Incidental Mutation 'R5055:Rfc1'
| ID |
390763 |
| 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 |
042645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65419193-65493013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65423505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1034
(N1034K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000172732
AA Change: N1020K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134444
Gene: ENSMUSG00000029191
AA Change: N1020K
| 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 |
noncoding transcript
Transcript: ENSMUST00000174566
AA Change: N569K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203471
AA Change: N1021K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144954
Gene: ENSMUSG00000029191
AA Change: N1021K
| 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: N1034K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145385
Gene: ENSMUSG00000029191
AA Change: N1034K
| 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: ENSMUST00000203596
AA Change: N106K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145181
Gene: ENSMUSG00000029191
AA Change: N106K
| 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 damaging
Transcript: ENSMUST00000204965
AA Change: N1021K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144980
Gene: ENSMUSG00000029191
AA Change: N1021K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (84/86) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
G |
A |
11: 46,013,996 (GRCm39) |
V329I |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,398 (GRCm39) |
A541E |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,063,325 (GRCm39) |
I263F |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,930,519 (GRCm39) |
|
probably null |
Het |
| Bccip |
A |
G |
7: 133,316,652 (GRCm39) |
T91A |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,163 (GRCm39) |
F355I |
probably damaging |
Het |
| Bpifa2 |
A |
T |
2: 153,855,630 (GRCm39) |
D185V |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,399,526 (GRCm39) |
V89D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,241,106 (GRCm39) |
M421K |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,256 (GRCm39) |
L800M |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,077,949 (GRCm39) |
D137G |
possibly damaging |
Het |
| Crtap |
A |
G |
9: 114,219,208 (GRCm39) |
Y154H |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,499,303 (GRCm39) |
Q213L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,164 (GRCm39) |
Y296C |
probably damaging |
Het |
| Daxx |
G |
T |
17: 34,131,134 (GRCm39) |
V354F |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,411,599 (GRCm39) |
I341T |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,036,380 (GRCm39) |
D272G |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,553,022 (GRCm39) |
G82W |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,739,174 (GRCm39) |
C158Y |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,614,630 (GRCm39) |
|
probably benign |
Het |
| Gars1 |
G |
A |
6: 55,045,077 (GRCm39) |
R454H |
probably damaging |
Het |
| Ghsr |
T |
C |
3: 27,426,421 (GRCm39) |
V159A |
probably benign |
Het |
| Glp1r |
A |
T |
17: 31,137,861 (GRCm39) |
Q97H |
probably benign |
Het |
| Gm27047 |
T |
C |
6: 130,606,909 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv3-3 |
A |
C |
6: 70,664,223 (GRCm39) |
I22L |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,636,824 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
C |
A |
1: 135,330,097 (GRCm39) |
E448* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,229,003 (GRCm39) |
I400N |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,567,062 (GRCm39) |
H40Q |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kcnq2 |
G |
T |
2: 180,728,554 (GRCm39) |
|
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,118,439 (GRCm39) |
T53A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,729,649 (GRCm39) |
|
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,802 (GRCm39) |
R331C |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,878,332 (GRCm39) |
D289E |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,773 (GRCm39) |
M43K |
possibly damaging |
Het |
| Msr1 |
T |
G |
8: 40,076,997 (GRCm39) |
R138S |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,723 (GRCm39) |
A1711V |
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,023,083 (GRCm39) |
|
probably benign |
Het |
| Nampt |
A |
T |
12: 32,883,120 (GRCm39) |
N102Y |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,371,460 (GRCm39) |
I92V |
probably benign |
Het |
| Nes |
A |
G |
3: 87,884,521 (GRCm39) |
N883D |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,312,463 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
A |
13: 100,675,930 (GRCm39) |
T188S |
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,937 (GRCm39) |
M250K |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,585 (GRCm39) |
F147S |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,664,733 (GRCm39) |
Q1305L |
probably benign |
Het |
| Pde3a |
C |
T |
6: 141,433,682 (GRCm39) |
Q855* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,052,311 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,930,242 (GRCm39) |
M65V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,182,201 (GRCm39) |
S377P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,548,703 (GRCm39) |
T408S |
probably benign |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,152 (GRCm39) |
D789G |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,419,719 (GRCm39) |
M897V |
possibly damaging |
Het |
| Prss57 |
A |
G |
10: 79,620,178 (GRCm39) |
|
probably null |
Het |
| Psd |
G |
T |
19: 46,310,907 (GRCm39) |
L381I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,370,540 (GRCm39) |
D2050E |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,504 (GRCm39) |
G1829S |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,767,003 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Slc28a1 |
A |
G |
7: 80,818,796 (GRCm39) |
N583S |
possibly damaging |
Het |
| Slc35e3 |
C |
T |
10: 117,580,884 (GRCm39) |
G140D |
probably damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,347 (GRCm39) |
|
probably null |
Het |
| Sptlc1 |
A |
G |
13: 53,496,218 (GRCm39) |
S376P |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,441,729 (GRCm39) |
C1913Y |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,845 (GRCm39) |
I337F |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,235 (GRCm39) |
I246F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,183 (GRCm39) |
V983M |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,626,521 (GRCm39) |
M1112K |
probably benign |
Het |
| Tsbp1 |
G |
A |
17: 34,667,770 (GRCm39) |
C154Y |
possibly damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,594 (GRCm39) |
K670I |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,392,771 (GRCm39) |
D257G |
probably damaging |
Het |
| Wdr41 |
T |
A |
13: 95,151,725 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,860 (GRCm39) |
Q668R |
possibly 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 |
|
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'- TGTCCAGGACAGTAGCAAACAC -3'
(R):5'- TGGGAGATAGGGTGCCATTCAC -3'
Sequencing Primer
(F):5'- CAGTAGCAAACACTCGGGG -3'
(R):5'- AGAGACGCACTTGTACGA -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation