Incidental Mutation 'R0230:Rfc4'
ID |
34084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfc4
|
Ensembl Gene |
ENSMUSG00000022881 |
Gene Name |
replication factor C (activator 1) 4 |
Synonyms |
A1, RFC37 |
MMRRC Submission |
038473-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R0230 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22932698-22946480 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 22932849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 363
(Q363*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023598]
[ENSMUST00000023599]
[ENSMUST00000077605]
[ENSMUST00000115338]
[ENSMUST00000115337]
[ENSMUST00000115341]
[ENSMUST00000123413]
[ENSMUST00000131871]
[ENSMUST00000133847]
[ENSMUST00000168891]
[ENSMUST00000147117]
[ENSMUST00000187168]
[ENSMUST00000232287]
|
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 null
Transcript: ENSMUST00000115338
AA Change: Q363*
|
SMART Domains |
Protein: ENSMUSP00000110995 Gene: ENSMUSG00000022881 AA Change: Q363*
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 |
noncoding transcript
Transcript: ENSMUST00000130775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125553
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130113
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130483
|
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 |
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: 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 |
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 |
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: ENSMUST00000197708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142031
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135020
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149328
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157310
|
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 |
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 |
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: ENSMUST00000232287
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
Validation Efficiency |
100% (83/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amy1 |
T |
C |
3: 113,352,079 (GRCm39) |
D371G |
probably benign |
Het |
Asrgl1 |
T |
A |
19: 9,095,883 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,585,383 (GRCm39) |
|
probably benign |
Het |
B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
Bbof1 |
A |
G |
12: 84,471,978 (GRCm39) |
H74R |
probably damaging |
Het |
Bpifb9b |
C |
T |
2: 154,158,995 (GRCm39) |
T504M |
probably damaging |
Het |
Cdk12 |
T |
G |
11: 98,094,817 (GRCm39) |
S208R |
probably damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,368,576 (GRCm39) |
L81P |
probably damaging |
Het |
Chrd |
T |
C |
16: 20,552,025 (GRCm39) |
L43P |
probably benign |
Het |
Col6a4 |
A |
C |
9: 105,949,565 (GRCm39) |
M690R |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,042,903 (GRCm39) |
R418W |
probably damaging |
Het |
Dars2 |
C |
T |
1: 160,890,357 (GRCm39) |
V162M |
probably benign |
Het |
Dixdc1 |
C |
T |
9: 50,606,807 (GRCm39) |
V270M |
possibly damaging |
Het |
Dnah11 |
C |
A |
12: 117,946,791 (GRCm39) |
E1194* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,258,508 (GRCm39) |
S1900P |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,746,141 (GRCm39) |
E3991K |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,381,681 (GRCm39) |
I2210F |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,886,949 (GRCm39) |
S556G |
probably damaging |
Het |
Enam |
G |
A |
5: 88,637,514 (GRCm39) |
|
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,440,168 (GRCm39) |
D579G |
probably damaging |
Het |
Ephb3 |
A |
T |
16: 21,039,525 (GRCm39) |
I426F |
probably damaging |
Het |
Fam135b |
T |
G |
15: 71,317,886 (GRCm39) |
I1359L |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,250 (GRCm39) |
H2012Q |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,128 (GRCm39) |
S26P |
probably benign |
Het |
Gm17622 |
T |
A |
13: 96,627,594 (GRCm39) |
|
probably null |
Het |
Gpat2 |
G |
A |
2: 127,277,765 (GRCm39) |
V764I |
possibly damaging |
Het |
Gpx4 |
G |
A |
10: 79,890,838 (GRCm39) |
A81T |
probably benign |
Het |
Gss |
C |
A |
2: 155,420,326 (GRCm39) |
R83L |
probably damaging |
Het |
Hcls1 |
C |
A |
16: 36,758,216 (GRCm39) |
Q36K |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,463,336 (GRCm39) |
V438A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,401,005 (GRCm39) |
F184S |
probably damaging |
Het |
Katnal1 |
T |
A |
5: 148,855,460 (GRCm39) |
D90V |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,174,083 (GRCm39) |
D30G |
probably benign |
Het |
Kyat1 |
T |
C |
2: 30,084,087 (GRCm39) |
E11G |
probably benign |
Het |
Lefty1 |
T |
A |
1: 180,764,579 (GRCm39) |
V168E |
probably damaging |
Het |
Map2k6 |
C |
T |
11: 110,387,281 (GRCm39) |
P218S |
probably damaging |
Het |
Mlkl |
C |
G |
8: 112,041,694 (GRCm39) |
K415N |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,211,390 (GRCm39) |
M1593K |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,784,159 (GRCm39) |
C186S |
possibly damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nkiras1 |
A |
G |
14: 18,280,185 (GRCm38) |
N192S |
probably benign |
Het |
Or1j17 |
G |
A |
2: 36,578,628 (GRCm39) |
V205M |
probably benign |
Het |
Or2n1 |
A |
G |
17: 38,486,841 (GRCm39) |
I289V |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or8u9 |
T |
C |
2: 86,001,886 (GRCm39) |
I92V |
probably benign |
Het |
Pdcd6ip |
A |
G |
9: 113,514,361 (GRCm39) |
|
probably benign |
Het |
Pde4b |
T |
C |
4: 102,454,707 (GRCm39) |
Y186H |
probably benign |
Het |
Pex7 |
A |
G |
10: 19,780,331 (GRCm39) |
V101A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,635,209 (GRCm39) |
V1339A |
probably benign |
Het |
Proser1 |
A |
G |
3: 53,386,383 (GRCm39) |
N755S |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,674,997 (GRCm39) |
D658G |
probably damaging |
Het |
Rassf8 |
A |
C |
6: 145,765,700 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,552,282 (GRCm39) |
N673S |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,556,628 (GRCm39) |
E319G |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,345,984 (GRCm39) |
|
probably benign |
Het |
Scube2 |
C |
T |
7: 109,423,971 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slc6a13 |
A |
G |
6: 121,301,262 (GRCm39) |
N184D |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,182,054 (GRCm39) |
|
probably benign |
Het |
Slf1 |
T |
A |
13: 77,260,867 (GRCm39) |
|
probably benign |
Het |
Smarca4 |
G |
A |
9: 21,612,168 (GRCm39) |
V1518I |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 179,250,993 (GRCm39) |
|
probably benign |
Het |
Sox5 |
A |
G |
6: 144,155,064 (GRCm39) |
F11L |
probably benign |
Het |
Spag17 |
T |
C |
3: 100,014,143 (GRCm39) |
S2139P |
probably benign |
Het |
Spice1 |
A |
T |
16: 44,185,939 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,900,704 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,066,286 (GRCm39) |
N571K |
probably damaging |
Het |
Tbl3 |
A |
G |
17: 24,920,307 (GRCm39) |
L670P |
probably damaging |
Het |
Tmem45a2 |
A |
G |
16: 56,867,359 (GRCm39) |
V114A |
possibly damaging |
Het |
Tmigd3 |
A |
G |
3: 105,826,053 (GRCm39) |
N132D |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,567,778 (GRCm39) |
D19378G |
probably damaging |
Het |
Ugcg |
C |
A |
4: 59,189,739 (GRCm39) |
Y32* |
probably null |
Het |
Ush2a |
C |
T |
1: 188,582,301 (GRCm39) |
P3788L |
probably damaging |
Het |
Usp22 |
T |
A |
11: 61,050,023 (GRCm39) |
|
probably benign |
Het |
Xaf1 |
T |
C |
11: 72,197,381 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
C |
T |
1: 139,374,673 (GRCm39) |
T711I |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,442,180 (GRCm39) |
T132A |
possibly damaging |
Het |
Zfp64 |
T |
G |
2: 168,754,150 (GRCm39) |
|
probably benign |
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 |
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 |
R6232:Rfc4
|
UTSW |
16 |
22,932,840 (GRCm39) |
unclassified |
probably benign |
|
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 |
PCR Primer
(F):5'- TGCTAAGCCTCAGCAAGCAATCATC -3'
(R):5'- GTAGTCCCAGCACTTAACAAGGCAG -3'
Sequencing Primer
(F):5'- CTAGGTAGGGTTAAACCCCCAG -3'
(R):5'- GACATGCAGCTACTCAGCTTG -3'
|
Posted On |
2013-05-09 |