Incidental Mutation 'IGL02551:Fbxo31'
| ID |
298100 |
| 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 # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122293083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 101
(Y101N)
|
| 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: Y101N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: Y101N
| 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: 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: Y98N
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,800,006 (GRCm39) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,554,599 (GRCm39) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,553 (GRCm39) |
E465G |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,465,485 (GRCm39) |
S80C |
probably damaging |
Het |
| Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm39) |
D40G |
probably benign |
Het |
| Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
possibly 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 |
|
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 |
Incidental Mutation