Incidental Mutation 'IGL02195:Fbxo21'
| ID |
284030 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo21
|
| Ensembl Gene |
ENSMUSG00000032898 |
| Gene Name |
F-box protein 21 |
| Synonyms |
2810425J22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
IGL02195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
118114835-118148263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118140219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 560
(C560S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035579]
[ENSMUST00000202447]
|
| AlphaFold |
Q8VDH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035579
AA Change: C553S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: C553S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
24 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
33 |
73 |
6e-8 |
BLAST |
|
Pfam:Transglut_core2
|
215 |
390 |
3e-43 |
PFAM |
|
low complexity region
|
482 |
491 |
N/A |
INTRINSIC |
|
YccV-like
|
500 |
597 |
8.22e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201611
AA Change: C436S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202447
AA Change: C560S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: C560S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
24 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
33 |
73 |
6e-8 |
BLAST |
|
Pfam:Transglut_core2
|
215 |
390 |
3e-43 |
PFAM |
|
low complexity region
|
482 |
491 |
N/A |
INTRINSIC |
|
YccV-like
|
500 |
597 |
8.22e-39 |
SMART |
|
| Coding Region Coverage |
|
| 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 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 2 transcript variants. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
| Car11 |
G |
T |
7: 45,350,716 (GRCm39) |
V71L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
| Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
| Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
| Manea |
A |
C |
4: 26,340,628 (GRCm39) |
Y111* |
probably null |
Het |
| Map2k1 |
A |
G |
9: 64,101,090 (GRCm39) |
I196T |
probably benign |
Het |
| Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
| Meioc |
C |
A |
11: 102,565,683 (GRCm39) |
T433K |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
| Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
| Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 127,607,136 (GRCm39) |
M222L |
probably damaging |
Het |
|
| Other mutations in Fbxo21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01721:Fbxo21
|
APN |
5 |
118,126,855 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02131:Fbxo21
|
APN |
5 |
118,140,155 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02156:Fbxo21
|
APN |
5 |
118,132,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL02702:Fbxo21
|
APN |
5 |
118,138,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fbxo21
|
UTSW |
5 |
118,115,931 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0008:Fbxo21
|
UTSW |
5 |
118,146,078 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0055:Fbxo21
|
UTSW |
5 |
118,138,555 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0055:Fbxo21
|
UTSW |
5 |
118,138,555 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0089:Fbxo21
|
UTSW |
5 |
118,146,208 (GRCm39) |
missense |
probably benign |
|
|
R0101:Fbxo21
|
UTSW |
5 |
118,133,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Fbxo21
|
UTSW |
5 |
118,133,573 (GRCm39) |
splice site |
probably benign |
|
|
R0866:Fbxo21
|
UTSW |
5 |
118,115,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1673:Fbxo21
|
UTSW |
5 |
118,146,129 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2048:Fbxo21
|
UTSW |
5 |
118,146,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Fbxo21
|
UTSW |
5 |
118,115,031 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2161:Fbxo21
|
UTSW |
5 |
118,133,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Fbxo21
|
UTSW |
5 |
118,146,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Fbxo21
|
UTSW |
5 |
118,138,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4750:Fbxo21
|
UTSW |
5 |
118,138,533 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5807:Fbxo21
|
UTSW |
5 |
118,114,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6075:Fbxo21
|
UTSW |
5 |
118,126,948 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6528:Fbxo21
|
UTSW |
5 |
118,138,421 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7494:Fbxo21
|
UTSW |
5 |
118,138,388 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7498:Fbxo21
|
UTSW |
5 |
118,140,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7801:Fbxo21
|
UTSW |
5 |
118,124,189 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7857:Fbxo21
|
UTSW |
5 |
118,126,878 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7944:Fbxo21
|
UTSW |
5 |
118,146,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7945:Fbxo21
|
UTSW |
5 |
118,146,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8116:Fbxo21
|
UTSW |
5 |
118,128,919 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8354:Fbxo21
|
UTSW |
5 |
118,133,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Fbxo21
|
UTSW |
5 |
118,133,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Fbxo21
|
UTSW |
5 |
118,140,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Fbxo21
|
UTSW |
5 |
118,146,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Fbxo21
|
UTSW |
5 |
118,127,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Fbxo21
|
UTSW |
5 |
118,127,236 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation