Incidental Mutation 'R3876:Fbxo43'
ID |
276869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo43
|
Ensembl Gene |
ENSMUSG00000048230 |
Gene Name |
F-box protein 43 |
Synonyms |
Emi2, early mitotic inhibitor 2, endogenous meiotic inhibitor 2, XErp1 homolog, 4930533G20Rik |
MMRRC Submission |
041606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R3876 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
36150206-36165030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36152258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 517
(V517A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058643]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058643
AA Change: V517A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054125 Gene: ENSMUSG00000048230 AA Change: V517A
Domain | Start | End | E-Value | Type |
low complexity region
|
88 |
100 |
N/A |
INTRINSIC |
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
Blast:FBOX
|
439 |
479 |
2e-14 |
BLAST |
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
IBR
|
555 |
614 |
1.46e-4 |
SMART |
|
Meta Mutation Damage Score |
0.4965 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
G |
A |
14: 54,828,857 (GRCm39) |
R215* |
probably null |
Het |
Brinp2 |
C |
A |
1: 158,074,416 (GRCm39) |
L568F |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,043,616 (GRCm39) |
Y316C |
probably damaging |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cfap69 |
G |
T |
5: 5,634,645 (GRCm39) |
|
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,951,182 (GRCm39) |
E27G |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,430 (GRCm39) |
V64A |
possibly damaging |
Het |
Crygs |
A |
G |
16: 22,625,262 (GRCm39) |
Y60H |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,281,216 (GRCm39) |
Q611L |
probably damaging |
Het |
Entpd1 |
T |
C |
19: 40,725,264 (GRCm39) |
L450P |
probably damaging |
Het |
Eogt |
G |
A |
6: 97,097,151 (GRCm39) |
S317L |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,657,376 (GRCm39) |
S584T |
probably benign |
Het |
Fam184a |
C |
T |
10: 53,575,157 (GRCm39) |
V151I |
probably damaging |
Het |
Flii |
T |
C |
11: 60,610,698 (GRCm39) |
T533A |
possibly damaging |
Het |
Frmpd1 |
T |
G |
4: 45,284,093 (GRCm39) |
H971Q |
probably benign |
Het |
Gata3 |
A |
T |
2: 9,867,954 (GRCm39) |
N333K |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,815,513 (GRCm39) |
S1525P |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,600,479 (GRCm39) |
I816T |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt34 |
T |
C |
11: 99,931,791 (GRCm39) |
T143A |
probably benign |
Het |
Lipn |
G |
T |
19: 34,046,828 (GRCm39) |
M43I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
Mios |
G |
A |
6: 8,233,189 (GRCm39) |
R779Q |
probably damaging |
Het |
Mme |
A |
T |
3: 63,269,480 (GRCm39) |
|
probably benign |
Het |
Ncstn |
A |
G |
1: 171,897,640 (GRCm39) |
S418P |
probably benign |
Het |
Oprk1 |
T |
A |
1: 5,672,884 (GRCm39) |
C340* |
probably null |
Het |
Or10d1c |
T |
A |
9: 38,894,166 (GRCm39) |
Y58F |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,739,952 (GRCm39) |
T262A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,238,967 (GRCm39) |
V69A |
possibly damaging |
Het |
Or6c210 |
C |
T |
10: 129,496,143 (GRCm39) |
P156L |
probably benign |
Het |
Or6z7 |
G |
A |
7: 6,484,131 (GRCm39) |
A8V |
probably benign |
Het |
Pald1 |
T |
A |
10: 61,183,266 (GRCm39) |
N323Y |
probably damaging |
Het |
Pcdhac1 |
C |
A |
18: 37,224,945 (GRCm39) |
A586E |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,614,897 (GRCm39) |
A185T |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,821,465 (GRCm39) |
H430Y |
probably benign |
Het |
Polr3b |
G |
A |
10: 84,556,382 (GRCm39) |
|
probably null |
Het |
Prl8a6 |
A |
T |
13: 27,617,015 (GRCm39) |
L225* |
probably null |
Het |
Psme4 |
T |
C |
11: 30,806,068 (GRCm39) |
S89P |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,248,113 (GRCm39) |
T250I |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,016,528 (GRCm39) |
K72* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,603,045 (GRCm39) |
I4514F |
probably damaging |
Het |
Septin3 |
A |
T |
15: 82,170,002 (GRCm39) |
D32V |
probably damaging |
Het |
Sfrp2 |
C |
T |
3: 83,674,335 (GRCm39) |
P163S |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,068,745 (GRCm39) |
T298A |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,683,369 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,002,345 (GRCm39) |
M282K |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,561,847 (GRCm39) |
|
probably null |
Het |
Tlr11 |
G |
A |
14: 50,600,611 (GRCm39) |
V866I |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,056,020 (GRCm39) |
|
probably null |
Het |
Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fbxo43 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01445:Fbxo43
|
APN |
15 |
36,151,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Fbxo43
|
APN |
15 |
36,151,957 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02246:Fbxo43
|
APN |
15 |
36,162,842 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02576:Fbxo43
|
APN |
15 |
36,152,321 (GRCm39) |
missense |
probably benign |
0.01 |
FR4304:Fbxo43
|
UTSW |
15 |
36,152,246 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Fbxo43
|
UTSW |
15 |
36,152,243 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Fbxo43
|
UTSW |
15 |
36,152,240 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Fbxo43
|
UTSW |
15 |
36,152,244 (GRCm39) |
nonsense |
probably null |
|
FR4589:Fbxo43
|
UTSW |
15 |
36,152,247 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Fbxo43
|
UTSW |
15 |
36,152,246 (GRCm39) |
small insertion |
probably benign |
|
R0193:Fbxo43
|
UTSW |
15 |
36,162,029 (GRCm39) |
missense |
probably benign |
0.29 |
R0244:Fbxo43
|
UTSW |
15 |
36,161,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Fbxo43
|
UTSW |
15 |
36,152,338 (GRCm39) |
splice site |
probably benign |
|
R0409:Fbxo43
|
UTSW |
15 |
36,162,503 (GRCm39) |
missense |
probably benign |
0.01 |
R0827:Fbxo43
|
UTSW |
15 |
36,163,115 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1562:Fbxo43
|
UTSW |
15 |
36,163,162 (GRCm39) |
missense |
probably damaging |
0.99 |
R1880:Fbxo43
|
UTSW |
15 |
36,162,661 (GRCm39) |
missense |
probably benign |
0.02 |
R2051:Fbxo43
|
UTSW |
15 |
36,162,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R3792:Fbxo43
|
UTSW |
15 |
36,163,005 (GRCm39) |
missense |
probably benign |
0.03 |
R3875:Fbxo43
|
UTSW |
15 |
36,162,249 (GRCm39) |
missense |
probably benign |
|
R5023:Fbxo43
|
UTSW |
15 |
36,163,075 (GRCm39) |
missense |
probably benign |
0.13 |
R5633:Fbxo43
|
UTSW |
15 |
36,162,241 (GRCm39) |
splice site |
probably null |
|
R5997:Fbxo43
|
UTSW |
15 |
36,162,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R6589:Fbxo43
|
UTSW |
15 |
36,162,686 (GRCm39) |
missense |
probably damaging |
0.99 |
R7238:Fbxo43
|
UTSW |
15 |
36,151,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Fbxo43
|
UTSW |
15 |
36,161,997 (GRCm39) |
missense |
probably benign |
|
R7689:Fbxo43
|
UTSW |
15 |
36,163,201 (GRCm39) |
missense |
probably benign |
0.00 |
R7780:Fbxo43
|
UTSW |
15 |
36,162,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R8167:Fbxo43
|
UTSW |
15 |
36,151,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8184:Fbxo43
|
UTSW |
15 |
36,162,485 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8306:Fbxo43
|
UTSW |
15 |
36,162,013 (GRCm39) |
missense |
probably benign |
0.01 |
R8393:Fbxo43
|
UTSW |
15 |
36,162,494 (GRCm39) |
missense |
probably benign |
0.06 |
R9099:Fbxo43
|
UTSW |
15 |
36,162,619 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9658:Fbxo43
|
UTSW |
15 |
36,152,282 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Fbxo43
|
UTSW |
15 |
36,152,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAACAGTGTCCTGGCAACC -3'
(R):5'- CGTAGGGAAAGGTCCTGATG -3'
Sequencing Primer
(F):5'- AGGCACACTCAGTCTTCTAGG -3'
(R):5'- AGGTCCTGATGGTATAAACCTTTCC -3'
|
Posted On |
2015-04-06 |