Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Rfc1'

483761

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

044213-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65419193-65493013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65436892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 596 (I596T)

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

probably damaging
Transcript: ENSMUST00000172732
AA Change: I582T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: I582T

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

possibly damaging
Transcript: ENSMUST00000203471
AA Change: I582T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: I582T

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: I596T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: I596T

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

possibly damaging
Transcript: ENSMUST00000204965
AA Change: I582T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: I582T

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,955,996 (GRCm39)	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,784,694 (GRCm39)		probably benign	Het
Adamts5	T	C	16: 85,696,188 (GRCm39)	D323G	probably damaging	Het
Albfm1	A	T	5: 90,732,848 (GRCm39)	Q553L	possibly damaging	Het
Bicc1	G	A	10: 70,792,911 (GRCm39)	R248*	probably null	Het
Bivm	T	G	1: 44,158,233 (GRCm39)		probably benign	Het
Btnl12	G	T	16: 37,676,384 (GRCm39)	Q128K	probably benign	Het
Ccdc8	A	C	7: 16,729,956 (GRCm39)	T482P	unknown	Het
Ccnb2	T	C	9: 70,326,375 (GRCm39)	I21V	probably benign	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Chd3	A	C	11: 69,242,944 (GRCm39)	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,530,438 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,803,117 (GRCm39)	N1283D	unknown	Het
Cyp39a1	G	T	17: 44,042,882 (GRCm39)	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,574,008 (GRCm39)	I202L	unknown	Het
Defa38	A	T	8: 21,585,248 (GRCm39)	C65S	possibly damaging	Het
Dlgap1	T	C	17: 71,125,093 (GRCm39)	L948P	probably damaging	Het
Dnah3	C	T	7: 119,566,745 (GRCm39)	V2494M	probably damaging	Het
Dysf	T	A	6: 84,091,054 (GRCm39)	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,219,296 (GRCm39)	S36*	probably null	Het
Elmod3	C	T	6: 72,545,851 (GRCm39)	R297H	probably benign	Het
Epas1	C	A	17: 87,116,827 (GRCm39)	R166S	probably damaging	Het
Erv3	A	G	2: 131,697,942 (GRCm39)	L139P	probably damaging	Het
Fryl	A	G	5: 73,275,894 (GRCm39)	V90A	probably damaging	Het
Fxr2	A	G	11: 69,541,877 (GRCm39)	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,470,931 (GRCm39)	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,674,619 (GRCm39)	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,366,269 (GRCm39)	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,062,239 (GRCm39)	I517F	probably damaging	Het
Glb1	T	C	9: 114,267,010 (GRCm39)	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,794,505 (GRCm39)		probably null	Het
Gmps	C	T	3: 63,887,558 (GRCm39)	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068 (GRCm39)	V1465D	probably damaging	Het
Helz2	A	G	2: 180,882,106 (GRCm39)	V229A	probably benign	Het
Hipk1	A	T	3: 103,654,218 (GRCm39)	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,484,909 (GRCm39)	L303V	possibly damaging	Het
Kif22	T	C	7: 126,630,250 (GRCm39)	N429D	probably benign	Het
Ktn1	T	C	14: 47,914,253 (GRCm39)	Y401H	probably damaging	Het
Lars2	T	G	9: 123,201,053 (GRCm39)	I39S	probably damaging	Het
Lipf	C	T	19: 33,944,244 (GRCm39)	A151V	probably damaging	Het
Lrp1	A	T	10: 127,402,469 (GRCm39)	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,591,825 (GRCm39)	V56A	unknown	Het
Lyar	T	A	5: 38,391,352 (GRCm39)	H350Q	probably benign	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
Morc3	A	G	16: 93,671,733 (GRCm39)	D921G	probably damaging	Het
Mpp2	G	T	11: 101,950,180 (GRCm39)	T558K	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Neb	A	C	2: 52,084,437 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,530,962 (GRCm39)	R376*	probably null	Het
Nlrc4	T	G	17: 74,753,954 (GRCm39)	D143A	probably damaging	Het
Nol10	G	T	12: 17,398,479 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,869 (GRCm39)	S122P	probably damaging	Het
Or10j3b	C	T	1: 173,044,067 (GRCm39)	T283I	possibly damaging	Het
Or4f14d	T	G	2: 111,960,881 (GRCm39)	I92L	possibly damaging	Het
Or52h7	C	T	7: 104,213,974 (GRCm39)	T182I	probably benign	Het
Or5an9	C	A	19: 12,187,659 (GRCm39)	A243D	probably damaging	Het
Or5h27	T	A	16: 59,006,454 (GRCm39)	T131S	probably benign	Het
Orm1	T	A	4: 63,262,929 (GRCm39)	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,454,628 (GRCm39)	V336E	probably damaging	Het
Poli	C	T	18: 70,650,540 (GRCm39)	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,472,893 (GRCm39)	E515G	probably benign	Het
Rem2	C	A	14: 54,715,225 (GRCm39)	T134N	probably damaging	Het
Ruvbl2	A	T	7: 45,074,433 (GRCm39)	I202N	probably damaging	Het
S100a6	T	A	3: 90,521,186 (GRCm39)	I38N	probably damaging	Het
Scel	T	C	14: 103,829,649 (GRCm39)	C435R	probably benign	Het
Slc6a13	T	A	6: 121,298,587 (GRCm39)	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,178,555 (GRCm39)	K856*	probably null	Het
Speer4e1	T	G	5: 14,987,195 (GRCm39)	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,806,404 (GRCm39)	C158*	probably null	Het
Tie1	G	A	4: 118,341,888 (GRCm39)	S187L	probably benign	Het
Tmem200a	T	C	10: 25,868,905 (GRCm39)	T455A	probably damaging	Het
Tra2a	A	G	6: 49,229,398 (GRCm39)		probably benign	Het
Tsnaxip1	A	C	8: 106,570,819 (GRCm39)	E615A	probably benign	Het
Tuba3b	T	A	6: 145,566,900 (GRCm39)	N380K	probably damaging	Het
Umod	C	T	7: 119,076,046 (GRCm39)	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,388,305 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,671,462 (GRCm39)	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,935 (GRCm39)	I72N	probably damaging	Het
Wbp11	G	A	6: 136,798,533 (GRCm39)	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,351,770 (GRCm39)	N294K	probably benign	Het
Zfhx4	T	A	3: 5,462,019 (GRCm39)	H1206Q	probably damaging	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
R2073:Rfc1	UTSW	5	65,459,282 (GRCm39)	missense	probably damaging	0.98
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
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'- ATGAACCATGCATGAGCCTTTG -3'
(R):5'- TCCAAATTGGAGCGAACACC -3'

Posted On

2017-07-14