Incidental Mutation 'IGL02155:Fbxo31'
ID |
282182 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxo31
|
Ensembl Gene |
ENSMUSG00000052934 |
Gene Name |
F-box protein 31 |
Synonyms |
Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02155
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122285814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 212
(F212S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059018]
[ENSMUST00000127664]
|
AlphaFold |
Q3TQF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059018
AA Change: F212S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057573 Gene: ENSMUSG00000052934 AA Change: F212S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
FBOX
|
56 |
96 |
3.45e-8 |
SMART |
low complexity region
|
358 |
379 |
N/A |
INTRINSIC |
low complexity region
|
385 |
412 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212985
|
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 is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,583,350 (GRCm39) |
H302R |
probably null |
Het |
Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
Cyp2a5 |
T |
A |
7: 26,542,471 (GRCm39) |
F491Y |
probably benign |
Het |
Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
Gpi1 |
G |
T |
7: 33,929,614 (GRCm39) |
Q9K |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,567,488 (GRCm39) |
I394V |
probably benign |
Het |
Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
Sema4d |
A |
G |
13: 51,857,303 (GRCm39) |
V643A |
probably benign |
Het |
Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
probably benign |
Het |
|
Other mutations in Fbxo31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00983:Fbxo31
|
APN |
8 |
122,281,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02551:Fbxo31
|
APN |
8 |
122,293,083 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03092:Fbxo31
|
APN |
8 |
122,286,757 (GRCm39) |
missense |
probably benign |
|
Archive
|
UTSW |
8 |
122,281,967 (GRCm39) |
missense |
probably benign |
|
Repository
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R0377:Fbxo31
|
UTSW |
8 |
122,285,841 (GRCm39) |
unclassified |
probably benign |
|
R0730:Fbxo31
|
UTSW |
8 |
122,282,103 (GRCm39) |
unclassified |
probably benign |
|
R1132:Fbxo31
|
UTSW |
8 |
122,279,019 (GRCm39) |
frame shift |
probably null |
|
R1132:Fbxo31
|
UTSW |
8 |
122,279,015 (GRCm39) |
frame shift |
probably null |
|
R1626:Fbxo31
|
UTSW |
8 |
122,286,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Fbxo31
|
UTSW |
8 |
122,287,177 (GRCm39) |
nonsense |
probably null |
|
R2215:Fbxo31
|
UTSW |
8 |
122,293,050 (GRCm39) |
missense |
probably benign |
0.01 |
R3726:Fbxo31
|
UTSW |
8 |
122,305,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R3761:Fbxo31
|
UTSW |
8 |
122,287,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4646:Fbxo31
|
UTSW |
8 |
122,286,755 (GRCm39) |
missense |
probably benign |
|
R4782:Fbxo31
|
UTSW |
8 |
122,279,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Fbxo31
|
UTSW |
8 |
122,279,178 (GRCm39) |
nonsense |
probably null |
|
R5103:Fbxo31
|
UTSW |
8 |
122,279,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5715:Fbxo31
|
UTSW |
8 |
122,305,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Fbxo31
|
UTSW |
8 |
122,305,198 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6551:Fbxo31
|
UTSW |
8 |
122,291,443 (GRCm39) |
intron |
probably benign |
|
R7027:Fbxo31
|
UTSW |
8 |
122,305,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Fbxo31
|
UTSW |
8 |
122,281,060 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7271:Fbxo31
|
UTSW |
8 |
122,305,503 (GRCm39) |
unclassified |
probably benign |
|
R7594:Fbxo31
|
UTSW |
8 |
122,279,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Fbxo31
|
UTSW |
8 |
122,291,384 (GRCm39) |
splice site |
probably null |
|
R8039:Fbxo31
|
UTSW |
8 |
122,285,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8116:Fbxo31
|
UTSW |
8 |
122,287,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R8284:Fbxo31
|
UTSW |
8 |
122,287,181 (GRCm39) |
missense |
probably benign |
0.01 |
R8726:Fbxo31
|
UTSW |
8 |
122,282,014 (GRCm39) |
nonsense |
probably null |
|
R8867:Fbxo31
|
UTSW |
8 |
122,281,967 (GRCm39) |
missense |
probably benign |
|
R9081:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9082:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9093:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9094:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9095:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9098:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9667:Fbxo31
|
UTSW |
8 |
122,305,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |