Incidental Mutation 'R2899:Fbxo3'
| ID |
261400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo3
|
| Ensembl Gene |
ENSMUSG00000027180 |
| Gene Name |
F-box protein 3 |
| Synonyms |
Fba, 1700026K02Rik, 1200002G09Rik |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103858144-103893582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103881480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 271
(Y271N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028603]
[ENSMUST00000102565]
[ENSMUST00000111135]
[ENSMUST00000111136]
|
| AlphaFold |
Q9DC63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028603
AA Change: Y271N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: Y271N
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
294 |
384 |
3.1e-30 |
PFAM |
|
coiled coil region
|
417 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102565
AA Change: Y271N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: Y271N
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
385 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111135
AA Change: Y266N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: Y266N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fs1a1
|
14 |
48 |
4e-3 |
SMART |
|
Blast:FBOX
|
16 |
51 |
2e-13 |
BLAST |
|
SMI1_KNR4
|
116 |
246 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
288 |
380 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111136
AA Change: Y271N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: Y271N
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
361 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143799
|
| Meta Mutation Damage Score |
0.6565 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| 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. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
| Other mutations in Fbxo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Fbxo3
|
APN |
2 |
103,864,021 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02187:Fbxo3
|
APN |
2 |
103,858,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02323:Fbxo3
|
APN |
2 |
103,878,296 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02941:Fbxo3
|
APN |
2 |
103,880,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03160:Fbxo3
|
APN |
2 |
103,860,692 (GRCm39) |
nonsense |
probably null |
|
|
IGL03346:Fbxo3
|
APN |
2 |
103,880,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
associative
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
littleknown
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
overrated
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
transitory
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Fbxo3
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4256:Fbxo3
|
UTSW |
2 |
103,881,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Fbxo3
|
UTSW |
2 |
103,883,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Fbxo3
|
UTSW |
2 |
103,881,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Fbxo3
|
UTSW |
2 |
103,873,357 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7226:Fbxo3
|
UTSW |
2 |
103,880,642 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7577:Fbxo3
|
UTSW |
2 |
103,881,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7841:Fbxo3
|
UTSW |
2 |
103,890,337 (GRCm39) |
missense |
unknown |
|
|
R7897:Fbxo3
|
UTSW |
2 |
103,883,757 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8039:Fbxo3
|
UTSW |
2 |
103,885,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Fbxo3
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Fbxo3
|
UTSW |
2 |
103,885,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Fbxo3
|
UTSW |
2 |
103,864,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Fbxo3
|
UTSW |
2 |
103,881,553 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8960:Fbxo3
|
UTSW |
2 |
103,858,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACCATGATGGCTGTCTATAC -3'
(R):5'- GTTCACCAAAGTTGATTCCTCGG -3'
Sequencing Primer
(F):5'- ATGGCTGTCTATACTGAACCAGG -3'
(R):5'- GGGGGTTTTGTCATGGAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation