Incidental Mutation 'R6011:Rfc3'
| ID |
479750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfc3
|
| Ensembl Gene |
ENSMUSG00000033970 |
| Gene Name |
replication factor C (activator 1) 3 |
| Synonyms |
38kDa, 38kDa, 2810416I22Rik, Recc3 |
| MMRRC Submission |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
151566282-151574673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151567184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 291
(I291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038131]
|
| AlphaFold |
Q8R323 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038131
AA Change: I291L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039621
Gene: ENSMUSG00000033970
AA Change: I291L
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
34 |
190 |
1.5e-6 |
SMART |
|
Pfam:Rep_fac_C
|
216 |
338 |
7.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202147
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| 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 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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 |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly damaging |
Het |
|
| Other mutations in Rfc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Rfc3
|
APN |
5 |
151,566,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02429:Rfc3
|
APN |
5 |
151,574,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02588:Rfc3
|
APN |
5 |
151,566,381 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02878:Rfc3
|
APN |
5 |
151,566,379 (GRCm39) |
makesense |
probably null |
|
|
IGL03109:Rfc3
|
APN |
5 |
151,566,559 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0129:Rfc3
|
UTSW |
5 |
151,574,616 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0456:Rfc3
|
UTSW |
5 |
151,570,988 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2015:Rfc3
|
UTSW |
5 |
151,571,003 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2096:Rfc3
|
UTSW |
5 |
151,568,383 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2306:Rfc3
|
UTSW |
5 |
151,567,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Rfc3
|
UTSW |
5 |
151,574,637 (GRCm39) |
start gained |
probably benign |
|
|
R4739:Rfc3
|
UTSW |
5 |
151,568,241 (GRCm39) |
splice site |
probably benign |
|
|
R4906:Rfc3
|
UTSW |
5 |
151,570,960 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4945:Rfc3
|
UTSW |
5 |
151,566,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Rfc3
|
UTSW |
5 |
151,573,444 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5644:Rfc3
|
UTSW |
5 |
151,573,444 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6181:Rfc3
|
UTSW |
5 |
151,570,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Rfc3
|
UTSW |
5 |
151,571,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7509:Rfc3
|
UTSW |
5 |
151,570,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Rfc3
|
UTSW |
5 |
151,574,616 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8346:Rfc3
|
UTSW |
5 |
151,569,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Rfc3
|
UTSW |
5 |
151,568,381 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9140:Rfc3
|
UTSW |
5 |
151,568,141 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9492:Rfc3
|
UTSW |
5 |
151,566,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Rfc3
|
UTSW |
5 |
151,568,327 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGCTGTGCATAACTGGG -3'
(R):5'- TAGAGCACATGTCCAAGACAG -3'
Sequencing Primer
(F):5'- GTGCATAACTGGGTTCCATTATTAC -3'
(R):5'- AAGACAGCTTCTCTCTGCATCAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation