Incidental Mutation 'IGL00909:Rfc1'
ID 27394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfc1
Ensembl Gene ENSMUSG00000029191
Gene Name replication factor C (activator 1) 1
Synonyms Recc1, RFC140, 140kDa, Alp145
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00909
Quality Score
Status
Chromosome 5
Chromosomal Location 65419193-65493013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65437042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 546 (L546P)
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 probably benign
Transcript: ENSMUST00000172732
AA Change: L532P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: L532P

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 benign
Transcript: ENSMUST00000172780
AA Change: L546P
SMART Domains Protein: ENSMUSP00000133738
Gene: ENSMUSG00000029191
AA Change: L546P

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 benign
Transcript: ENSMUST00000203471
AA Change: L532P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: L532P

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: ENSMUST00000203581
AA Change: L546P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: L546P

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 benign
Transcript: ENSMUST00000204965
AA Change: L532P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: L532P

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Coq9 C T 8: 95,578,530 (GRCm39) L215F possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Ift43 A G 12: 86,208,807 (GRCm39) E141G probably damaging Het
Mrps31 T G 8: 22,917,841 (GRCm39) F287V probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Ppip5k1 G A 2: 121,177,839 (GRCm39) R323W probably damaging Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rheb A T 5: 25,012,073 (GRCm39) I129N probably damaging Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Rfc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Rfc1 APN 5 65,453,352 (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
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
Posted On 2013-04-17