Incidental Mutation 'IGL00983:Fbxo31'
| ID |
28095 |
| 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 # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122281069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 359
(V359D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059018]
[ENSMUST00000127664]
|
| AlphaFold |
Q3TQF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059018
AA Change: V359D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: V359D
| 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
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fbxo31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02155:Fbxo31
|
APN |
8 |
122,285,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation