Incidental Mutation 'R3431:Fbxo16'
| ID |
268130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo16
|
| Ensembl Gene |
ENSMUSG00000034532 |
| Gene Name |
F-box protein 16 |
| Synonyms |
Fbx16 |
| MMRRC Submission |
040649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3431 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65504067-65561422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65531233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 46
(F46L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169656]
[ENSMUST00000224629]
[ENSMUST00000226005]
|
| AlphaFold |
Q9QZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169656
AA Change: F46L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130805
Gene: ENSMUSG00000034532
AA Change: F46L
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
92 |
132 |
3.43e-3 |
SMART |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223608
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224629
AA Change: F46L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226005
AA Change: F46L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.7129 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (41/41) |
| 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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
| Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
| Dhrs7 |
A |
T |
12: 72,711,501 (GRCm39) |
L12Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
| Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
| H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,330 (GRCm39) |
R142G |
probably benign |
Het |
| Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,572,297 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly damaging |
Het |
|
| Other mutations in Fbxo16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02491:Fbxo16
|
APN |
14 |
65,558,736 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1129:Fbxo16
|
UTSW |
14 |
65,532,981 (GRCm39) |
missense |
probably benign |
|
|
R1423:Fbxo16
|
UTSW |
14 |
65,524,623 (GRCm39) |
splice site |
probably benign |
|
|
R1776:Fbxo16
|
UTSW |
14 |
65,532,835 (GRCm39) |
splice site |
probably null |
|
|
R1862:Fbxo16
|
UTSW |
14 |
65,508,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Fbxo16
|
UTSW |
14 |
65,508,163 (GRCm39) |
start gained |
probably benign |
|
|
R3432:Fbxo16
|
UTSW |
14 |
65,531,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3976:Fbxo16
|
UTSW |
14 |
65,524,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4065:Fbxo16
|
UTSW |
14 |
65,508,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Fbxo16
|
UTSW |
14 |
65,536,657 (GRCm39) |
missense |
probably benign |
|
|
R4973:Fbxo16
|
UTSW |
14 |
65,558,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6637:Fbxo16
|
UTSW |
14 |
65,533,210 (GRCm39) |
splice site |
probably null |
|
|
R7213:Fbxo16
|
UTSW |
14 |
65,536,868 (GRCm39) |
splice site |
probably null |
|
|
R7274:Fbxo16
|
UTSW |
14 |
65,558,716 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8871:Fbxo16
|
UTSW |
14 |
65,531,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Fbxo16
|
UTSW |
14 |
65,531,287 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9209:Fbxo16
|
UTSW |
14 |
65,524,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fbxo16
|
UTSW |
14 |
65,531,309 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Fbxo16
|
UTSW |
14 |
65,536,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATGTGCACAGAAGTGG -3'
(R):5'- TGCCATTACCTGTGCACAAC -3'
Sequencing Primer
(F):5'- CATGTGCACAGAAGTGGGAGAAAG -3'
(R):5'- TTACCTGTGCACAACGGCAAAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation