Incidental Mutation 'R5723:Rfc1'
| ID |
452313 |
| 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 |
043341-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65419193-65493013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65434769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 666
(S666G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031092
AA Change: S666G
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031092
Gene: ENSMUSG00000029191
AA Change: S666G
| 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 |
1131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172660
AA Change: S665G
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133457
Gene: ENSMUSG00000029191
AA Change: S665G
| 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
|
626 |
761 |
9.65e-10 |
SMART |
|
Pfam:RFC1
|
898 |
1051 |
5.2e-62 |
PFAM |
|
low complexity region
|
1103 |
1130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172732
AA Change: S665G
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: S665G
| 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: ENSMUST00000172780
AA Change: S679G
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133738
Gene: ENSMUSG00000029191
AA Change: S679G
| 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 null
Transcript: ENSMUST00000203471
AA Change: S666G
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: S666G
| 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
AA Change: S679G
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: S679G
| 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 null
Transcript: ENSMUST00000204965
AA Change: S666G
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: S666G
| 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 |
0.2801 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
| Abcg2 |
C |
T |
6: 58,655,336 (GRCm39) |
Q109* |
probably null |
Het |
| Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
| Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
| Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
| C9 |
T |
A |
15: 6,516,297 (GRCm39) |
Y367N |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
| Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
| Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
| Gramd1a |
A |
T |
7: 30,833,908 (GRCm39) |
W506R |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
| Krt16 |
A |
G |
11: 100,139,272 (GRCm39) |
Y149H |
probably damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
| Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
| Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
| Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
| Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
| Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
| Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
| Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
| Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
| Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,763 (GRCm39) |
|
probably benign |
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 |
|
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'- TGCCCCAGAAGAGTTATGCC -3'
(R):5'- ATCTCTAATGCTGTGGGGAATTAG -3'
Sequencing Primer
(F):5'- GCCAAAGGCCTTTCCTATCTTGATG -3'
(R):5'- AGATTTGTGGCCTTTTGGTATCATAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation