Incidental Mutation 'IGL02156:Fbxo21'
ID |
282257 |
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 # |
IGL02156
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
118114835-118148263 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 118132733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035579]
[ENSMUST00000202447]
|
AlphaFold |
Q8VDH1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035579
|
SMART Domains |
Protein: ENSMUSP00000035506 Gene: ENSMUSG00000032898
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 benign
Transcript: ENSMUST00000201611
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202447
|
SMART Domains |
Protein: ENSMUSP00000143873 Gene: ENSMUSG00000032898
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
Grk6 |
T |
C |
13: 55,597,174 (GRCm39) |
F36L |
possibly damaging |
Het |
Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
Myo1h |
A |
C |
5: 114,491,972 (GRCm39) |
|
probably benign |
Het |
Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
Pard3b |
T |
A |
1: 61,807,109 (GRCm39) |
D41E |
possibly damaging |
Het |
Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,965,799 (GRCm39) |
F814I |
probably benign |
Het |
Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
Sptbn5 |
G |
T |
2: 119,878,098 (GRCm39) |
|
probably benign |
Het |
Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
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 |
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 |
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 |