Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Rfc3'

293032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfc3

Ensembl Gene

ENSMUSG00000033970

Gene Name

replication factor C (activator 1) 3

Synonyms

38kDa, 38kDa, 2810416I22Rik, Recc3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

151566282-151574673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151574596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 8 (Y8H)

Ref Sequence

ENSEMBL: ENSMUSP00000039621 (fasta)

Gene Model

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

AlphaFold

Q8R323

Predicted Effect

probably benign
Transcript: ENSMUST00000038131
AA Change: Y8H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: Y8H

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: ENSMUST00000132709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145106

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 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly damaging	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
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
R6181:Rfc3	UTSW	5	151,570,985 (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

Posted On

2015-04-16