Incidental Mutation 'R2048:Fbxo21'
| ID |
222201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo21
|
| Ensembl Gene |
ENSMUSG00000032898 |
| Gene Name |
F-box protein 21 |
| Synonyms |
2810425J22Rik |
| MMRRC Submission |
040055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R2048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
118114835-118148263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118146169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 597
(N597K)
|
| 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: N590K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: N590K
| 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: N473K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202447
AA Change: N597K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: N597K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
| Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
| Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
| Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
| Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
| Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
| Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
| Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
| Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
| Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
| Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
| Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
| Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly 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 |
|
|
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 |
|
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'- TCAGGAGGGTTTCAGCAGAG -3'
(R):5'- GCACACCATCTAAAGTGGGGAG -3'
Sequencing Primer
(F):5'- CAGAGAGCCATTGTGGAAAGC -3'
(R):5'- TGTCCTGTGCTGACTCCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation