Mutagenetix > Incidental Mutation

Incidental Mutation 'P0038:Rfc1'

7768

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

038287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0038 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65419193-65493013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65445304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 435 (T435A)

Ref Sequence

ENSEMBL: ENSMUSP00000144980 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000172732
AA Change: T435A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: T435A

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: T449A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133738
Gene: ENSMUSG00000029191
AA Change: T449A

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: T435A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: T435A

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: T449A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: T449A

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: T435A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: T435A

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

Meta Mutation Damage Score

0.4239

Coding Region Coverage

1x: 79.6%
3x: 69.7%
10x: 40.2%
20x: 18.1%

Validation Efficiency

86% (80/93)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2b	C	A	12: 5,004,536 (GRCm39)		probably benign	Het
Atmin	T	A	8: 117,683,775 (GRCm39)	C478*	probably null	Het
Cdh13	G	A	8: 119,401,843 (GRCm39)	V82M	probably damaging	Het
Dip2c	A	C	13: 9,697,018 (GRCm39)	T1310P	probably damaging	Het
Eral1	A	T	11: 77,966,847 (GRCm39)	D189E	probably damaging	Het
Fstl5	A	G	3: 76,052,369 (GRCm39)	Y33C	probably damaging	Het
Gjb4	A	T	4: 127,245,293 (GRCm39)	V216D	probably benign	Het
Lars2	T	C	9: 123,206,842 (GRCm39)	V103A	probably damaging	Het
Mfsd12	C	T	10: 81,198,052 (GRCm39)	T311I	probably benign	Het
Mtrex	A	C	13: 113,047,513 (GRCm39)	Y277*	probably null	Het
Paf1	T	C	7: 28,096,350 (GRCm39)		probably null	Het
Siglec1	T	C	2: 130,923,359 (GRCm39)	N462S	probably benign	Het
Tnks1bp1	C	T	2: 84,892,755 (GRCm39)	T232I	probably benign	Het
Trpc6	A	T	9: 8,649,512 (GRCm39)	N574I	possibly damaging	Het
Ttll7	T	C	3: 146,650,939 (GRCm39)	F700L	possibly damaging	Het
Zc3hav1	G	A	6: 38,309,469 (GRCm39)	T451M	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
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
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

Posted On

2012-10-29