Incidental Mutation 'R0055:Fbxo21'
ID |
18447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo21
|
Ensembl Gene |
ENSMUSG00000032898 |
Gene Name |
F-box protein 21 |
Synonyms |
2810425J22Rik |
MMRRC Submission |
038349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R0055 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
118114835-118148263 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118138555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 493
(D493E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035579]
[ENSMUST00000202447]
|
AlphaFold |
Q8VDH1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035579
AA Change: D493E
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000035506 Gene: ENSMUSG00000032898 AA Change: D493E
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 |
unknown
Transcript: ENSMUST00000201611
AA Change: D376E
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202447
AA Change: D500E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143873 Gene: ENSMUSG00000032898 AA Change: D500E
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 |
|
Meta Mutation Damage Score |
0.1032 |
Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
Validation Efficiency |
85% (52/61) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
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 |
|
IGL02195:Fbxo21
|
APN |
5 |
118,140,219 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2013-03-25 |