Incidental Mutation 'R7693:Rfc4'
| ID |
593514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfc4
|
| Ensembl Gene |
ENSMUSG00000022881 |
| Gene Name |
replication factor C (activator 1) 4 |
| Synonyms |
A1, RFC37 |
| MMRRC Submission |
045708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R7693 (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 G
at 22946163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 40
(W40R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023598]
[ENSMUST00000115337]
[ENSMUST00000115338]
[ENSMUST00000133847]
|
| AlphaFold |
Q99J62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023598
AA Change: W40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881
AA Change: W40R
| 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 damaging
Transcript: ENSMUST00000115337
AA Change: W40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110994
Gene: ENSMUSG00000022881
AA Change: W40R
| 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: W40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881
AA Change: W40R
| 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: W40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881
AA Change: W40R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
| Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
| Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
| Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
| Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
| Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
| Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
| Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
| Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
| Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
| Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
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 |
|
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 |
|
|
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'- TGTAGGGCTCTAAAACTGTACAC -3'
(R):5'- GAGCTGCCCCATAATGGTTTC -3'
Sequencing Primer
(F):5'- AATTCAACTACTGTATCACTCCAAGG -3'
(R):5'- CTTTTTGTCTTATACCCAGGAGAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation