Incidental Mutation 'R6656:Fbxo4'
| ID |
526637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo4
|
| Ensembl Gene |
ENSMUSG00000022184 |
| Gene Name |
F-box protein 4 |
| Synonyms |
1700096C12Rik |
| MMRRC Submission |
044777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
3994927-4009055 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4005305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 192
(V192M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022791]
|
| AlphaFold |
Q8CHQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022791
AA Change: V192M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: V192M
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
5.57e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148817
|
| Meta Mutation Damage Score |
0.0847 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (35/36) |
| 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
| B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
| D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
| Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
| Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
| Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
| Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
| Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
| Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
probably damaging |
Het |
|
| Other mutations in Fbxo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01747:Fbxo4
|
APN |
15 |
3,995,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL01879:Fbxo4
|
APN |
15 |
4,005,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03070:Fbxo4
|
APN |
15 |
4,007,344 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT1430001:Fbxo4
|
UTSW |
15 |
4,008,782 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1601:Fbxo4
|
UTSW |
15 |
3,998,447 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4556:Fbxo4
|
UTSW |
15 |
3,995,187 (GRCm39) |
makesense |
probably null |
|
|
R4557:Fbxo4
|
UTSW |
15 |
3,995,187 (GRCm39) |
makesense |
probably null |
|
|
R4783:Fbxo4
|
UTSW |
15 |
3,998,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4784:Fbxo4
|
UTSW |
15 |
3,998,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4785:Fbxo4
|
UTSW |
15 |
3,998,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4871:Fbxo4
|
UTSW |
15 |
4,005,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Fbxo4
|
UTSW |
15 |
4,007,238 (GRCm39) |
splice site |
probably null |
|
|
R5435:Fbxo4
|
UTSW |
15 |
3,995,274 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5876:Fbxo4
|
UTSW |
15 |
4,007,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6423:Fbxo4
|
UTSW |
15 |
3,995,274 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6481:Fbxo4
|
UTSW |
15 |
3,995,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Fbxo4
|
UTSW |
15 |
4,007,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Fbxo4
|
UTSW |
15 |
4,000,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7543:Fbxo4
|
UTSW |
15 |
4,007,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Fbxo4
|
UTSW |
15 |
3,998,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Fbxo4
|
UTSW |
15 |
3,995,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9079:Fbxo4
|
UTSW |
15 |
3,998,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9333:Fbxo4
|
UTSW |
15 |
3,998,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9546:Fbxo4
|
UTSW |
15 |
3,998,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Fbxo4
|
UTSW |
15 |
3,998,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Fbxo4
|
UTSW |
15 |
4,000,933 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATTTAGTAGGACCGGG -3'
(R):5'- TGTCTTACAGAGGACTCAGTAAATG -3'
Sequencing Primer
(F):5'- GGGGCCCATTCACCAATTTC -3'
(R):5'- TTCTCAAATGAACAGCAAGTTAAATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation