Incidental Mutation 'IGL03092:Fbxo31'
ID |
418421 |
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 # |
IGL03092
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122286757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 174
(F174L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059018]
[ENSMUST00000127664]
|
AlphaFold |
Q3TQF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059018
AA Change: F174L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057573 Gene: ENSMUSG00000052934 AA Change: F174L
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 |
noncoding transcript
Transcript: ENSMUST00000181663
|
SMART Domains |
Protein: ENSMUSP00000137907 Gene: ENSMUSG00000052934
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 |
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
low complexity region
|
190 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212985
AA Change: F200L
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
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 |
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 |
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 |
2016-08-02 |