Incidental Mutation 'R6118:Rfc4'
| ID |
485227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfc4
|
| Ensembl Gene |
ENSMUSG00000022881 |
| Gene Name |
replication factor C (activator 1) 4 |
| Synonyms |
A1, RFC37 |
| MMRRC Submission |
044267-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6118 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22932698-22946480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22939693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 86
(S86T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023598]
[ENSMUST00000115337]
[ENSMUST00000115338]
[ENSMUST00000133847]
|
| AlphaFold |
Q99J62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023598
AA Change: S86T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: S86T
| 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: 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 damaging
Transcript: ENSMUST00000115338
AA Change: S86T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: S86T
| 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 damaging
Transcript: ENSMUST00000133847
AA Change: S86T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: S86T
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,307,035 (GRCm39) |
K316N |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,242,228 (GRCm39) |
V609E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,830,231 (GRCm39) |
I71V |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,097,060 (GRCm39) |
D351V |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,713 (GRCm39) |
V12A |
possibly damaging |
Het |
| Atad1 |
C |
T |
19: 32,664,697 (GRCm39) |
R239H |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,166,094 (GRCm39) |
T330A |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,362,600 (GRCm39) |
I636N |
probably damaging |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,595 (GRCm39) |
D84G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,654 (GRCm39) |
V215A |
possibly damaging |
Het |
| Chtf18 |
C |
T |
17: 25,938,133 (GRCm39) |
D967N |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,170,011 (GRCm39) |
I1159K |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,448 (GRCm39) |
D67G |
unknown |
Het |
| Csde1 |
T |
A |
3: 102,962,070 (GRCm39) |
V627E |
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,364,397 (GRCm39) |
E969K |
probably benign |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,736,459 (GRCm39) |
R474Q |
probably damaging |
Het |
| H2bc18 |
T |
A |
3: 96,177,267 (GRCm39) |
V67E |
probably damaging |
Het |
| Hap1 |
G |
T |
11: 100,246,620 (GRCm39) |
T95N |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,075,791 (GRCm39) |
K1886R |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,503,717 (GRCm39) |
D1007G |
probably damaging |
Het |
| Mcm2 |
C |
T |
6: 88,864,818 (GRCm39) |
A553T |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,509,302 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,468,722 (GRCm39) |
|
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,462 (GRCm39) |
Y217* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,758 (GRCm39) |
H138L |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,745,614 (GRCm39) |
S180P |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,135 (GRCm39) |
S665P |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,587,962 (GRCm39) |
N277K |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,807,575 (GRCm39) |
V865F |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,977,019 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,023,669 (GRCm39) |
Y249C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,603,236 (GRCm39) |
T206A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tbc1d1 |
C |
T |
5: 64,441,380 (GRCm39) |
L655F |
probably damaging |
Het |
| Tpp2 |
A |
T |
1: 43,979,306 (GRCm39) |
I68F |
probably damaging |
Het |
| Trim30c |
G |
T |
7: 104,031,288 (GRCm39) |
T509K |
probably benign |
Het |
| Zfp827 |
G |
T |
8: 79,803,067 (GRCm39) |
K546N |
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 |
|
|
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'- GCACCAAAATGCTGTGTGC -3'
(R):5'- AATCTTTAGACGTGTGCATTCTC -3'
Sequencing Primer
(F):5'- CTCTGGGGTTTCAAAAGCATATGCC -3'
(R):5'- CTTTAGACGTGTGCATTCTCTATTAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation