Incidental Mutation 'R0694:Fbxo39'
| ID |
63430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo39
|
| Ensembl Gene |
ENSMUSG00000070388 |
| Gene Name |
F-box protein 39 |
| Synonyms |
1700010H23Rik |
| MMRRC Submission |
038879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0694 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72205270-72210242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72209295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 385
(R385Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108504]
[ENSMUST00000146233]
|
| AlphaFold |
Q5NBU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108504
AA Change: R385Q
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104144
Gene: ENSMUSG00000070388
AA Change: R385Q
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
19 |
59 |
7.88e-3 |
SMART |
|
SCOP:d1a4ya_
|
130 |
274 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146233
|
| SMART Domains |
Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
228 |
270 |
3e-12 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.7%
|
| 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 FBXO39, 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
C |
T |
13: 14,362,419 (GRCm39) |
T961I |
probably damaging |
Het |
| Asb13 |
G |
T |
13: 3,699,480 (GRCm39) |
A227S |
probably benign |
Het |
| Atp6v1g1 |
C |
T |
4: 63,468,230 (GRCm39) |
R78W |
probably benign |
Het |
| Bglap2 |
C |
T |
3: 88,285,723 (GRCm39) |
D31N |
possibly damaging |
Het |
| Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,423 (GRCm39) |
I248N |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,844,424 (GRCm39) |
N284S |
probably damaging |
Het |
| Hus1 |
C |
T |
11: 8,957,531 (GRCm39) |
W144* |
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,619,208 (GRCm39) |
T371A |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,586,501 (GRCm39) |
N2510I |
probably damaging |
Het |
| Ptprn2 |
G |
T |
12: 116,787,975 (GRCm39) |
A105S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
C |
2: 124,505,961 (GRCm39) |
S633P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,711 (GRCm39) |
N362S |
probably damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,921 (GRCm39) |
W126* |
probably null |
Het |
| Trim50 |
A |
T |
5: 135,382,399 (GRCm39) |
I84L |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,725,704 (GRCm39) |
F91I |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 81,884,148 (GRCm39) |
Y5C |
probably damaging |
Het |
|
| Other mutations in Fbxo39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02828:Fbxo39
|
APN |
11 |
72,208,041 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0281:Fbxo39
|
UTSW |
11 |
72,208,356 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0479:Fbxo39
|
UTSW |
11 |
72,208,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Fbxo39
|
UTSW |
11 |
72,209,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0597:Fbxo39
|
UTSW |
11 |
72,207,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Fbxo39
|
UTSW |
11 |
72,209,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2504:Fbxo39
|
UTSW |
11 |
72,208,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3771:Fbxo39
|
UTSW |
11 |
72,208,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6770:Fbxo39
|
UTSW |
11 |
72,208,622 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7361:Fbxo39
|
UTSW |
11 |
72,207,800 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7911:Fbxo39
|
UTSW |
11 |
72,208,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Fbxo39
|
UTSW |
11 |
72,208,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8334:Fbxo39
|
UTSW |
11 |
72,208,470 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Fbxo39
|
UTSW |
11 |
72,209,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8997:Fbxo39
|
UTSW |
11 |
72,208,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9102:Fbxo39
|
UTSW |
11 |
72,208,316 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9333:Fbxo39
|
UTSW |
11 |
72,208,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Fbxo39
|
UTSW |
11 |
72,208,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0058:Fbxo39
|
UTSW |
11 |
72,208,227 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATAGAGCTGTGATGCCTGAGCC -3'
(R):5'- GAGCAGTGCCTGTCTCATATCTGTC -3'
Sequencing Primer
(F):5'- CTGGCTCATAGCAGTACACAGG -3'
(R):5'- GTCCCTCTCCCACTTACCAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation