Mutagenetix > Incidental Mutation

Incidental Mutation 'R6310:Rfc4'

509560

Institutional Source

Beutler Lab

Gene Symbol

Rfc4

Ensembl Gene

ENSMUSG00000022881

Gene Name

replication factor C (activator 1) 4

Synonyms

A1, RFC37

MMRRC Submission

044414-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22933459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 233 (I233M)

Ref Sequence

ENSEMBL: ENSMUSP00000110995 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably benign
Transcript: ENSMUST00000023598
AA Change: I233M

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: I233M

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 benign
Transcript: ENSMUST00000115338
AA Change: I233M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: I233M

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: ENSMUST00000133847
AA Change: I233M

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: I233M

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: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130113

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: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

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

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

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

noncoding transcript
Transcript: ENSMUST00000130483

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: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

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

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

probably benign
Transcript: ENSMUST00000232287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,373,046 (GRCm39)	G856A	possibly damaging	Het
Adgrb3	T	A	1: 25,150,799 (GRCm39)	M1145L	probably benign	Het
Akap13	A	T	7: 75,398,941 (GRCm39)	H2673L	probably damaging	Het
Bmpr1b	A	G	3: 141,570,297 (GRCm39)	S131P	probably damaging	Het
Cep72	A	C	13: 74,201,144 (GRCm39)	S175A	possibly damaging	Het
Chd2	C	T	7: 73,102,912 (GRCm39)	E1358K	probably damaging	Het
Cmip	T	C	8: 118,156,549 (GRCm39)	I308T	possibly damaging	Het
Cps1	A	T	1: 67,182,140 (GRCm39)	N118I	probably benign	Het
Cux1	C	T	5: 136,304,018 (GRCm39)	G1265D	probably benign	Het
Ddx24	C	A	12: 103,390,166 (GRCm39)	R275L	probably damaging	Het
Dhx58	T	C	11: 100,590,193 (GRCm39)	S364G	probably benign	Het
Dis3l	A	C	9: 64,229,857 (GRCm39)	V274G	probably benign	Het
Fryl	A	T	5: 73,349,104 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,268,444 (GRCm39)	H1272R	probably damaging	Het
Gjb3	A	G	4: 127,220,433 (GRCm39)	V33A	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm9964	T	C	11: 79,187,476 (GRCm39)		probably benign	Het
Grk5	T	C	19: 61,069,349 (GRCm39)	I342T	probably damaging	Het
Hnf1b	T	A	11: 83,795,737 (GRCm39)	C527S	probably damaging	Het
Hoxd4	G	T	2: 74,558,734 (GRCm39)	A186S	possibly damaging	Het
Ighv1-78	G	A	12: 115,832,584 (GRCm39)	H54Y	probably benign	Het
Intu	T	A	3: 40,655,721 (GRCm39)	L936*	probably null	Het
Kcp	G	A	6: 29,493,257 (GRCm39)	R89W	probably damaging	Het
Kctd3	T	C	1: 188,704,435 (GRCm39)	T779A	probably benign	Het
Muc16	G	A	9: 18,553,246 (GRCm39)	P4349L	probably benign	Het
Nedd9	T	C	13: 41,471,928 (GRCm39)	T178A	probably benign	Het
Nuak2	G	T	1: 132,257,699 (GRCm39)	A204S	probably damaging	Het
Or51f1	T	A	7: 102,506,412 (GRCm39)	I26F	probably benign	Het
Or6c214	T	C	10: 129,590,528 (GRCm39)	R264G	probably benign	Het
Pcdhac2	C	A	18: 37,278,824 (GRCm39)	Y601*	probably null	Het
Pla2g4a	T	A	1: 149,717,977 (GRCm39)	D624V	possibly damaging	Het
Plxnb1	T	C	9: 108,938,796 (GRCm39)	V1386A	probably damaging	Het
Plxnd1	T	A	6: 115,953,697 (GRCm39)	L623F	possibly damaging	Het
Pms2	T	A	5: 143,860,401 (GRCm39)	S71R	probably benign	Het
Prkg1	T	C	19: 30,546,651 (GRCm39)	D683G	probably damaging	Het
Rasgrp3	T	A	17: 75,801,204 (GRCm39)	Y45N	probably damaging	Het
Sema3a	G	A	5: 13,606,986 (GRCm39)	G274S	probably damaging	Het
Sesn1	T	C	10: 41,772,074 (GRCm39)	L201P	probably damaging	Het
Setx	G	A	2: 29,066,947 (GRCm39)	V2363I	possibly damaging	Het
Sh3glb1	A	G	3: 144,403,228 (GRCm39)	S81P	probably damaging	Het
Sik3	A	G	9: 46,089,784 (GRCm39)	S218G	probably damaging	Het
Slc12a2	C	G	18: 58,048,578 (GRCm39)	F781L	probably damaging	Het
Slc12a6	A	T	2: 112,166,184 (GRCm39)	I188F	probably damaging	Het
Slc34a2	A	G	5: 53,222,139 (GRCm39)		probably null	Het
Slc35f4	A	G	14: 49,559,914 (GRCm39)	C44R	probably damaging	Het
Sytl1	G	A	4: 132,988,309 (GRCm39)	P16S	probably benign	Het
Taok3	C	T	5: 117,394,003 (GRCm39)	T592M	possibly damaging	Het
Tgfb1i1	T	C	7: 127,852,009 (GRCm39)	F303L	probably damaging	Het
Txk	T	C	5: 72,893,760 (GRCm39)	S7G	probably benign	Het
Utp4	T	C	8: 107,645,253 (GRCm39)	V550A	probably benign	Het
Vmn1r229	G	A	17: 21,034,976 (GRCm39)	D74N	probably benign	Het
Zfp638	A	G	6: 83,844,212 (GRCm39)	D25G	possibly damaging	Het
Zfp646	T	C	7: 127,483,079 (GRCm39)	V1752A	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
IGL02238:Rfc4	APN	16	22,933,219 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- ATTAACAGTCAGGGCAAGCTC -3'
(R):5'- TTGGGGAGGTCTTGAAAATAATGC -3'

Sequencing Primer
(F):5'- TTAACAGTCAGGGCAAGCTCTCTAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2018-04-02