Mutagenetix > Incidental Mutations

Incidental Mutation 'R4223:Rfc3'

319450

Institutional Source

Beutler Lab

Gene Symbol

Rfc3

Ensembl Gene

ENSMUSG00000033970

Gene Name

replication factor C (activator 1) 3

Synonyms

2810416I22Rik, Recc3, 38kDa, 38kDa

MMRRC Submission

041043-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R4223 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

151642756-151651242 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 151651172 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038131]

Predicted Effect

probably benign
Transcript: ENSMUST00000038131

SMART Domains

Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970

Domain	Start	End	E-Value	Type
AAA	34	190	1.5e-6	SMART
Pfam:Rep_fac_C	216	338	7.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145106

Meta Mutation Damage Score

0.056

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 79,094,452	Y43H	probably damaging	Het
Aamp	A	T	1: 74,281,126	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,813,722	L226M	probably damaging	Het
Acap1	A	G	11: 69,883,685	S396P	probably damaging	Het
Aif1l	A	T	2: 31,962,239	S40C	probably damaging	Het
Atp1a3	T	C	7: 25,000,930	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352		noncoding transcript	Het
C130026I21Rik	T	C	1: 85,112,557	D83G	probably damaging	Het
Ccdc116	A	G	16: 17,146,945		probably benign	Het
Cmtm5	T	A	14: 54,937,919	C51S	probably damaging	Het
Cyb5rl	T	C	4: 107,080,988	V214A	probably damaging	Het
Cyp4x1	A	T	4: 115,112,880	I350N	probably damaging	Het
Efcab6	C	A	15: 83,867,108	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,566,299		probably benign	Het
Epha3	G	A	16: 63,583,539	S733L	probably damaging	Het
Esyt1	T	C	10: 128,520,648	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,238,356	F4L	probably benign	Het
Glis1	T	C	4: 107,567,845	S218P	probably benign	Het
Gm15854	A	T	6: 129,972,463		noncoding transcript	Het
Gm29125	T	C	1: 80,383,519		noncoding transcript	Het
Inpp5a	T	C	7: 139,558,905	V263A	possibly damaging	Het
Itgb1	T	G	8: 128,714,143	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,258	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,109,982	L72F	probably damaging	Het
Lama3	T	C	18: 12,450,403	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,196,116	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,983,035	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,066,608		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251	D172E	probably benign	Het
Olfr1288	A	T	2: 111,479,144	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,022,613	K61E	probably damaging	Het
Pak2	G	T	16: 32,052,210	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,753,803	D675E	probably benign	Het
Pcolce	T	A	5: 137,605,127		probably benign	Het
Phc3	A	T	3: 30,936,819	S383R	probably damaging	Het
Phf1	C	T	17: 26,937,500	R539*	probably null	Het
Plch1	G	A	3: 63,701,900	T48I	probably damaging	Het
Plekha2	A	G	8: 25,043,020	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,982,114	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,414,715	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,859,213	I125T	probably benign	Het
Rpa2	T	G	4: 132,776,744	I69S	probably damaging	Het
Rtn4	G	A	11: 29,706,856	V337I	probably benign	Het
Rttn	T	C	18: 89,095,584	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,219,053	P548L	possibly damaging	Het
Slc12a2	T	A	18: 57,910,256	S591T	probably damaging	Het
Slc25a45	A	T	19: 5,880,118	I39F	probably damaging	Het
Slc38a9	G	A	13: 112,714,248		probably null	Het
Slc9a4	T	C	1: 40,619,126	V603A	probably damaging	Het
Snx19	T	G	9: 30,428,448	V294G	possibly damaging	Het
Sspo	G	T	6: 48,451,157	V313L	possibly damaging	Het
Stard9	A	G	2: 120,664,991	T116A	possibly damaging	Het
Strn3	C	T	12: 51,627,855	R382Q	probably damaging	Het
Trim43b	T	A	9: 89,090,639	Q154L	probably benign	Het
Trps1	A	G	15: 50,846,648	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,183,978	M183L	probably benign	Het
Vmn2r60	A	T	7: 42,116,528	T20S	probably benign	Het
Wdr81	T	C	11: 75,448,002	T1444A	probably benign	Het
Xirp2	A	T	2: 67,516,493	E3026V	possibly damaging	Het

Other mutations in Rfc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Rfc3	APN	5	151642936	missense	probably benign	0.00
IGL02429:Rfc3	APN	5	151651131	missense	probably benign	0.01
IGL02588:Rfc3	APN	5	151642916	missense	possibly damaging	0.69
IGL02878:Rfc3	APN	5	151642914	makesense	probably null
IGL03109:Rfc3	APN	5	151643094	missense	probably benign	0.10
R0129:Rfc3	UTSW	5	151651151	start codon destroyed	probably null	1.00
R0456:Rfc3	UTSW	5	151647523	missense	possibly damaging	0.61
R2015:Rfc3	UTSW	5	151647538	critical splice acceptor site	probably null
R2096:Rfc3	UTSW	5	151644918	missense	probably benign	0.03
R2306:Rfc3	UTSW	5	151643778	missense	probably damaging	1.00
R4739:Rfc3	UTSW	5	151644776	splice site	probably benign
R4906:Rfc3	UTSW	5	151647495	missense	probably damaging	0.98
R4945:Rfc3	UTSW	5	151642985	missense	probably damaging	1.00
R5643:Rfc3	UTSW	5	151649979	missense	probably benign	0.05
R5644:Rfc3	UTSW	5	151649979	missense	probably benign	0.05
R6011:Rfc3	UTSW	5	151643719	missense	probably damaging	1.00
R6181:Rfc3	UTSW	5	151647520	missense	probably damaging	1.00
R6883:Rfc3	UTSW	5	151648284	missense	probably benign	0.00
Z1088:Rfc3	UTSW	5	151644862	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAGGAACGCGTCACTCTG -3'
(R):5'- AAATCCAGCGACTGTTGGTG -3'

Sequencing Primer
(F):5'- TGACCCCCTCGCTAGCAC -3'
(R):5'- TGCAGTGGTGGAAGTGGGAAC -3'

Posted On

2015-06-10