Mutagenetix > Incidental Mutation

Incidental Mutation 'R6495:Rfc1'

520414

Institutional Source

Beutler Lab

Gene Symbol

Rfc1

Ensembl Gene

ENSMUSG00000029191

Gene Name

replication factor C (activator 1) 1

Synonyms

140kDa, Recc1, Alp145, RFC140

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6495 (G1)

Quality Score

123.008

Status

Validated

Chromosome

Chromosomal Location

65261850-65335670 bp(-) (GRCm38)

Type of Mutation

splice site (136 bp from exon)

DNA Base Change (assembly)

G to A at 65273815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172732] [ENSMUST00000203471] [ENSMUST00000203581] [ENSMUST00000203596] [ENSMUST00000204965]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000172732

SMART Domains

Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	79	93	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	342	360	N/A	INTRINSIC
BRCT	401	479	7.39e-17	SMART
low complexity region	484	502	N/A	INTRINSIC
AAA	627	762	9.65e-10	SMART
Pfam:RFC1	899	1052	5.2e-62	PFAM
low complexity region	1104	1132	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000203471

SMART Domains

Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	79	93	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	342	360	N/A	INTRINSIC
BRCT	401	479	7.39e-17	SMART
low complexity region	484	502	N/A	INTRINSIC
AAA	627	762	9.65e-10	SMART
Pfam:RFC1	899	1052	2.5e-61	PFAM
low complexity region	1104	1132	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000203581

SMART Domains

Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	79	93	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	322	339	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
BRCT	415	493	7.39e-17	SMART
low complexity region	498	516	N/A	INTRINSIC
AAA	640	775	9.65e-10	SMART
Pfam:RFC1	912	1065	2.6e-61	PFAM
low complexity region	1117	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203596

SMART Domains

Protein: ENSMUSP00000145181
Gene: ENSMUSG00000029191

Domain	Start	End	E-Value	Type
Pfam:RFC1	2	137	1.7e-46	PFAM
low complexity region	189	212	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000204965

SMART Domains

Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	79	93	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	342	360	N/A	INTRINSIC
BRCT	401	479	7.39e-17	SMART
low complexity region	484	502	N/A	INTRINSIC
AAA	627	762	9.65e-10	SMART
Pfam:RFC1	899	1052	2.5e-61	PFAM
low complexity region	1104	1131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205063

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,773,714	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,853,120	Y321*	probably null	Het
Apob	A	G	12: 7,990,394	K577R	probably null	Het
Arfgef3	A	G	10: 18,611,202		probably null	Het
Asap3	T	A	4: 136,228,479		probably null	Het
Atp13a5	C	T	16: 29,321,622		probably null	Het
Bcan	C	A	3: 87,996,597	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,208,523	T32A	probably benign	Het
Cd82	A	G	2: 93,430,012	V90A	probably benign	Het
Chd5	C	T	4: 152,367,372	R714C	probably damaging	Het
Cpb2	T	C	14: 75,275,079	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 43,691,694	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,635,065	Q766*	probably null	Het
Dusp3	T	C	11: 101,981,827	I48V	probably benign	Het
Eif3c	A	T	7: 126,547,500	F809I	probably damaging	Het
Exosc10	C	T	4: 148,562,872	P213S	probably benign	Het
Galns	C	T	8: 122,600,610	G141D	probably damaging	Het
Gm3233	A	T	10: 77,759,052		probably benign	Het
Hadha	A	T	5: 30,120,050	L714H	probably benign	Het
Map3k20	T	C	2: 72,368,419	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,324,369	L217P	probably damaging	Het
Nubp2	A	T	17: 24,885,603	D54E	probably damaging	Het
Olfr1471	T	A	19: 13,445,625	D204E	probably benign	Het
Onecut1	C	T	9: 74,863,215	R307C	probably damaging	Het
Pcdhb17	A	G	18: 37,485,667	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,489,293	C591S	probably damaging	Het
Pramef20	T	C	4: 144,376,839	N239S	probably benign	Het
Pwp2	A	T	10: 78,177,127	V549E	probably damaging	Het
Rapsn	A	T	2: 91,036,628	S92C	probably damaging	Het
Rbm19	A	G	5: 120,119,680	S90G	probably damaging	Het
Rims2	T	A	15: 39,517,812	F1046L	probably benign	Het
S100a16	C	T	3: 90,542,428	R73C	probably benign	Het
Shroom3	T	C	5: 92,942,069	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,267,320	Y253F	possibly damaging	Het
Taar8b	A	G	10: 24,091,262	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,530	V81I	probably benign	Het
Tas2r129	A	G	6: 132,951,165	I22V	probably benign	Het
Tbc1d19	T	G	5: 53,889,213		probably null	Het
Tnip3	A	T	6: 65,605,862	I218F	probably benign	Het
Tnks	A	T	8: 34,839,966		probably null	Het
Ttc29	T	C	8: 78,282,334	Y278H	possibly damaging	Het
Uba7	T	A	9: 107,977,014	C214*	probably null	Het
Vmn2r115	A	T	17: 23,359,598	I682F	probably benign	Het
Vmn2r75	A	T	7: 86,164,079	M505K	probably benign	Het
Wdr19	A	T	5: 65,258,123	T1313S	probably benign	Het
Zbtb22	A	G	17: 33,917,250	D123G	probably damaging	Het
Zcchc6	T	C	13: 59,799,939	E454G	possibly damaging	Het
Zdhhc7	A	G	8: 120,086,656	I138T	probably benign	Het
Zfp706	T	C	15: 37,003,801	K7R	unknown	Het
Zkscan3	G	A	13: 21,387,905	P519L	probably damaging	Het

Other mutations in Rfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Rfc1	APN	5	65296009	missense	probably benign	0.00
IGL00909:Rfc1	APN	5	65279699	missense	probably benign	0.00
IGL01791:Rfc1	APN	5	65263145	missense	probably benign	0.00
IGL01884:Rfc1	APN	5	65274460	missense	possibly damaging	0.94
IGL02737:Rfc1	APN	5	65311163	missense	possibly damaging	0.82
Disturbing	UTSW	5	65266162	missense	probably damaging	1.00
P0038:Rfc1	UTSW	5	65287961	missense	probably damaging	1.00
R0317:Rfc1	UTSW	5	65296052	splice site	probably null
R0452:Rfc1	UTSW	5	65264297	missense	probably benign	0.01
R0699:Rfc1	UTSW	5	65319399	splice site	probably null
R0945:Rfc1	UTSW	5	65278709	critical splice donor site	probably null
R1192:Rfc1	UTSW	5	65293911	missense	probably benign	0.03
R1341:Rfc1	UTSW	5	65291194	missense	probably damaging	1.00
R1425:Rfc1	UTSW	5	65319518	missense	probably damaging	1.00
R1551:Rfc1	UTSW	5	65277363	missense	probably damaging	0.99
R1800:Rfc1	UTSW	5	65264379	missense	probably damaging	1.00
R1969:Rfc1	UTSW	5	65319524	missense	probably damaging	1.00
R2006:Rfc1	UTSW	5	65311054	nonsense	probably null
R2026:Rfc1	UTSW	5	65288029	missense	probably damaging	1.00
R2073:Rfc1	UTSW	5	65301939	missense	probably damaging	0.98
R2137:Rfc1	UTSW	5	65311039	critical splice donor site	probably null
R2330:Rfc1	UTSW	5	65312969	missense	possibly damaging	0.94
R3774:Rfc1	UTSW	5	65264406	missense	probably damaging	1.00
R3787:Rfc1	UTSW	5	65296014	missense	probably benign	0.00
R4920:Rfc1	UTSW	5	65287928	missense	probably damaging	1.00
R5055:Rfc1	UTSW	5	65266162	missense	probably damaging	1.00
R5308:Rfc1	UTSW	5	65279461	missense	probably damaging	0.99
R5723:Rfc1	UTSW	5	65277426	missense	probably null	0.78
R5729:Rfc1	UTSW	5	65277452	missense	probably damaging	1.00
R5844:Rfc1	UTSW	5	65293787	missense	probably benign	0.19
R6045:Rfc1	UTSW	5	65279549	missense	probably damaging	1.00
R6484:Rfc1	UTSW	5	65293677	missense	probably benign	0.01
R6531:Rfc1	UTSW	5	65312979	missense	possibly damaging	0.92
R6717:Rfc1	UTSW	5	65302004	nonsense	probably null
R6717:Rfc1	UTSW	5	65312961	missense	probably damaging	0.97
R6845:Rfc1	UTSW	5	65311116	missense	possibly damaging	0.53
R6880:Rfc1	UTSW	5	65277386	missense	probably benign	0.14
R7329:Rfc1	UTSW	5	65263135	missense	unknown
R7331:Rfc1	UTSW	5	65311044	missense	probably damaging	1.00
R7466:Rfc1	UTSW	5	65275426	missense	probably damaging	1.00
R7497:Rfc1	UTSW	5	65279498	missense	probably damaging	1.00
R7588:Rfc1	UTSW	5	65272507	missense	probably damaging	1.00
R8020:Rfc1	UTSW	5	65272178	missense	probably damaging	1.00
R8056:Rfc1	UTSW	5	65294093	intron	probably benign
R8282:Rfc1	UTSW	5	65268946	critical splice donor site	probably null
R8316:Rfc1	UTSW	5	65278734	missense	probably benign	0.05
R8320:Rfc1	UTSW	5	65303036	nonsense	probably null
R8865:Rfc1	UTSW	5	65278792	missense	possibly damaging	0.89
R8968:Rfc1	UTSW	5	65275435	missense	probably benign	0.03
R8997:Rfc1	UTSW	5	65275721	missense	probably damaging	1.00
R9454:Rfc1	UTSW	5	65274431	missense
R9476:Rfc1	UTSW	5	65279799	missense	probably damaging	0.99
R9631:Rfc1	UTSW	5	65272508	missense	probably damaging	1.00
R9758:Rfc1	UTSW	5	65302048	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATAGAGACCTCTAGCTTTGGAAG -3'
(R):5'- GGTGTGCACAAAGTAAGGCC -3'

Sequencing Primer
(F):5'- GAGACCTCTAGCTTTGGAAGTTAAAC -3'
(R):5'- GTAAGGCCCTGACCTATGAC -3'

Posted On

2018-06-06