Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Rfc1'

638244

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 #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65261850-65335670 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65268946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145385 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330408A02Rik	T	C	7: 13,261,610	M207V	probably benign	Het
Adcy10	T	A	1: 165,510,337	D173E	probably benign	Het
Ahctf1	T	C	1: 179,777,806	D721G	possibly damaging	Het
Allc	T	C	12: 28,557,357	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,323,041		probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
Brf2	G	T	8: 27,124,593	R30S		Het
Bsn	A	G	9: 108,107,691	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces1d	A	T	8: 93,186,112	S233T	possibly damaging	Het
Chst15	T	A	7: 132,270,150	H134L	probably benign	Het
Col14a1	A	G	15: 55,420,880	T846A	unknown	Het
Cwh43	A	T	5: 73,434,229	D555V	probably damaging	Het
Cyld	C	A	8: 88,705,415	P14T	probably benign	Het
Dctn1	G	A	6: 83,199,756	R1264H	possibly damaging	Het
Dkk3	T	A	7: 112,118,282	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,890,566	H22P	unknown	Het
Fabp4	T	A	3: 10,205,282	T103S	probably benign	Het
Fam129b	A	G	2: 32,919,017	E205G	probably benign	Het
Fam43a	T	C	16: 30,601,288	L230P	probably damaging	Het
Fam46c	A	G	3: 100,473,011	V143A	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fank1	T	A	7: 133,876,764	Y186N	probably damaging	Het
Fbxo8	G	A	8: 56,591,520	R286K	possibly damaging	Het
Fmnl2	G	A	2: 53,107,666		probably null	Het
Gli2	T	A	1: 118,837,971	S817C	probably damaging	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Gm13212	A	T	4: 145,622,977	D328V	possibly damaging	Het
Gm4981	T	G	10: 58,236,326	Q22P	possibly damaging	Het
Gstt2	C	G	10: 75,832,457	A155P	probably benign	Het
Ints9	T	A	14: 65,007,308	M213K	probably benign	Het
Jak1	G	A	4: 101,179,541	R301*	probably null	Het
Kdsr	T	C	1: 106,724,997	T302A	probably benign	Het
Khsrp	T	C	17: 57,024,123	E460G	probably damaging	Het
Larp1b	G	A	3: 41,036,810	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,191,489	K487R	probably damaging	Het
Nwd1	T	A	8: 72,704,952	S1193T	probably damaging	Het
Olfr1122	A	T	2: 87,388,508	T268S	probably benign	Het
Olfr195	T	A	16: 59,149,166	C105*	probably null	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,814,703	H636R	probably damaging	Het
Pdilt	A	G	7: 119,498,070	I266T	probably damaging	Het
Rell2	A	T	18: 37,957,612	Q114L	probably benign	Het
Rpia	T	C	6: 70,771,018	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,579,920		probably null	Het
Samd12	T	C	15: 53,860,249	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,098,689		probably null	Het
Slc6a3	T	A	13: 73,557,081	D230E	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Synpo2l	A	G	14: 20,661,136	V472A	probably benign	Het
Taf6l	A	G	19: 8,773,350	I120T	possibly damaging	Het
Trappc11	T	C	8: 47,516,589	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,199,042	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,254,581	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,715,674	Y212*	probably null	Het
Vps54	T	A	11: 21,300,464		probably benign	Het
Zfp648	T	A	1: 154,204,789	H231Q	probably benign	Het
Zscan4d	T	A	7: 11,162,442	T334S	possibly 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
R6495:Rfc1	UTSW	5	65273815	splice site	probably null
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
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'- TGCTGATAACAGAGGACGAACTC -3'
(R):5'- TGCAGAGCTTCCAAAGAAATCG -3'

Sequencing Primer
(F):5'- CAGAGGACGAACTCAGGCC -3'
(R):5'- GAGCTTCCAAAGAAATCGCCTTATAC -3'

Posted On

2020-07-28