Mutagenetix > Incidental Mutation

Incidental Mutation 'R2073:Rfc1'

227323

Institutional Source

Beutler Lab

Gene Symbol

Rfc1

Ensembl Gene

ENSMUSG00000029191

Gene Name

replication factor C (activator 1) 1

Synonyms

Recc1, RFC140, 140kDa, Alp145

MMRRC Submission

040078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65419193-65493013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65459282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 225 (D225E)

Ref Sequence

ENSEMBL: ENSMUSP00000145385 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172732
AA Change: D211E

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: D211E

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 damaging
Transcript: ENSMUST00000172780
AA Change: D225E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133738
Gene: ENSMUSG00000029191
AA Change: D225E

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 damaging
Transcript: ENSMUST00000203471
AA Change: D211E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: D211E

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 damaging
Transcript: ENSMUST00000203581
AA Change: D225E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: D225E

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 damaging
Transcript: ENSMUST00000204965
AA Change: D211E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: D211E

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	C	7: 130,959,242 (GRCm39)	R153G	probably benign	Het
5730596B20Rik	C	A	6: 52,155,962 (GRCm39)	Y9*	probably null	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Acot3	A	G	12: 84,100,230 (GRCm39)	H2R	possibly damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,726,698 (GRCm39)	N73S	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ank	T	C	15: 27,565,108 (GRCm39)	S270P	probably benign	Het
Ankle1	G	A	8: 71,861,973 (GRCm39)	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,599,713 (GRCm39)	H19Y	possibly damaging	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Apaf1	G	T	10: 90,867,556 (GRCm39)	S763*	probably null	Het
Apba3	A	G	10: 81,105,128 (GRCm39)	T134A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bod1l	C	T	5: 41,976,532 (GRCm39)	S1594N	probably benign	Het
C7	T	C	15: 5,019,910 (GRCm39)	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,212,730 (GRCm39)	I11F	possibly damaging	Het
Cideb	T	C	14: 55,992,617 (GRCm39)	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,612,547 (GRCm39)	L862P	possibly damaging	Het
Coch	A	T	12: 51,649,472 (GRCm39)	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,132,639 (GRCm39)	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dgkg	A	G	16: 22,384,067 (GRCm39)	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,089,159 (GRCm39)	H252Y	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnaaf6rt	A	G	1: 31,262,077 (GRCm39)	S20G	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,581,026 (GRCm39)	I251N	probably damaging	Het
Eml5	A	G	12: 98,768,705 (GRCm39)	S1457P	probably damaging	Het
Fam114a1	T	A	5: 65,153,247 (GRCm39)		probably null	Het
Fcho1	A	T	8: 72,163,133 (GRCm39)	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,371,942 (GRCm39)	C111R	unknown	Het
H2-Q4	T	A	17: 35,599,378 (GRCm39)	S154T	possibly damaging	Het
Hhat	A	G	1: 192,409,687 (GRCm39)	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,363,068 (GRCm39)	D319V	probably damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Map2k4	A	C	11: 65,584,282 (GRCm39)	F334V	probably damaging	Het
Mmp19	G	A	10: 128,630,848 (GRCm39)	R156H	probably damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,171,948 (GRCm39)	H541N	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or5b122	A	T	19: 13,562,965 (GRCm39)	Q99L	probably damaging	Het
Pak6	A	C	2: 118,519,332 (GRCm39)	N17T	probably damaging	Het
Pcnt	T	A	10: 76,216,214 (GRCm39)	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf21a	A	G	2: 92,178,381 (GRCm39)	D357G	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,768,066 (GRCm39)	N335D	probably benign	Het
Pole	C	A	5: 110,473,417 (GRCm39)	T1737N	probably damaging	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Pramel6	G	A	2: 87,339,088 (GRCm39)	S96N	probably damaging	Het
Prdm14	A	C	1: 13,195,954 (GRCm39)	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Setd6	G	A	8: 96,443,416 (GRCm39)	V60M	probably damaging	Het
Sgk3	A	G	1: 9,961,649 (GRCm39)	I432V	probably benign	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,635,964 (GRCm39)	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,774,956 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Smg6	C	G	11: 74,821,120 (GRCm39)	P464A	probably damaging	Het
Sox11	T	C	12: 27,392,278 (GRCm39)	T44A	possibly damaging	Het
Spata22	A	G	11: 73,227,052 (GRCm39)	R89G	possibly damaging	Het
Spmip6	A	G	4: 41,507,519 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syne2	A	G	12: 76,062,353 (GRCm39)	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,934,863 (GRCm39)	S1370P	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Trib1	T	A	15: 59,526,189 (GRCm39)	I253N	probably damaging	Het
Triobp	G	T	15: 78,858,095 (GRCm39)	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,853,406 (GRCm39)	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,760,749 (GRCm39)	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,784,974 (GRCm39)	K15N	probably benign	Het
Wnt9a	A	G	11: 59,222,055 (GRCm39)	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181 (GRCm39)	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp715	T	A	7: 42,960,544 (GRCm39)	T16S	probably benign	Het
Zfp932	A	G	5: 110,157,684 (GRCm39)	T461A	possibly damaging	Het
Zscan29	A	T	2: 120,991,336 (GRCm39)	C817*	probably null	Het

Other mutations in Rfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Rfc1	APN	5	65,453,352 (GRCm39)	missense	probably benign	0.00
IGL00909:Rfc1	APN	5	65,437,042 (GRCm39)	missense	probably benign	0.00
IGL01791:Rfc1	APN	5	65,420,488 (GRCm39)	missense	probably benign	0.00
IGL01884:Rfc1	APN	5	65,431,803 (GRCm39)	missense	possibly damaging	0.94
IGL02737:Rfc1	APN	5	65,468,506 (GRCm39)	missense	possibly damaging	0.82
Disturbing	UTSW	5	65,423,505 (GRCm39)	missense	probably damaging	1.00
P0038:Rfc1	UTSW	5	65,445,304 (GRCm39)	missense	probably damaging	1.00
R0317:Rfc1	UTSW	5	65,453,395 (GRCm39)	splice site	probably null
R0452:Rfc1	UTSW	5	65,421,640 (GRCm39)	missense	probably benign	0.01
R0699:Rfc1	UTSW	5	65,476,742 (GRCm39)	splice site	probably null
R0945:Rfc1	UTSW	5	65,436,052 (GRCm39)	critical splice donor site	probably null
R1192:Rfc1	UTSW	5	65,451,254 (GRCm39)	missense	probably benign	0.03
R1341:Rfc1	UTSW	5	65,448,537 (GRCm39)	missense	probably damaging	1.00
R1425:Rfc1	UTSW	5	65,476,861 (GRCm39)	missense	probably damaging	1.00
R1551:Rfc1	UTSW	5	65,434,706 (GRCm39)	missense	probably damaging	0.99
R1800:Rfc1	UTSW	5	65,421,722 (GRCm39)	missense	probably damaging	1.00
R1969:Rfc1	UTSW	5	65,476,867 (GRCm39)	missense	probably damaging	1.00
R2006:Rfc1	UTSW	5	65,468,397 (GRCm39)	nonsense	probably null
R2026:Rfc1	UTSW	5	65,445,372 (GRCm39)	missense	probably damaging	1.00
R2137:Rfc1	UTSW	5	65,468,382 (GRCm39)	critical splice donor site	probably null
R2330:Rfc1	UTSW	5	65,470,312 (GRCm39)	missense	possibly damaging	0.94
R3774:Rfc1	UTSW	5	65,421,749 (GRCm39)	missense	probably damaging	1.00
R3787:Rfc1	UTSW	5	65,453,357 (GRCm39)	missense	probably benign	0.00
R4920:Rfc1	UTSW	5	65,445,271 (GRCm39)	missense	probably damaging	1.00
R5055:Rfc1	UTSW	5	65,423,505 (GRCm39)	missense	probably damaging	1.00
R5308:Rfc1	UTSW	5	65,436,804 (GRCm39)	missense	probably damaging	0.99
R5723:Rfc1	UTSW	5	65,434,769 (GRCm39)	missense	probably null	0.78
R5729:Rfc1	UTSW	5	65,434,795 (GRCm39)	missense	probably damaging	1.00
R5844:Rfc1	UTSW	5	65,451,130 (GRCm39)	missense	probably benign	0.19
R6045:Rfc1	UTSW	5	65,436,892 (GRCm39)	missense	probably damaging	1.00
R6484:Rfc1	UTSW	5	65,451,020 (GRCm39)	missense	probably benign	0.01
R6495:Rfc1	UTSW	5	65,431,158 (GRCm39)	splice site	probably null
R6531:Rfc1	UTSW	5	65,470,322 (GRCm39)	missense	possibly damaging	0.92
R6717:Rfc1	UTSW	5	65,470,304 (GRCm39)	missense	probably damaging	0.97
R6717:Rfc1	UTSW	5	65,459,347 (GRCm39)	nonsense	probably null
R6845:Rfc1	UTSW	5	65,468,459 (GRCm39)	missense	possibly damaging	0.53
R6880:Rfc1	UTSW	5	65,434,729 (GRCm39)	missense	probably benign	0.14
R7329:Rfc1	UTSW	5	65,420,478 (GRCm39)	missense	unknown
R7331:Rfc1	UTSW	5	65,468,387 (GRCm39)	missense	probably damaging	1.00
R7466:Rfc1	UTSW	5	65,432,769 (GRCm39)	missense	probably damaging	1.00
R7497:Rfc1	UTSW	5	65,436,841 (GRCm39)	missense	probably damaging	1.00
R7588:Rfc1	UTSW	5	65,429,850 (GRCm39)	missense	probably damaging	1.00
R8020:Rfc1	UTSW	5	65,429,521 (GRCm39)	missense	probably damaging	1.00
R8056:Rfc1	UTSW	5	65,451,436 (GRCm39)	intron	probably benign
R8282:Rfc1	UTSW	5	65,426,289 (GRCm39)	critical splice donor site	probably null
R8316:Rfc1	UTSW	5	65,436,077 (GRCm39)	missense	probably benign	0.05
R8320:Rfc1	UTSW	5	65,460,379 (GRCm39)	nonsense	probably null
R8865:Rfc1	UTSW	5	65,436,135 (GRCm39)	missense	possibly damaging	0.89
R8968:Rfc1	UTSW	5	65,432,778 (GRCm39)	missense	probably benign	0.03
R8997:Rfc1	UTSW	5	65,433,064 (GRCm39)	missense	probably damaging	1.00
R9454:Rfc1	UTSW	5	65,431,774 (GRCm39)	missense
R9476:Rfc1	UTSW	5	65,437,142 (GRCm39)	missense	probably damaging	0.99
R9631:Rfc1	UTSW	5	65,429,851 (GRCm39)	missense	probably damaging	1.00
R9758:Rfc1	UTSW	5	65,459,391 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTGGATGGACACACATAC -3'
(R):5'- GCCACAAACGACTTTGGGTC -3'

Sequencing Primer
(F):5'- TGGATGGACACACATACACAGAGAC -3'
(R):5'- ATGGATTGTGACCTATCTCTCAG -3'

Posted On

2014-09-17