Incidental Mutation 'R6595:Fbxo9'
| ID |
524879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo9
|
| Ensembl Gene |
ENSMUSG00000001366 |
| Gene Name |
f-box protein 9 |
| Synonyms |
9030401P18Rik |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77988781-78016347 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77994494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 274
(D274E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001402]
[ENSMUST00000085311]
|
| AlphaFold |
Q8BK06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001402
AA Change: D275E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366
AA Change: D275E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
176 |
228 |
5.3e-9 |
PFAM |
|
Pfam:F-box-like
|
178 |
229 |
3.7e-11 |
PFAM |
|
Blast:HNHc
|
347 |
399 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085311
AA Change: D274E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366
AA Change: D274E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
175 |
227 |
4.9e-9 |
PFAM |
|
Pfam:F-box-like
|
177 |
228 |
4e-11 |
PFAM |
|
Blast:HNHc
|
346 |
398 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162451
|
| Meta Mutation Damage Score |
0.2358 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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 at least 3 transcript variants diverging at the 5' terminus. [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 |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
Het |
|
| Other mutations in Fbxo9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02269:Fbxo9
|
APN |
9 |
77,994,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02348:Fbxo9
|
APN |
9 |
78,016,289 (GRCm39) |
start codon destroyed |
probably benign |
|
|
IGL02544:Fbxo9
|
APN |
9 |
77,994,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Fbxo9
|
APN |
9 |
77,989,377 (GRCm39) |
splice site |
probably benign |
|
|
PIT4280001:Fbxo9
|
UTSW |
9 |
77,994,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Fbxo9
|
UTSW |
9 |
77,994,529 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2075:Fbxo9
|
UTSW |
9 |
77,991,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4030:Fbxo9
|
UTSW |
9 |
78,005,623 (GRCm39) |
splice site |
probably null |
|
|
R4978:Fbxo9
|
UTSW |
9 |
77,993,168 (GRCm39) |
intron |
probably benign |
|
|
R4981:Fbxo9
|
UTSW |
9 |
77,993,168 (GRCm39) |
intron |
probably benign |
|
|
R5297:Fbxo9
|
UTSW |
9 |
77,993,561 (GRCm39) |
missense |
probably benign |
|
|
R5326:Fbxo9
|
UTSW |
9 |
78,008,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5327:Fbxo9
|
UTSW |
9 |
78,003,146 (GRCm39) |
splice site |
probably null |
|
|
R5542:Fbxo9
|
UTSW |
9 |
78,008,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5776:Fbxo9
|
UTSW |
9 |
78,002,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Fbxo9
|
UTSW |
9 |
78,008,826 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8988:Fbxo9
|
UTSW |
9 |
77,991,933 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9342:Fbxo9
|
UTSW |
9 |
78,002,520 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAGGGCTACTAGGAACTG -3'
(R):5'- ACCTAAGTGCCTATGAACGTAAC -3'
Sequencing Primer
(F):5'- CTACTAGGAACTGGAGGGATTATAC -3'
(R):5'- TGCCTATGAACGTAACTGAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation