Incidental Mutation 'R1482:Fbxo6'
| ID |
164437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo6
|
| Ensembl Gene |
ENSMUSG00000055401 |
| Gene Name |
F-box protein 6 |
| Synonyms |
Fbxo6b, FBG2, Fbs2, Fbx6b |
| MMRRC Submission |
039535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R1482 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148230173-148236592 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 148230441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 274
(R274*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000030860]
[ENSMUST00000056965]
[ENSMUST00000084129]
[ENSMUST00000105706]
[ENSMUST00000105707]
[ENSMUST00000168503]
[ENSMUST00000152098]
[ENSMUST00000126615]
[ENSMUST00000132698]
[ENSMUST00000140049]
[ENSMUST00000134261]
[ENSMUST00000132083]
|
| AlphaFold |
Q9QZN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030858
AA Change: R274*
|
| SMART Domains |
Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: R274*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030860
|
| SMART Domains |
Protein: ENSMUSP00000030860
Gene: ENSMUSG00000029003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
12 |
184 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056965
AA Change: R274*
|
| SMART Domains |
Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: R274*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084129
|
| SMART Domains |
Protein: ENSMUSP00000081146
Gene: ENSMUSG00000029003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
13 |
167 |
4.2e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105706
AA Change: R274*
|
| SMART Domains |
Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: R274*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105707
|
| SMART Domains |
Protein: ENSMUSP00000101332
Gene: ENSMUSG00000029003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
13 |
171 |
4.3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105708
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168503
AA Change: R274*
|
| SMART Domains |
Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: R274*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148742
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152098
|
| SMART Domains |
Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126615
|
| SMART Domains |
Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
237 |
1.39e-97 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132698
|
| SMART Domains |
Protein: ENSMUSP00000122774
Gene: ENSMUSG00000029003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
12 |
168 |
2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140049
|
| SMART Domains |
Protein: ENSMUSP00000120481
Gene: ENSMUSG00000029003
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4FJO|C
|
32 |
107 |
1e-47 |
PDB |
|
SCOP:d1go4a_
|
32 |
107 |
1e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134261
|
| SMART Domains |
Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
228 |
1.89e-85 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132083
|
| SMART Domains |
Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 83.6%
|
| Validation Efficiency |
|
| 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, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
G |
A |
19: 3,767,192 (GRCm39) |
D260N |
probably benign |
Het |
| Ankef1 |
A |
T |
2: 136,392,078 (GRCm39) |
K422N |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aqp6 |
A |
T |
15: 99,502,188 (GRCm39) |
*294C |
probably null |
Het |
| Baz2a |
T |
A |
10: 127,944,877 (GRCm39) |
M38K |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,265 (GRCm39) |
D151G |
probably damaging |
Het |
| Cabp5 |
T |
A |
7: 13,132,267 (GRCm39) |
L12* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,845,795 (GRCm39) |
V993A |
possibly damaging |
Het |
| Cd44 |
G |
A |
2: 102,661,728 (GRCm39) |
T306I |
probably damaging |
Het |
| Cdc20 |
A |
T |
4: 118,294,253 (GRCm39) |
N22K |
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,807,807 (GRCm39) |
D433E |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,503,725 (GRCm39) |
D47G |
probably damaging |
Het |
| Csf2 |
T |
C |
11: 54,139,389 (GRCm39) |
K65E |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,819,473 (GRCm39) |
E2005G |
probably damaging |
Het |
| Dclk3 |
G |
T |
9: 111,296,888 (GRCm39) |
R144L |
possibly damaging |
Het |
| Dcpp2 |
C |
T |
17: 24,119,516 (GRCm39) |
T110I |
probably damaging |
Het |
| Disp1 |
A |
T |
1: 182,868,038 (GRCm39) |
F1461I |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,016,831 (GRCm39) |
G1562D |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,820,163 (GRCm39) |
K1217E |
possibly damaging |
Het |
| Exoc3l2 |
C |
A |
7: 19,229,284 (GRCm39) |
P234Q |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,838,047 (GRCm39) |
V364A |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,876 (GRCm39) |
L265P |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,674 (GRCm39) |
Q253L |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,406,281 (GRCm39) |
V1011M |
probably benign |
Het |
| Fgd4 |
G |
T |
16: 16,302,337 (GRCm39) |
Q73K |
probably benign |
Het |
| Fth1 |
A |
G |
19: 9,962,217 (GRCm39) |
T154A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,370,866 (GRCm39) |
H572Q |
probably benign |
Het |
| Kcnk10 |
G |
A |
12: 98,456,207 (GRCm39) |
T208I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,552,635 (GRCm39) |
V1204M |
probably damaging |
Het |
| Keg1 |
A |
C |
19: 12,696,185 (GRCm39) |
H166P |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,662,218 (GRCm39) |
D74V |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,218 (GRCm39) |
V219A |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,451 (GRCm39) |
I173T |
possibly damaging |
Het |
| Mov10 |
G |
T |
3: 104,711,862 (GRCm39) |
P170Q |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,847 (GRCm39) |
A286S |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,963,997 (GRCm39) |
Y244C |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,987,414 (GRCm39) |
C359S |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,463,667 (GRCm39) |
T633I |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,512 (GRCm39) |
T22S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,043 (GRCm39) |
L342M |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,540 (GRCm39) |
F223L |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,463 (GRCm39) |
R153S |
probably damaging |
Het |
| Or6c205 |
T |
A |
10: 129,087,012 (GRCm39) |
I203N |
possibly damaging |
Het |
| Or7e176 |
G |
A |
9: 20,172,020 (GRCm39) |
V295I |
possibly damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,821,590 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
T |
1: 62,205,526 (GRCm39) |
D440V |
probably damaging |
Het |
| Pou3f2 |
T |
G |
4: 22,486,960 (GRCm39) |
D391A |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,139,512 (GRCm39) |
V79A |
probably benign |
Het |
| Rwdd2a |
A |
G |
9: 86,456,331 (GRCm39) |
D169G |
probably damaging |
Het |
| Scn3b |
A |
C |
9: 40,190,792 (GRCm39) |
D74A |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 79,130,050 (GRCm39) |
D61N |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,053,004 (GRCm39) |
D2089E |
probably damaging |
Het |
| Vmn2r69 |
C |
G |
7: 85,056,082 (GRCm39) |
W685C |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,348 (GRCm39) |
Q1272R |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,160,462 (GRCm39) |
F699L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,803 (GRCm39) |
N448K |
possibly damaging |
Het |
| Zfp618 |
C |
A |
4: 63,033,685 (GRCm39) |
D307E |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,914,844 (GRCm39) |
F1219S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,687 (GRCm39) |
D248E |
probably damaging |
Het |
|
| Other mutations in Fbxo6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Fbxo6
|
APN |
4 |
148,230,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00940:Fbxo6
|
APN |
4 |
148,230,567 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02996:Fbxo6
|
APN |
4 |
148,231,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Fbxo6
|
APN |
4 |
148,230,579 (GRCm39) |
nonsense |
probably null |
|
|
R0556:Fbxo6
|
UTSW |
4 |
148,230,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Fbxo6
|
UTSW |
4 |
148,230,567 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1986:Fbxo6
|
UTSW |
4 |
148,230,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:Fbxo6
|
UTSW |
4 |
148,234,090 (GRCm39) |
unclassified |
probably benign |
|
|
R4994:Fbxo6
|
UTSW |
4 |
148,233,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6102:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6129:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Fbxo6
|
UTSW |
4 |
148,233,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Fbxo6
|
UTSW |
4 |
148,230,462 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7997:Fbxo6
|
UTSW |
4 |
148,231,852 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTCAGAGTGCCAGCAACCC -3'
(R):5'- CCAACAGTGGAATGATGCCAAATGG -3'
Sequencing Primer
(F):5'- TCAAACCAGGCTGGGTTACTG -3'
(R):5'- CATGGCAAGTCTTAATGGTCTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation