Incidental Mutation 'R1129:Fbxo16'
| ID |
96509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo16
|
| Ensembl Gene |
ENSMUSG00000034532 |
| Gene Name |
F-box protein 16 |
| Synonyms |
Fbx16 |
| MMRRC Submission |
039202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1129 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65504067-65561422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65532981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 161
(R161K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169656]
[ENSMUST00000224629]
[ENSMUST00000226005]
|
| AlphaFold |
Q9QZM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169656
AA Change: R161K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130805
Gene: ENSMUSG00000034532
AA Change: R161K
| 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 benign
Transcript: ENSMUST00000224629
AA Change: R161K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226005
AA Change: R161K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| 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, 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
| Cnnm3 |
T |
C |
1: 36,552,097 (GRCm39) |
L369P |
probably damaging |
Het |
| Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
| Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
| Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,431,462 (GRCm39) |
Y63C |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,790 (GRCm39) |
E233G |
possibly damaging |
Het |
| Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,431,347 (GRCm39) |
E772G |
probably benign |
Het |
| Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
| Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
G |
8: 122,335,154 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R3431:Fbxo16
|
UTSW |
14 |
65,531,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GAGCTGAGCCTTCAAGGAAGATGAC -3'
(R):5'- GTCTGTGAAGCCTCTGAAGAGAAGC -3'
Sequencing Primer
(F):5'- GATGACAGACATTATCTGGGCTCC -3'
(R):5'- CTTGAAATCACGGGGTACGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation