Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:Rfc4'

285976

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: 0.963) question?

Stock #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22933219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 286 (F286L)

Ref Sequence

ENSEMBL: ENSMUSP00000110995 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably benign
Transcript: ENSMUST00000023598
AA Change: F286L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: F286L

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: ENSMUST00000082946

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: F286L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: F286L

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

noncoding transcript
Transcript: ENSMUST00000130113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

probably benign
Transcript: ENSMUST00000133847

SMART Domains

Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881

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

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 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

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: 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

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152129

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

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: ENSMUST00000232287

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,995,829 (GRCm39)	I1322N	probably benign	Het
Adamts1	A	T	16: 85,592,713 (GRCm39)	M565K	probably benign	Het
Akr1b7	T	A	6: 34,392,333 (GRCm39)	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,390,757 (GRCm39)	V363E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,605 (GRCm39)	T735I	probably damaging	Het
Cds1	T	A	5: 101,962,302 (GRCm39)	C306S	possibly damaging	Het
Cfap251	T	C	5: 123,440,486 (GRCm39)	Y1091H	probably damaging	Het
Clasp2	T	C	9: 113,709,088 (GRCm39)	C644R	probably damaging	Het
Coil	T	C	11: 88,872,580 (GRCm39)	S314P	probably benign	Het
D630045J12Rik	T	A	6: 38,173,329 (GRCm39)	M280L	probably benign	Het
Dmxl2	C	T	9: 54,352,717 (GRCm39)	V795M	probably damaging	Het
Dock10	A	G	1: 80,511,510 (GRCm39)	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,789,536 (GRCm39)	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Fmn1	T	C	2: 113,412,470 (GRCm39)	V870A	possibly damaging	Het
Ifi44	A	G	3: 151,438,019 (GRCm39)	*423Q	probably null	Het
Invs	T	C	4: 48,390,029 (GRCm39)	V173A	probably damaging	Het
Krt88	A	G	15: 101,350,486 (GRCm39)		probably benign	Het
Mctp2	A	T	7: 71,739,953 (GRCm39)	Y812*	probably null	Het
Neto2	T	C	8: 86,396,292 (GRCm39)	I118V	probably damaging	Het
Nutm2	T	G	13: 50,625,075 (GRCm39)	M264R	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or8u8	T	C	2: 86,011,939 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 81,964,688 (GRCm39)	R285Q	probably damaging	Het
Pi16	G	T	17: 29,545,269 (GRCm39)	K177N	probably damaging	Het
Pigg	C	T	5: 108,466,794 (GRCm39)	S225F	possibly damaging	Het
Prrc2b	T	A	2: 32,103,429 (GRCm39)	V969E	probably damaging	Het
Rab4b	A	C	7: 26,872,154 (GRCm39)	Y189D	probably benign	Het
Ran	A	G	5: 129,099,246 (GRCm39)	N143D	possibly damaging	Het
Sel1l2	T	C	2: 140,089,859 (GRCm39)	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,482 (GRCm39)	I354V	probably benign	Het
Slc7a2	A	T	8: 41,361,193 (GRCm39)	T386S	probably benign	Het
Tm2d2	G	T	8: 25,512,787 (GRCm39)	V212F	probably benign	Het
Tmem247	A	T	17: 87,225,721 (GRCm39)	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,633,117 (GRCm39)	Y206N	probably benign	Het
Uba5	T	C	9: 103,931,259 (GRCm39)		probably benign	Het
Vmn2r54	A	G	7: 12,369,910 (GRCm39)	L51P	probably damaging	Het
Zfp735	A	G	11: 73,601,319 (GRCm39)	K88E	probably benign	Het

Other mutations in Rfc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Rfc4	APN	16	22,934,526 (GRCm39)	missense	probably damaging	1.00
IGL01625:Rfc4	APN	16	22,934,573 (GRCm39)	missense	probably damaging	1.00
IGL02693:Rfc4	APN	16	22,932,960 (GRCm39)	missense	probably damaging	1.00
rifraf	UTSW	16	22,932,823 (GRCm39)	makesense	probably null
R0094:Rfc4	UTSW	16	22,934,178 (GRCm39)	missense	probably benign	0.03
R0230:Rfc4	UTSW	16	22,932,849 (GRCm39)	nonsense	probably null
R1493:Rfc4	UTSW	16	22,936,758 (GRCm39)	missense	probably damaging	1.00
R1699:Rfc4	UTSW	16	22,932,983 (GRCm39)	missense	probably benign	0.00
R2119:Rfc4	UTSW	16	22,943,314 (GRCm39)	missense	probably damaging	1.00
R2194:Rfc4	UTSW	16	22,932,902 (GRCm39)	unclassified	probably benign
R4575:Rfc4	UTSW	16	22,933,179 (GRCm39)	unclassified	probably benign
R5097:Rfc4	UTSW	16	22,933,046 (GRCm39)	missense	possibly damaging	0.82
R5495:Rfc4	UTSW	16	22,941,004 (GRCm39)	intron	probably benign
R6118:Rfc4	UTSW	16	22,939,693 (GRCm39)	missense	probably damaging	1.00
R6160:Rfc4	UTSW	16	22,933,433 (GRCm39)	missense	probably damaging	1.00
R6232:Rfc4	UTSW	16	22,932,840 (GRCm39)	unclassified	probably benign
R6281:Rfc4	UTSW	16	22,936,816 (GRCm39)	splice site	probably null
R6310:Rfc4	UTSW	16	22,933,459 (GRCm39)	missense	probably benign	0.37
R6409:Rfc4	UTSW	16	22,932,823 (GRCm39)	makesense	probably null
R6411:Rfc4	UTSW	16	22,932,823 (GRCm39)	makesense	probably null
R7161:Rfc4	UTSW	16	22,934,183 (GRCm39)	missense	probably benign	0.03
R7202:Rfc4	UTSW	16	22,946,359 (GRCm39)	start gained	probably benign
R7693:Rfc4	UTSW	16	22,946,163 (GRCm39)	missense	probably damaging	1.00
R7951:Rfc4	UTSW	16	22,934,135 (GRCm39)	missense	probably benign	0.34
RF010:Rfc4	UTSW	16	22,946,232 (GRCm39)	missense	probably benign

Posted On

2015-04-16