Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01625:Rfc4'

92712

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 #

IGL01625

Quality Score

Status

Chromosome

Chromosomal Location

22932698-22946480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22934573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 149 (L149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115479 (fasta)

Gene Model

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

AlphaFold

Q99J62

Predicted Effect

probably damaging
Transcript: ENSMUST00000023598
AA Change: L149Q

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

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: L149Q

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: 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: L149Q

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

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: L149Q

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: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

probably damaging
Transcript: ENSMUST00000133847
AA Change: L149Q

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

SMART Domains

Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: L149Q

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: 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: 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: 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: 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: 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: ENSMUST00000197708

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,979,957 (GRCm39)	H37Q	possibly damaging	Het
Akr1c19	T	A	13: 4,283,816 (GRCm39)	I16N	probably damaging	Het
Arpc1b	T	C	5: 145,058,555 (GRCm39)		probably null	Het
Bzw1	A	G	1: 58,440,599 (GRCm39)	T191A	probably benign	Het
Cacna1h	G	A	17: 25,604,686 (GRCm39)	T1209I	possibly damaging	Het
Cacna1h	T	C	17: 25,602,459 (GRCm39)	D1523G	probably damaging	Het
Cdc20b	T	C	13: 113,196,319 (GRCm39)	L148P	possibly damaging	Het
Cubn	A	G	2: 13,311,085 (GRCm39)	F3147L	possibly damaging	Het
Dagla	A	G	19: 10,228,566 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,935,471 (GRCm39)	N1983D	probably damaging	Het
Fbxw10	G	A	11: 62,750,853 (GRCm39)	D479N	probably damaging	Het
Fer	A	T	17: 64,344,621 (GRCm39)	Q630L	probably damaging	Het
Gbp5	A	G	3: 142,208,789 (GRCm39)	N111D	probably damaging	Het
Gm8127	T	G	14: 43,148,520 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,428,409 (GRCm39)	N814K	probably damaging	Het
Iba57	G	A	11: 59,049,775 (GRCm39)	R191W	probably damaging	Het
Itgae	C	A	11: 73,010,263 (GRCm39)	F584L	probably benign	Het
Kdm5b	A	G	1: 134,545,706 (GRCm39)	K956E	possibly damaging	Het
Muc4	C	T	16: 32,575,918 (GRCm39)		probably benign	Het
Mybpc2	T	C	7: 44,166,337 (GRCm39)	K218E	possibly damaging	Het
Pcdh10	T	C	3: 45,333,832 (GRCm39)	S49P	probably damaging	Het
Prss3b	A	C	6: 41,009,882 (GRCm39)	S151A	probably benign	Het
Rai14	T	C	15: 10,572,460 (GRCm39)	D889G	probably benign	Het
Rbpjl	A	G	2: 164,249,705 (GRCm39)	K102R	possibly damaging	Het
Retreg2	A	G	1: 75,121,359 (GRCm39)		probably benign	Het
Rft1	T	A	14: 30,398,853 (GRCm39)	D274E	possibly damaging	Het
Rlf	A	T	4: 121,045,457 (GRCm39)	S143R	possibly damaging	Het
Rptn	T	A	3: 93,305,201 (GRCm39)	S845T	probably benign	Het
Slamf8	C	A	1: 172,410,049 (GRCm39)	D267Y	probably damaging	Het
Smoc2	C	T	17: 14,545,876 (GRCm39)	S55L	probably damaging	Het
Sptan1	C	T	2: 29,916,126 (GRCm39)	A2038V	probably damaging	Het
Stx17	C	A	4: 48,181,526 (GRCm39)	P210T	probably damaging	Het
Tbc1d5	A	G	17: 51,224,601 (GRCm39)	Y317H	probably benign	Het
Tenm4	C	A	7: 96,534,565 (GRCm39)	T1737N	probably damaging	Het
Tesk2	T	C	4: 116,628,998 (GRCm39)	F116L	possibly damaging	Het
Tln2	T	C	9: 67,277,905 (GRCm39)	S370G	probably damaging	Het
Tm6sf2	G	T	8: 70,528,733 (GRCm39)	G162C	probably null	Het
Togaram2	A	C	17: 72,021,693 (GRCm39)	E718D	probably benign	Het
Ttn	A	C	2: 76,578,327 (GRCm39)	F15862V	probably damaging	Het
Uba6	T	A	5: 86,268,388 (GRCm39)	R916*	probably null	Het
Umodl1	A	G	17: 31,215,229 (GRCm39)	M1018V	probably benign	Het
Wdr26	G	A	1: 181,019,381 (GRCm39)	T332I	possibly damaging	Het
Xdh	A	T	17: 74,223,781 (GRCm39)		probably null	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
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
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

2013-12-09