Incidental Mutation 'R0866:Fbxo21'
| ID |
82343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo21
|
| Ensembl Gene |
ENSMUSG00000032898 |
| Gene Name |
F-box protein 21 |
| Synonyms |
2810425J22Rik |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
118114835-118148263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118115098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 78
(R78L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035579]
[ENSMUST00000202447]
|
| AlphaFold |
Q8VDH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035579
AA Change: R78L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: R78L
| 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 |
noncoding transcript
Transcript: ENSMUST00000157460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201427
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201611
AA Change: R21L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202447
AA Change: R78L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: R78L
| 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 |
0.0872 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTACGGCTTCTTAGGCTCCTATC -3'
(R):5'- GCTTTGCCTGCACGTCAACATC -3'
Sequencing Primer
(F):5'- CTCAGGTACGCGGACAAG -3'
(R):5'- AAAGATGCGCCTCCTCCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation