Incidental Mutation 'R7329:Rfc1'
ID 569102
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 045422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7329 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65419193-65493013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65420478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1122 (R1122S)
Ref Sequence ENSEMBL: ENSMUSP00000145385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000172732] [ENSMUST00000203471] [ENSMUST00000203581] [ENSMUST00000203596] [ENSMUST00000203653] [ENSMUST00000204965]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041892
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890

DomainStartEndE-ValueType
WD40 6 42 4.26e1 SMART
WD40 44 83 2.13e1 SMART
WD40 85 125 2.75e1 SMART
WD40 128 166 2.67e-1 SMART
Blast:WD40 220 258 6e-9 BLAST
WD40 264 302 1.46e-1 SMART
Blast:WD40 308 347 2e-18 BLAST
Pfam:WD40_3 508 564 2.7e-32 PFAM
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1259 1268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172732
AA Change: R1107S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: R1107S

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 unknown
Transcript: ENSMUST00000203471
AA Change: R1109S
SMART Domains Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: R1109S

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 benign
Transcript: ENSMUST00000203554
Predicted Effect unknown
Transcript: ENSMUST00000203581
AA Change: R1122S
SMART Domains Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: R1122S

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 unknown
Transcript: ENSMUST00000203596
AA Change: R193S
SMART Domains Protein: ENSMUSP00000145181
Gene: ENSMUSG00000029191
AA Change: R193S

DomainStartEndE-ValueType
Pfam:RFC1 2 137 1.7e-46 PFAM
low complexity region 189 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203653
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890

DomainStartEndE-ValueType
WD40 6 42 4.26e1 SMART
WD40 44 83 2.13e1 SMART
WD40 85 125 2.75e1 SMART
WD40 128 166 2.67e-1 SMART
Blast:WD40 220 258 6e-9 BLAST
WD40 264 302 1.46e-1 SMART
Blast:WD40 308 347 2e-18 BLAST
Pfam:WD40_3 508 564 2.7e-32 PFAM
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1259 1268 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000204965
AA Change: R1108S
SMART Domains Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: R1108S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actb T C 5: 142,890,146 (GRCm39) N252S probably benign Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ahnak A G 19: 8,979,156 (GRCm39) T147A probably damaging Het
Ankfy1 T C 11: 72,603,034 (GRCm39) V21A probably damaging Het
Arrdc4 T A 7: 68,390,775 (GRCm39) N322Y probably damaging Het
Bfsp2 C A 9: 103,327,121 (GRCm39) E205D probably benign Het
C2cd4b T A 9: 67,667,419 (GRCm39) S138R possibly damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Ckap2l T A 2: 129,127,284 (GRCm39) Q298L possibly damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cntnap2 G A 6: 47,248,205 (GRCm39) V1204M possibly damaging Het
Col4a1 C T 8: 11,276,494 (GRCm39) probably null Het
Ctrc T C 4: 141,571,022 (GRCm39) T73A probably benign Het
Cubn A G 2: 13,473,582 (GRCm39) F454L probably damaging Het
Cuedc1 A T 11: 88,060,692 (GRCm39) S12C unknown Het
Cyb561a3 G T 19: 10,565,268 (GRCm39) G211C probably damaging Het
D5Ertd579e A T 5: 36,773,739 (GRCm39) S219T probably benign Het
Dennd4c T A 4: 86,759,318 (GRCm39) Y1783N probably damaging Het
Dennd4c C T 4: 86,698,111 (GRCm39) P200S possibly damaging Het
Dnah6 G A 6: 73,121,705 (GRCm39) Q1426* probably null Het
Dync2h1 T G 9: 7,011,247 (GRCm39) T3649P probably benign Het
E2f8 T C 7: 48,521,858 (GRCm39) S415G probably damaging Het
Fbxo22 A G 9: 55,122,261 (GRCm39) I147V probably benign Het
Gclc A G 9: 77,683,473 (GRCm39) Y110C probably damaging Het
Gstm5 A G 3: 107,803,647 (GRCm39) T27A possibly damaging Het
Heatr4 A G 12: 84,024,856 (GRCm39) S322P probably benign Het
Htt T A 5: 34,987,099 (GRCm39) I1106N probably benign Het
Hunk T C 16: 90,183,570 (GRCm39) V76A probably benign Het
Igkv12-98 C T 6: 68,548,087 (GRCm39) T72I possibly damaging Het
Igkv9-123 A T 6: 67,931,629 (GRCm39) W16R possibly damaging Het
Ipo7 T C 7: 109,648,224 (GRCm39) L674S possibly damaging Het
Kcnh6 T C 11: 105,908,203 (GRCm39) F273S probably benign Het
Lamb3 C A 1: 193,002,848 (GRCm39) Q98K possibly damaging Het
Lingo4 A T 3: 94,310,162 (GRCm39) T367S probably benign Het
Lypd6b A T 2: 49,832,512 (GRCm39) I26F probably benign Het
Maneal T C 4: 124,750,512 (GRCm39) T415A probably benign Het
Mapk1ip1l A G 14: 47,547,920 (GRCm39) T23A unknown Het
Mrps17 T A 5: 129,793,705 (GRCm39) probably benign Het
Mup13 T G 4: 61,183,688 (GRCm39) D45A probably damaging Het
Mycbpap T A 11: 94,400,073 (GRCm39) D408V probably damaging Het
Myh10 A G 11: 68,701,017 (GRCm39) H1742R probably benign Het
Mylk4 A G 13: 32,900,766 (GRCm39) Y255H probably damaging Het
Nbeal1 A G 1: 60,256,355 (GRCm39) Q200R probably benign Het
Nkain2 TTTACTCGTT TTT 10: 32,765,892 (GRCm39) probably null Het
Olfm4 T C 14: 80,249,369 (GRCm39) V162A possibly damaging Het
Or1j15 A G 2: 36,458,708 (GRCm39) T33A probably benign Het
Or51a8 T C 7: 102,550,039 (GRCm39) L155P probably damaging Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8c11 C A 9: 38,289,456 (GRCm39) T87K probably benign Het
Ovol3 T A 7: 29,934,677 (GRCm39) R43S probably benign Het
Pcbp1 A G 6: 86,502,098 (GRCm39) V267A probably benign Het
Phf20 T A 2: 156,146,552 (GRCm39) V903E probably damaging Het
Pi4k2b T G 5: 52,914,211 (GRCm39) S316A probably benign Het
Pira1 G A 7: 3,742,875 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,617,743 (GRCm39) H947Q probably damaging Het
Ppip5k2 A C 1: 97,678,478 (GRCm39) probably null Het
Prkca T A 11: 107,905,103 (GRCm39) T212S possibly damaging Het
Psg16 A T 7: 16,824,611 (GRCm39) I41F possibly damaging Het
Rae1 T A 2: 172,851,238 (GRCm39) F204I probably benign Het
Rasef T A 4: 73,662,374 (GRCm39) N192I probably damaging Het
Rfx2 A T 17: 57,110,681 (GRCm39) S102T probably benign Het
Sez6l A G 5: 112,588,773 (GRCm39) Y647H probably damaging Het
Siglecf A G 7: 43,001,395 (GRCm39) Y121C probably damaging Het
Slc27a5 T C 7: 12,725,089 (GRCm39) T453A possibly damaging Het
Slc44a2 G A 9: 21,254,048 (GRCm39) R171Q probably damaging Het
Slc4a9 A C 18: 36,673,874 (GRCm39) E889A possibly damaging Het
Snx31 C A 15: 36,555,621 (GRCm39) R13L probably benign Het
Spag6l A T 16: 16,584,883 (GRCm39) Y422N probably benign Het
Spmip5 T C 19: 58,777,654 (GRCm39) E52G probably damaging Het
Sulf2 T C 2: 165,959,008 (GRCm39) T67A probably damaging Het
Syne2 G A 12: 76,013,758 (GRCm39) R2983Q probably benign Het
Tmtc3 A G 10: 100,283,281 (GRCm39) I758T probably benign Het
Top2a T A 11: 98,895,072 (GRCm39) I843L possibly damaging Het
Tph1 T C 7: 46,306,285 (GRCm39) probably null Het
Trdmt1 A G 2: 13,520,933 (GRCm39) L323P probably damaging Het
Ush2a A T 1: 188,285,395 (GRCm39) E1977V probably damaging Het
Utp4 A G 8: 107,640,095 (GRCm39) E468G probably benign Het
Uts2r A G 11: 121,051,558 (GRCm39) T141A possibly damaging Het
Vmn1r230 A G 17: 21,066,952 (GRCm39) Y47C 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
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
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'- GCTGTACCGTCCTTTATAATGGG -3'
(R):5'- GCAATTCCTGTGCTGTTGCC -3'

Sequencing Primer
(F):5'- GCTGTGCTACACCAAACTTG -3'
(R):5'- TTGCCTTTCAGGACGAGAGC -3'
Posted On 2019-09-13