Incidental Mutation 'R8284:Fbxo31'
| ID |
638375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo31
|
| Ensembl Gene |
ENSMUSG00000052934 |
| Gene Name |
F-box protein 31 |
| Synonyms |
Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik |
| MMRRC Submission |
067707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122287181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 131
(I131V)
|
| 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: I131V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: I131V
| 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 |
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,034,438 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,766,161 (GRCm39) |
S1328T |
unknown |
Het |
| Aff4 |
A |
G |
11: 53,295,379 (GRCm39) |
K860E |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,115,250 (GRCm39) |
H745P |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,413 (GRCm39) |
T31A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,938 (GRCm39) |
V388L |
probably benign |
Het |
| Celsr3 |
G |
T |
9: 108,723,612 (GRCm39) |
M2874I |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,057,239 (GRCm39) |
D550E |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,648,455 (GRCm39) |
T918A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,601,376 (GRCm39) |
E3670A |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,413,893 (GRCm39) |
V99A |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,123,177 (GRCm39) |
V471A |
probably benign |
Het |
| H60b |
T |
A |
10: 22,162,971 (GRCm39) |
L182Q |
probably benign |
Het |
| Hbp1 |
G |
A |
12: 31,987,625 (GRCm39) |
H188Y |
probably damaging |
Het |
| Itga4 |
C |
T |
2: 79,151,783 (GRCm39) |
T862I |
probably benign |
Het |
| Kcnmb4 |
T |
A |
10: 116,254,158 (GRCm39) |
K206N |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,042,243 (GRCm39) |
F8S |
possibly damaging |
Het |
| Mrpl2 |
C |
A |
17: 46,958,435 (GRCm39) |
Y72* |
probably null |
Het |
| Nars2 |
C |
A |
7: 96,600,845 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,886,458 (GRCm39) |
S607P |
possibly damaging |
Het |
| Oas1d |
C |
T |
5: 121,057,221 (GRCm39) |
R276* |
probably null |
Het |
| Or12d13 |
C |
T |
17: 37,647,587 (GRCm39) |
V179I |
probably benign |
Het |
| Or1l8 |
T |
A |
2: 36,818,018 (GRCm39) |
Y36F |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,329,011 (GRCm38) |
L300Q |
possibly damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,002 (GRCm39) |
T210A |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,685 (GRCm39) |
S182P |
possibly damaging |
Het |
| Piwil4 |
G |
T |
9: 14,638,774 (GRCm39) |
N297K |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,129,789 (GRCm39) |
T1845A |
probably benign |
Het |
| Pml |
T |
C |
9: 58,136,643 (GRCm39) |
N579D |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,950,201 (GRCm39) |
S3P |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,676,695 (GRCm39) |
D136E |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,285,994 (GRCm39) |
Q360* |
probably null |
Het |
| Ralgps2 |
A |
G |
1: 156,655,718 (GRCm39) |
I402T |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,318,909 (GRCm39) |
D1123E |
|
Het |
| Sdha |
A |
T |
13: 74,479,416 (GRCm39) |
|
probably null |
Het |
| Senp8 |
G |
A |
9: 59,644,814 (GRCm39) |
T114I |
|
Het |
| Setx |
C |
T |
2: 29,035,348 (GRCm39) |
T611I |
possibly damaging |
Het |
| Shc1 |
T |
G |
3: 89,329,215 (GRCm39) |
S20A |
possibly damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,727,275 (GRCm39) |
I98V |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,989,538 (GRCm39) |
E294G |
probably damaging |
Het |
| Sox18 |
G |
A |
2: 181,312,751 (GRCm39) |
P127S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,007,387 (GRCm39) |
T206A |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,280,330 (GRCm39) |
S358P |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,289,325 (GRCm39) |
L413F |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,544,365 (GRCm39) |
T757A |
probably benign |
Het |
| Tmem232 |
T |
A |
17: 65,709,990 (GRCm39) |
I433F |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,712 (GRCm39) |
K300* |
probably null |
Het |
| Trbv20 |
C |
T |
6: 41,165,782 (GRCm39) |
A69V |
probably damaging |
Het |
| Trim12a |
A |
T |
7: 103,955,282 (GRCm39) |
L147Q |
probably damaging |
Het |
| Tuba8 |
G |
A |
6: 121,199,736 (GRCm39) |
S140N |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,454 (GRCm39) |
N835K |
possibly damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,539 (GRCm39) |
G202D |
probably benign |
Het |
| Ythdc1 |
T |
G |
5: 86,964,325 (GRCm39) |
S45A |
probably benign |
Het |
| Zfp1002 |
T |
C |
2: 150,097,276 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGACCAGAAGACTGCTTAC -3'
(R):5'- AGCCATCTGTGACTCCATGG -3'
Sequencing Primer
(F):5'- CAATAAATCTCTGTTCACTCCGAAAG -3'
(R):5'- GTGACTCCATGGCCTTCAGGATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation