Incidental Mutation 'R7001:Fbxo3'
ID |
544523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo3
|
Ensembl Gene |
ENSMUSG00000027180 |
Gene Name |
F-box protein 3 |
Synonyms |
Fba, 1700026K02Rik, 1200002G09Rik |
MMRRC Submission |
045106-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R7001 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
103858144-103893582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103881569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 300
(H300Q)
|
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: H300Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028603 Gene: ENSMUSG00000027180 AA Change: H300Q
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: H300Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099625 Gene: ENSMUSG00000027180 AA Change: H300Q
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 |
possibly damaging
Transcript: ENSMUST00000111135
AA Change: H295Q
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106765 Gene: ENSMUSG00000027180 AA Change: H295Q
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: H300Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106766 Gene: ENSMUSG00000027180 AA Change: H300Q
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 |
|
Meta Mutation Damage Score |
0.2628 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,744,781 (GRCm39) |
F800S |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,091,717 (GRCm39) |
M434K |
possibly damaging |
Het |
Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,214,438 (GRCm39) |
E28G |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
Zfp729a |
A |
T |
13: 67,768,468 (GRCm39) |
I587K |
probably benign |
Het |
Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
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 |
R2899:Fbxo3
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TCTATACTGAACCAGGGGCAC -3'
(R):5'- CACCAAGAGTCTTACGATTCGG -3'
Sequencing Primer
(F):5'- ACCAAGGTTTTCCACTATTATAAAGC -3'
(R):5'- GTGGCATTAGTCTACACTTCTAGGAC -3'
|
Posted On |
2019-05-13 |