATAG -3'
(R):5'- CTTGTAGACTCAGAGTCAGAG -3'
Posted On 2014-08-25