Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Rfc4'

388107

Institutional Source

Beutler Lab

Gene Symbol

Rfc4

Ensembl Gene

ENSMUSG00000022881

Gene Name

replication factor C (activator 1) 4

Synonyms

A1, RFC37

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22933046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 297 (I297T)

Ref Sequence

ENSEMBL: ENSMUSP00000110995 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably benign
Transcript: ENSMUST00000023598
AA Change: I297T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: I297T

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

possibly damaging
Transcript: ENSMUST00000115338
AA Change: I297T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: I297T

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: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

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

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: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

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: ENSMUST00000232287

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: 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: 98.5%
10x: 96.8%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Clgn	G	T	8: 84,137,152 (GRCm39)	V290F	possibly damaging	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
Gstm5	A	T	3: 107,803,258 (GRCm39)		probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mpzl1	A	G	1: 165,433,285 (GRCm39)	I122T	probably damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trim47	A	G	11: 115,997,260 (GRCm39)	V499A	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	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
R2194:Rfc4	UTSW	16	22,932,902 (GRCm39)	unclassified	probably benign
R4575:Rfc4	UTSW	16	22,933,179 (GRCm39)	unclassified	probably benign
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'- CCATCTGCCAAGCACTTGTC -3'
(R):5'- CAGTGGCTCTTTTGACAAACTAG -3'

Sequencing Primer
(F):5'- GCACTTGTCTACTTCCTACAAAAG -3'
(R):5'- GGCTCTTTTGACAAACTAGAAGCTG -3'

Posted On

2016-06-06