Incidental Mutation 'IGL02576:Fbxo43'
| ID |
299220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL02576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
36150206-36165030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36152321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 496
(V496A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058643]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058643
AA Change: V496A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: V496A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,032,678 (GRCm39) |
I232M |
probably benign |
Het |
| Ace |
G |
A |
11: 105,864,937 (GRCm39) |
V537M |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,062,393 (GRCm39) |
E425G |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,271,133 (GRCm39) |
S46N |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,942,617 (GRCm39) |
S1646P |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,448,825 (GRCm39) |
D411G |
possibly damaging |
Het |
| Col20a1 |
C |
T |
2: 180,655,198 (GRCm39) |
Q1152* |
probably null |
Het |
| D130043K22Rik |
A |
C |
13: 25,040,853 (GRCm39) |
T92P |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,377 (GRCm39) |
M176T |
probably benign |
Het |
| Esyt3 |
T |
C |
9: 99,197,278 (GRCm39) |
R851G |
probably benign |
Het |
| Fut4 |
T |
A |
9: 14,662,701 (GRCm39) |
M198L |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,755,953 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,896,224 (GRCm39) |
K4E |
possibly damaging |
Het |
| Gm9945 |
A |
G |
11: 53,371,178 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
A |
C |
19: 58,787,842 (GRCm39) |
I660R |
possibly damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,804 (GRCm39) |
I225V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,967,650 (GRCm39) |
D23G |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,187,781 (GRCm39) |
I158V |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,009,331 (GRCm39) |
Y505C |
possibly damaging |
Het |
| Kif16b |
A |
G |
2: 142,704,465 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,912 (GRCm39) |
V1336A |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,762,001 (GRCm39) |
S450P |
unknown |
Het |
| Lhfpl2 |
G |
A |
13: 94,310,734 (GRCm39) |
M1I |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,021,116 (GRCm39) |
I888T |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,573,383 (GRCm39) |
T563M |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,370,781 (GRCm39) |
A3238V |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,780,879 (GRCm39) |
S1246G |
probably null |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,562,600 (GRCm39) |
T599M |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,869,117 (GRCm39) |
P644S |
probably benign |
Het |
| Pkd1l1 |
A |
C |
11: 8,794,560 (GRCm39) |
F2317C |
possibly damaging |
Het |
| Prdm4 |
A |
G |
10: 85,736,801 (GRCm39) |
M613T |
possibly damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,798 (GRCm39) |
I371N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,721,958 (GRCm39) |
D1316G |
probably damaging |
Het |
| Rnf19b |
C |
T |
4: 128,967,315 (GRCm39) |
R285* |
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,824,894 (GRCm39) |
N381D |
possibly damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,652 (GRCm39) |
I586T |
probably damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,562 (GRCm39) |
H11R |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,836,909 (GRCm39) |
L173S |
probably damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,703 (GRCm39) |
F200S |
possibly damaging |
Het |
| Tex16 |
T |
A |
X: 111,028,653 (GRCm39) |
L384Q |
probably benign |
Het |
| Tox2 |
A |
G |
2: 163,118,100 (GRCm39) |
Q168R |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,927,624 (GRCm39) |
E172V |
probably damaging |
Het |
| Txndc11 |
G |
A |
16: 10,892,881 (GRCm39) |
|
probably benign |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,175 (GRCm39) |
I142F |
probably benign |
Het |
| Zdhhc25 |
A |
T |
15: 88,485,472 (GRCm39) |
H269L |
probably benign |
Het |
| Znrf4 |
T |
C |
17: 56,819,199 (GRCm39) |
D36G |
probably damaging |
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 |
|
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 |
|
|
R3876:Fbxo43
|
UTSW |
15 |
36,152,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation