Incidental Mutation 'R4256:Fbxo3'
ID |
321809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo3
|
Ensembl Gene |
ENSMUSG00000027180 |
Gene Name |
F-box protein 3 |
Synonyms |
Fba, 1700026K02Rik, 1200002G09Rik |
MMRRC Submission |
041069-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R4256 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
103858144-103893582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103881510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 281
(T281A)
|
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: T281A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028603 Gene: ENSMUSG00000027180 AA Change: T281A
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: T281A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099625 Gene: ENSMUSG00000027180 AA Change: T281A
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: T276A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106765 Gene: ENSMUSG00000027180 AA Change: T276A
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: T281A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106766 Gene: ENSMUSG00000027180 AA Change: T281A
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 |
0.7052 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
93% (41/44) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
Gsdma2 |
T |
A |
11: 98,542,758 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
Lgals12 |
T |
G |
19: 7,584,081 (GRCm39) |
E5D |
possibly damaging |
Het |
Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
Slc7a10 |
G |
T |
7: 34,898,140 (GRCm39) |
M297I |
probably damaging |
Het |
Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
Vmp1 |
T |
A |
11: 86,552,014 (GRCm39) |
I117L |
probably benign |
Het |
Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
Zfp329 |
A |
G |
7: 12,541,840 (GRCm39) |
V284A |
probably benign |
Het |
Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly 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 |
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'- GTTCACCAAAGTTGATTCCTCG -3'
Sequencing Primer
(F):5'- ATGGCTGTCTATACTGAACCAGG -3'
(R):5'- CACTGACTAGCACACAGT -3'
|
Posted On |
2015-06-20 |