Mutagenetix > Incidental Mutation

Incidental Mutation 'R6409:Rfc4'

514790

Institutional Source

Beutler Lab

Gene Symbol

Rfc4

Ensembl Gene

ENSMUSG00000022881

Gene Name

replication factor C (activator 1) 4

Synonyms

A1, RFC37

MMRRC Submission

044554-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 22932823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 371 (*371W)

Ref Sequence

ENSEMBL: ENSMUSP00000110995 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably damaging
Transcript: ENSMUST00000023598
AA Change: E345G

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

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: E345G

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 null
Transcript: ENSMUST00000115338
AA Change: *371W

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: *371W

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: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

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: ENSMUST00000141392

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: ENSMUST00000130775

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: ENSMUST00000130483

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: 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

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

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: ENSMUST00000149328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

probably benign
Transcript: ENSMUST00000232287

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (32/33)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,902,558 (GRCm39)	Q556K	probably benign	Het
Adgrf3	A	G	5: 30,402,312 (GRCm39)	V572A	probably damaging	Het
Ahnak	G	A	19: 8,986,938 (GRCm39)	V2741M	probably benign	Het
Ascc3	T	C	10: 50,721,676 (GRCm39)	V2043A	probably benign	Het
B3glct	C	T	5: 149,658,916 (GRCm39)	R239C	probably benign	Het
Cacna2d4	T	A	6: 119,259,189 (GRCm39)	V626E	probably damaging	Het
Cdcp3	G	A	7: 130,863,800 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,803,354 (GRCm39)	N1563D	probably benign	Het
Duox2	G	C	2: 122,115,148 (GRCm39)	H1110D	probably damaging	Het
Inppl1	A	T	7: 101,478,168 (GRCm39)	F648I	probably damaging	Het
Mefv	C	A	16: 3,528,657 (GRCm39)		probably null	Het
Ms4a4b	T	C	19: 11,438,724 (GRCm39)		probably null	Het
Mtus2	T	C	5: 148,014,425 (GRCm39)	V406A	probably benign	Het
Nup88	T	C	11: 70,835,798 (GRCm39)	R554G	probably null	Het
Or1x2	A	G	11: 50,918,015 (GRCm39)	Y62C	probably damaging	Het
Or4d10	C	T	19: 12,052,111 (GRCm39)		probably benign	Het
Or8h8	A	T	2: 86,753,515 (GRCm39)	Y120*	probably null	Het
Pde10a	A	G	17: 9,168,270 (GRCm39)	D246G	probably damaging	Het
Pmm1	T	C	15: 81,845,008 (GRCm39)	T9A	probably benign	Het
Pramel19	C	T	4: 101,797,874 (GRCm39)	Q91*	probably null	Het
Psg18	T	C	7: 18,087,446 (GRCm39)	M71V	probably benign	Het
Rapgef4	A	G	2: 72,008,581 (GRCm39)	H253R	probably benign	Het
Rgs18	T	A	1: 144,650,931 (GRCm39)	K17*	probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sertm1	T	C	3: 54,806,788 (GRCm39)	Y79C	probably benign	Het
Sfrp1	T	C	8: 23,907,394 (GRCm39)	I198T	possibly damaging	Het
Slc15a2	T	A	16: 36,582,232 (GRCm39)	I254F	probably benign	Het
Slc29a4	A	G	5: 142,697,826 (GRCm39)	D93G	probably damaging	Het
Smo	T	C	6: 29,736,113 (GRCm39)	L35S	unknown	Het
Tbc1d8	A	G	1: 39,411,669 (GRCm39)	S1056P	probably benign	Het
Ttll9	A	G	2: 152,841,261 (GRCm39)	D286G	probably damaging	Het
Vmn2r14	A	G	5: 109,364,096 (GRCm39)	Y607H	probably benign	Het
Vps8	T	A	16: 21,297,189 (GRCm39)	C564S	probably benign	Het
Zc3h12d	A	G	10: 7,743,082 (GRCm39)	H284R	probably benign	Het
Zfp106	A	T	2: 120,362,585 (GRCm39)	S79T	probably 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
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
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'- CTGTTGCTAAGCCTCAGCAAG -3'
(R):5'- GCTTGTCAATCAACTTCATGATGC -3'

Sequencing Primer
(F):5'- GCAATCATCCTAGGTAGGGTTAAACC -3'
(R):5'- CTTGCTGTAAGCTGTAAGC -3'

Posted On

2018-05-04