Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Rfc3'

488077

Institutional Source

Beutler Lab

Gene Symbol

Rfc3

Ensembl Gene

ENSMUSG00000033970

Gene Name

replication factor C (activator 1) 3

Synonyms

38kDa, 38kDa, 2810416I22Rik, Recc3

MMRRC Submission

044323-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151566282-151574673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 151570985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 104 (D104N)

Ref Sequence

ENSEMBL: ENSMUSP00000039621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038131]

AlphaFold

Q8R323

Predicted Effect

probably damaging
Transcript: ENSMUST00000038131
AA Change: D104N

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

SMART Domains

Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: D104N

Domain	Start	End	E-Value	Type
AAA	34	190	1.5e-6	SMART
Pfam:Rep_fac_C	216	338	7.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156667

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,751,608 (GRCm39)	D322E	probably benign	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp27b1	A	C	10: 126,886,279 (GRCm39)	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Guf1	A	G	5: 69,719,059 (GRCm39)	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tet2	C	A	3: 133,193,520 (GRCm39)	E305*	probably null	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,294,019 (GRCm39)	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	probably benign	Het

Other mutations in Rfc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Rfc3	APN	5	151,566,401 (GRCm39)	missense	probably benign	0.00
IGL02429:Rfc3	APN	5	151,574,596 (GRCm39)	missense	probably benign	0.01
IGL02588:Rfc3	APN	5	151,566,381 (GRCm39)	missense	possibly damaging	0.69
IGL02878:Rfc3	APN	5	151,566,379 (GRCm39)	makesense	probably null
IGL03109:Rfc3	APN	5	151,566,559 (GRCm39)	missense	probably benign	0.10
R0129:Rfc3	UTSW	5	151,574,616 (GRCm39)	start codon destroyed	probably null	1.00
R0456:Rfc3	UTSW	5	151,570,988 (GRCm39)	missense	possibly damaging	0.61
R2015:Rfc3	UTSW	5	151,571,003 (GRCm39)	critical splice acceptor site	probably null
R2096:Rfc3	UTSW	5	151,568,383 (GRCm39)	missense	probably benign	0.03
R2306:Rfc3	UTSW	5	151,567,243 (GRCm39)	missense	probably damaging	1.00
R4223:Rfc3	UTSW	5	151,574,637 (GRCm39)	start gained	probably benign
R4739:Rfc3	UTSW	5	151,568,241 (GRCm39)	splice site	probably benign
R4906:Rfc3	UTSW	5	151,570,960 (GRCm39)	missense	probably damaging	0.98
R4945:Rfc3	UTSW	5	151,566,450 (GRCm39)	missense	probably damaging	1.00
R5643:Rfc3	UTSW	5	151,573,444 (GRCm39)	missense	probably benign	0.05
R5644:Rfc3	UTSW	5	151,573,444 (GRCm39)	missense	probably benign	0.05
R6011:Rfc3	UTSW	5	151,567,184 (GRCm39)	missense	probably damaging	1.00
R6885:Rfc3	UTSW	5	151,571,749 (GRCm39)	missense	probably benign	0.00
R7509:Rfc3	UTSW	5	151,570,975 (GRCm39)	missense	probably damaging	1.00
R7587:Rfc3	UTSW	5	151,574,616 (GRCm39)	start codon destroyed	probably null	1.00
R8346:Rfc3	UTSW	5	151,569,100 (GRCm39)	missense	probably damaging	1.00
R8414:Rfc3	UTSW	5	151,568,381 (GRCm39)	missense	possibly damaging	0.94
R9140:Rfc3	UTSW	5	151,568,141 (GRCm39)	missense	probably benign	0.17
R9492:Rfc3	UTSW	5	151,566,411 (GRCm39)	missense	probably damaging	0.99
Z1088:Rfc3	UTSW	5	151,568,327 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGGCTTCCATTCATATGTC -3'
(R):5'- CTCAAGTTTCAAGGTTCCTACTTG -3'

Sequencing Primer
(F):5'- CACTCTATAAAACAGGCTGGCTTGG -3'
(R):5'- GAGTGAGGGTGCAATACT -3'

Posted On

2017-10-10