Incidental Mutation 'R4213:Fbxo25'
| ID |
319301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo25
|
| Ensembl Gene |
ENSMUSG00000038365 |
| Gene Name |
F-box protein 25 |
| Synonyms |
9130015I06Rik, Fbx25 |
| MMRRC Submission |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13957803-13990522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13989581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 343
(T343A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043520]
[ENSMUST00000209913]
|
| AlphaFold |
Q9D2Y6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043520
AA Change: T335A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039544
Gene: ENSMUSG00000038365
AA Change: T335A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
209 |
222 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
230 |
271 |
1e-19 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209310
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209913
AA Change: T343A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210280
|
| Meta Mutation Damage Score |
0.3260 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| 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 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. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,261 (GRCm39) |
F210L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,960 (GRCm39) |
T298I |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,506 (GRCm39) |
T87P |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
| Zswim1 |
T |
C |
2: 164,667,705 (GRCm39) |
V319A |
probably benign |
Het |
|
| Other mutations in Fbxo25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02226:Fbxo25
|
APN |
8 |
13,973,922 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03087:Fbxo25
|
APN |
8 |
13,974,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03112:Fbxo25
|
APN |
8 |
13,971,034 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03403:Fbxo25
|
APN |
8 |
13,979,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0720:Fbxo25
|
UTSW |
8 |
13,985,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Fbxo25
|
UTSW |
8 |
13,985,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1865:Fbxo25
|
UTSW |
8 |
13,985,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Fbxo25
|
UTSW |
8 |
13,971,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4248:Fbxo25
|
UTSW |
8 |
13,989,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Fbxo25
|
UTSW |
8 |
13,971,886 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7450:Fbxo25
|
UTSW |
8 |
13,981,235 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8264:Fbxo25
|
UTSW |
8 |
13,979,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8409:Fbxo25
|
UTSW |
8 |
13,964,999 (GRCm39) |
nonsense |
probably null |
|
|
R9055:Fbxo25
|
UTSW |
8 |
13,965,023 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9086:Fbxo25
|
UTSW |
8 |
13,989,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTACAGGGCGACTAAAGAACG -3'
(R):5'- ACAGGTACAGGCAGTCACTG -3'
Sequencing Primer
(F):5'- GCGACTAAAGAACGTTGTCACCTG -3'
(R):5'- AGTCACTGAGCCTGTCGTCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation