Mutagenetix > Incidental Mutation

Incidental Mutation 'R2194:Rfc4'

238306

Institutional Source

Beutler Lab

Gene Symbol

Rfc4

Ensembl Gene

ENSMUSG00000022881

Gene Name

replication factor C (activator 1) 4

Synonyms

A1, RFC37

MMRRC Submission

040196-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2194 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TTTGTTGTTGTTG to TTTGTTGTTG at 22932902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156170 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably benign
Transcript: ENSMUST00000023598

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881

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

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881

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: ENSMUST00000134816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

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: 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

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh2	T	C	18: 16,773,505 (GRCm39)	T275A	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fkbp5	T	C	17: 28,657,001 (GRCm39)	D72G	probably benign	Het
Gm8104	T	C	14: 42,959,017 (GRCm39)	M69T	possibly damaging	Het
Greb1	T	C	12: 16,740,909 (GRCm39)	E1391G	probably benign	Het
Hif1a	A	G	12: 73,977,521 (GRCm39)	N183S	probably damaging	Het
Hnrnpul1	A	G	7: 25,425,347 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ighmbp2	T	C	19: 3,315,116 (GRCm39)	D768G	probably benign	Het
Kitl	T	G	10: 99,851,899 (GRCm39)		probably null	Het
Mfsd4b4	T	A	10: 39,768,919 (GRCm39)	N104I	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2t49	T	C	11: 58,392,468 (GRCm39)	K305E	probably damaging	Het
Pcdhb4	T	C	18: 37,441,788 (GRCm39)	V366A	probably damaging	Het
Polb	C	T	8: 23,137,483 (GRCm39)	R89H	probably benign	Het
Rnf40	C	A	7: 127,196,407 (GRCm39)	A785D	probably damaging	Het
St7	A	G	6: 17,942,718 (GRCm39)	E494G	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,409 (GRCm39)	E1112G	probably benign	Het
Zfp607a	A	G	7: 27,578,805 (GRCm39)	E625G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TAACTGGTTTCATACAAAAGGGGAG -3'
(R):5'- GCACTTAACAAGGCAGAGGC -3'

Sequencing Primer
(F):5'- GAGATGAAGCCTCTAACAGTTCTG -3'
(R):5'- GGCCAGGGCAATCTGTAAC -3'

Posted On

2014-10-02