Incidental Mutation 'R5495:Rfc4'
| ID |
432310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfc4
|
| Ensembl Gene |
ENSMUSG00000022881 |
| Gene Name |
replication factor C (activator 1) 4 |
| Synonyms |
A1, RFC37 |
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22932698-22946480 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 22941004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023598]
[ENSMUST00000115337]
[ENSMUST00000115338]
[ENSMUST00000133847]
|
| AlphaFold |
Q99J62 |
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000115337
AA Change: D86G
|
| SMART Domains |
Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881
AA Change: D86G
| 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: ENSMUST00000115338
|
| SMART Domains |
Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
| 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 |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
probably 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 |
|
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'- AAAAGCCATGGTTACCTCACTAG -3'
(R):5'- TTCAGTAACCCTGCTGCAG -3'
Sequencing Primer
(F):5'- CTTTAAATCAGCACTTGGGAGGC -3'
(R):5'- ACCTTGGCATAAGCACTGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation