Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Rfc4'

52962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfc4

Ensembl Gene

ENSMUSG00000022881

Gene Name

replication factor C (activator 1) 4

Synonyms

A1, RFC37

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

23113943-23127737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23115776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 165 (R165C)

Ref Sequence

ENSEMBL: ENSMUSP00000115479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000023599] [ENSMUST00000077605] [ENSMUST00000115337] [ENSMUST00000115338] [ENSMUST00000115341] [ENSMUST00000123413] [ENSMUST00000131871] [ENSMUST00000133847] [ENSMUST00000187168] [ENSMUST00000147117] [ENSMUST00000232287] [ENSMUST00000168891]

AlphaFold

Q99J62

Predicted Effect

probably damaging
Transcript: ENSMUST00000023598
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: R165C

Domain	Start	End	E-Value	Type
AAA	70	202	5.8e-13	SMART
Pfam:Rep_fac_C	267	356	2.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023599

SMART Domains

Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	368	5.21e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077605

SMART Domains

Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083274

Predicted Effect

probably benign
Transcript: ENSMUST00000115337

SMART Domains

Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881

Domain	Start	End	E-Value	Type
SCOP:d1iqpa2	29	67	2e-5	SMART
PDB:1SXJ\|D	39	76	4e-8	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000115338
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: R165C

Domain	Start	End	E-Value	Type
AAA	70	202	5.8e-13	SMART
Pfam:Rep_fac_C	269	344	3.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115341

SMART Domains

Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	53	251	4.62e-58	SMART
HELICc	288	369	5.21e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123413

SMART Domains

Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

probably benign
Transcript: ENSMUST00000131871

SMART Domains

Protein: ENSMUSP00000118141
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
PDB:3EIQ\|D	4	70	2e-33	PDB
Blast:DEXDc	17	73	3e-25	BLAST
SCOP:d1qdea_	25	71	2e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133847
AA Change: R165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: R165C

Domain	Start	End	E-Value	Type
Pfam:Rad17	32	97	3.7e-9	PFAM
Pfam:AAA	74	98	2.4e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

probably benign
Transcript: ENSMUST00000187168

SMART Domains

Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147117

SMART Domains

Protein: ENSMUSP00000121745
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
PDB:3EIQ\|D	4	69	4e-33	PDB
Blast:DEXDc	16	72	3e-25	BLAST
SCOP:d1qdea_	24	70	2e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232287

Predicted Effect

probably benign
Transcript: ENSMUST00000168891

SMART Domains

Protein: ENSMUSP00000127030
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	1	155	1.92e-14	SMART
HELICc	192	273	5.21e-34	SMART

Coding Region Coverage

Validation Efficiency

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 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Rfc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Rfc4	APN	16	23115823	missense	probably damaging	1.00
IGL02238:Rfc4	APN	16	23114469	missense	probably damaging	0.99
IGL02693:Rfc4	APN	16	23114210	missense	probably damaging	1.00
rifraf	UTSW	16	23114073	makesense	probably null
R0094:Rfc4	UTSW	16	23115428	missense	probably benign	0.03
R0230:Rfc4	UTSW	16	23114099	nonsense	probably null
R1493:Rfc4	UTSW	16	23118008	missense	probably damaging	1.00
R1699:Rfc4	UTSW	16	23114233	missense	probably benign	0.00
R2119:Rfc4	UTSW	16	23124564	missense	probably damaging	1.00
R2194:Rfc4	UTSW	16	23114152	unclassified	probably benign
R4575:Rfc4	UTSW	16	23114429	unclassified	probably benign
R5097:Rfc4	UTSW	16	23114296	missense	possibly damaging	0.82
R5495:Rfc4	UTSW	16	23122254	intron	probably benign
R6118:Rfc4	UTSW	16	23120943	missense	probably damaging	1.00
R6160:Rfc4	UTSW	16	23114683	missense	probably damaging	1.00
R6232:Rfc4	UTSW	16	23114090	unclassified	probably benign
R6281:Rfc4	UTSW	16	23118066	splice site	probably null
R6310:Rfc4	UTSW	16	23114709	missense	probably benign	0.37
R6409:Rfc4	UTSW	16	23114073	makesense	probably null
R6411:Rfc4	UTSW	16	23114073	makesense	probably null
R7161:Rfc4	UTSW	16	23115433	missense	probably benign	0.03
R7202:Rfc4	UTSW	16	23127609	start gained	probably benign
R7693:Rfc4	UTSW	16	23127413	missense	probably damaging	1.00
R7951:Rfc4	UTSW	16	23115385	missense	probably benign	0.34
RF010:Rfc4	UTSW	16	23127482	missense	probably benign

Posted On

2013-06-21