Incidental Mutation 'R6498:Fbxo44'
ID |
540699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo44
|
Ensembl Gene |
ENSMUSG00000029001 |
Gene Name |
F-box protein 44 |
Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
MMRRC Submission |
044630-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6498 (G1)
|
Quality Score |
150.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
Type of Mutation |
|
DNA Base Change (assembly) |
C to T
at 148238882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
Het |
|
Other mutations in Fbxo44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
trompo
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
R0040:Fbxo44
|
UTSW |
4 |
148,243,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Fbxo44
|
UTSW |
4 |
148,243,266 (GRCm39) |
utr 5 prime |
probably benign |
|
R0850:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0899:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1169:Fbxo44
|
UTSW |
4 |
148,240,433 (GRCm39) |
missense |
probably benign |
0.01 |
R1423:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3712:Fbxo44
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
R3774:Fbxo44
|
UTSW |
4 |
148,241,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R3834:Fbxo44
|
UTSW |
4 |
148,240,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R4411:Fbxo44
|
UTSW |
4 |
148,238,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Fbxo44
|
UTSW |
4 |
148,240,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Fbxo44
|
UTSW |
4 |
148,240,669 (GRCm39) |
missense |
probably benign |
0.00 |
R5108:Fbxo44
|
UTSW |
4 |
148,243,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R5344:Fbxo44
|
UTSW |
4 |
148,238,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5423:Fbxo44
|
UTSW |
4 |
148,238,686 (GRCm39) |
missense |
probably benign |
0.00 |
R5930:Fbxo44
|
UTSW |
4 |
148,241,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6017:Fbxo44
|
UTSW |
4 |
148,243,010 (GRCm39) |
missense |
probably benign |
0.17 |
R6132:Fbxo44
|
UTSW |
4 |
148,240,565 (GRCm39) |
missense |
probably benign |
0.10 |
R7085:Fbxo44
|
UTSW |
4 |
148,243,200 (GRCm39) |
missense |
probably damaging |
0.98 |
R7142:Fbxo44
|
UTSW |
4 |
148,243,269 (GRCm39) |
missense |
unknown |
|
R7374:Fbxo44
|
UTSW |
4 |
148,241,094 (GRCm39) |
missense |
probably benign |
0.21 |
R7679:Fbxo44
|
UTSW |
4 |
148,238,089 (GRCm39) |
missense |
probably benign |
0.43 |
R8306:Fbxo44
|
UTSW |
4 |
148,243,089 (GRCm39) |
missense |
probably benign |
0.42 |
R8899:Fbxo44
|
UTSW |
4 |
148,238,078 (GRCm39) |
nonsense |
probably null |
|
X0017:Fbxo44
|
UTSW |
4 |
148,240,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCGAGAAGAACAGAGGGACA -3'
(R):5'- CAGGACTGAGTTGCCAGTTG -3'
Sequencing Primer
(F):5'- AAGTTCAAGGTCATCCCTGG -3'
(R):5'- AGTTGCCAGTTGATCAGTGAC -3'
|
Posted On |
2018-11-09 |