Incidental Mutation 'R6232:Rfc4'
| ID |
504709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfc4
|
| Ensembl Gene |
ENSMUSG00000022881 |
| Gene Name |
replication factor C (activator 1) 4 |
| Synonyms |
A1, RFC37 |
| MMRRC Submission |
044360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22932698-22946480 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 22932840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023598]
[ENSMUST00000023599]
[ENSMUST00000077605]
[ENSMUST00000115337]
[ENSMUST00000115338]
[ENSMUST00000133847]
[ENSMUST00000115341]
[ENSMUST00000131871]
[ENSMUST00000123413]
[ENSMUST00000147117]
[ENSMUST00000232287]
[ENSMUST00000187168]
[ENSMUST00000168891]
|
| AlphaFold |
Q99J62 |
| Predicted Effect |
silent
Transcript: ENSMUST00000023598
|
| SMART Domains |
Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
70 |
202 |
5.8e-13 |
SMART |
|
Pfam:Rep_fac_C
|
267 |
356 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023599
|
| SMART Domains |
Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
52 |
250 |
4.62e-58 |
SMART |
|
HELICc
|
287 |
368 |
5.21e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077605
|
| SMART Domains |
Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
52 |
250 |
4.62e-58 |
SMART |
|
HELICc
|
287 |
362 |
1.86e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115337
|
| SMART Domains |
Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1iqpa2
|
29 |
67 |
2e-5 |
SMART |
|
PDB:1SXJ|D
|
39 |
76 |
4e-8 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115338
AA Change: G366S
|
| SMART Domains |
Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: G366S
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
70 |
202 |
5.8e-13 |
SMART |
|
Pfam:Rep_fac_C
|
269 |
344 |
3.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133847
|
| SMART Domains |
Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad17
|
32 |
97 |
3.7e-9 |
PFAM |
|
Pfam:AAA
|
74 |
98 |
2.4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115341
|
| SMART Domains |
Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
53 |
251 |
4.62e-58 |
SMART |
|
HELICc
|
288 |
369 |
5.21e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131871
|
| SMART Domains |
Protein: ENSMUSP00000118141
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3EIQ|D
|
4 |
70 |
2e-33 |
PDB |
|
Blast:DEXDc
|
17 |
73 |
3e-25 |
BLAST |
|
SCOP:d1qdea_
|
25 |
71 |
2e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123413
|
| SMART Domains |
Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
52 |
250 |
4.62e-58 |
SMART |
|
HELICc
|
287 |
362 |
1.86e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147117
|
| SMART Domains |
Protein: ENSMUSP00000121745
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3EIQ|D
|
4 |
69 |
4e-33 |
PDB |
|
Blast:DEXDc
|
16 |
72 |
3e-25 |
BLAST |
|
SCOP:d1qdea_
|
24 |
70 |
2e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157310
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187168
|
| SMART Domains |
Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
52 |
250 |
4.62e-58 |
SMART |
|
HELICc
|
287 |
362 |
1.86e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168891
|
| SMART Domains |
Protein: ENSMUSP00000127030
Gene: ENSMUSG00000022884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
1 |
155 |
1.92e-14 |
SMART |
|
HELICc
|
192 |
273 |
5.21e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142031
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
94% (64/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,268,933 (GRCm39) |
V198A |
possibly damaging |
Het |
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,609,193 (GRCm39) |
M805L |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,620,712 (GRCm39) |
S630G |
probably damaging |
Het |
| Bcl3 |
T |
A |
7: 19,546,409 (GRCm39) |
N142I |
probably damaging |
Het |
| Cfap210 |
C |
T |
2: 69,602,398 (GRCm39) |
E338K |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,085,431 (GRCm39) |
D238E |
probably benign |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,427 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dst |
T |
A |
1: 34,227,253 (GRCm39) |
D1290E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,075,235 (GRCm39) |
I583T |
probably benign |
Het |
| Eif1ad13 |
A |
T |
12: 87,762,351 (GRCm39) |
R24* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,815,516 (GRCm39) |
D249V |
probably damaging |
Het |
| Fbxo30 |
A |
T |
10: 11,165,602 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Fibin |
G |
T |
2: 110,193,041 (GRCm39) |
H34N |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,161,632 (GRCm39) |
I319V |
probably benign |
Het |
| Gfm1 |
G |
T |
3: 67,375,215 (GRCm39) |
L559F |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,821,859 (GRCm39) |
L231Q |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,638 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,183,657 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,813 (GRCm39) |
Q281R |
probably damaging |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,486,345 (GRCm39) |
R38Q |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,671,588 (GRCm39) |
|
probably null |
Het |
| Map3k12 |
A |
G |
15: 102,412,081 (GRCm39) |
S328P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,356 (GRCm39) |
V46A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,568,294 (GRCm39) |
N1408K |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,226,753 (GRCm39) |
Q366L |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,467,802 (GRCm39) |
V462A |
probably damaging |
Het |
| Nradd |
G |
T |
9: 110,450,655 (GRCm39) |
T174N |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,138,963 (GRCm39) |
S12P |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,943,337 (GRCm39) |
E4832* |
probably null |
Het |
| Opn3 |
G |
A |
1: 175,490,669 (GRCm39) |
R331W |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,761 (GRCm39) |
C127S |
probably damaging |
Het |
| Or2w3 |
T |
A |
11: 58,556,757 (GRCm39) |
V124E |
possibly damaging |
Het |
| Or4a66 |
G |
T |
2: 88,531,161 (GRCm39) |
H171N |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,389,661 (GRCm39) |
H262L |
probably damaging |
Het |
| Or5b120 |
G |
A |
19: 13,480,427 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,408,305 (GRCm39) |
I13V |
probably benign |
Het |
| Phip |
A |
G |
9: 82,785,234 (GRCm39) |
V827A |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,607,414 (GRCm39) |
R1264W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,424,014 (GRCm39) |
I529S |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,814,599 (GRCm39) |
I241F |
probably benign |
Het |
| Pla2g4f |
G |
T |
2: 120,132,702 (GRCm39) |
D711E |
possibly damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,266 (GRCm39) |
|
probably null |
Het |
| Pold2 |
T |
C |
11: 5,823,691 (GRCm39) |
S287G |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,567 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
T |
C |
13: 27,759,557 (GRCm39) |
E160G |
possibly damaging |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph14 |
G |
A |
10: 74,797,520 (GRCm39) |
R156W |
probably benign |
Het |
| Sec61a1 |
T |
C |
6: 88,482,150 (GRCm39) |
Y457C |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,704,861 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,244,333 (GRCm39) |
E234G |
unknown |
Het |
| Sphkap |
T |
A |
1: 83,258,200 (GRCm39) |
E181V |
probably damaging |
Het |
| Stau2 |
C |
T |
1: 16,445,035 (GRCm39) |
A298T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,990,796 (GRCm39) |
I661V |
probably benign |
Het |
| Thoc6 |
A |
C |
17: 23,889,295 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
A |
11: 73,141,636 (GRCm39) |
M553K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,579 (GRCm39) |
I11760V |
probably benign |
Het |
| Vmn1r61 |
G |
A |
7: 5,613,850 (GRCm39) |
H155Y |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,153,214 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,498 (GRCm39) |
I75T |
possibly damaging |
Het |
| Wwp2 |
C |
A |
8: 108,232,977 (GRCm39) |
T205K |
probably benign |
Het |
| Zfp1003 |
A |
T |
2: 177,546,195 (GRCm39) |
T40S |
probably benign |
Het |
| Zfp747 |
C |
T |
7: 126,973,306 (GRCm39) |
G288D |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
| Zfp953 |
G |
A |
13: 67,491,161 (GRCm39) |
L264F |
possibly damaging |
Het |
|
| Other mutations in Rfc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Rfc4
|
APN |
16 |
22,934,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01625:Rfc4
|
APN |
16 |
22,934,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Rfc4
|
APN |
16 |
22,933,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02693:Rfc4
|
APN |
16 |
22,932,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rifraf
|
UTSW |
16 |
22,932,823 (GRCm39) |
makesense |
probably null |
|
|
R0094:Rfc4
|
UTSW |
16 |
22,934,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0230:Rfc4
|
UTSW |
16 |
22,932,849 (GRCm39) |
nonsense |
probably null |
|
|
R1493:Rfc4
|
UTSW |
16 |
22,936,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Rfc4
|
UTSW |
16 |
22,932,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2119:Rfc4
|
UTSW |
16 |
22,943,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Rfc4
|
UTSW |
16 |
22,932,902 (GRCm39) |
unclassified |
probably benign |
|
|
R4575:Rfc4
|
UTSW |
16 |
22,933,179 (GRCm39) |
unclassified |
probably benign |
|
|
R5097:Rfc4
|
UTSW |
16 |
22,933,046 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5495:Rfc4
|
UTSW |
16 |
22,941,004 (GRCm39) |
intron |
probably benign |
|
|
R6118:Rfc4
|
UTSW |
16 |
22,939,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Rfc4
|
UTSW |
16 |
22,933,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Rfc4
|
UTSW |
16 |
22,936,816 (GRCm39) |
splice site |
probably null |
|
|
R6310:Rfc4
|
UTSW |
16 |
22,933,459 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6409:Rfc4
|
UTSW |
16 |
22,932,823 (GRCm39) |
makesense |
probably null |
|
|
R6411:Rfc4
|
UTSW |
16 |
22,932,823 (GRCm39) |
makesense |
probably null |
|
|
R7161:Rfc4
|
UTSW |
16 |
22,934,183 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7202:Rfc4
|
UTSW |
16 |
22,946,359 (GRCm39) |
start gained |
probably benign |
|
|
R7693:Rfc4
|
UTSW |
16 |
22,946,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Rfc4
|
UTSW |
16 |
22,934,135 (GRCm39) |
missense |
probably benign |
0.34 |
|
RF010:Rfc4
|
UTSW |
16 |
22,946,232 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2018-02-28 |
Incidental Mutation