Incidental Mutation 'R6347:Fbxo31'
| ID |
533170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo31
|
| Ensembl Gene |
ENSMUSG00000052934 |
| Gene Name |
F-box protein 31 |
| Synonyms |
Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik |
| MMRRC Submission |
044501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6347 (G1)
|
| Quality Score |
58.0073 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 122305198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 99
(E99D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059018]
|
| AlphaFold |
Q3TQF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059018
AA Change: E99D
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: E99D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
| Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
| Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
| Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
| Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
| Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
| Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
| Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
| Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
| Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
| Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
| Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTATTCCTGCACCGGGAG -3'
(R):5'- TACAAGGGCGTGGACCTAAC -3'
Sequencing Primer
(F):5'- CGGGAGGGTGGGCTGTAG -3'
(R):5'- TTGAGGAGCCTGCAAGC -3'
|
| Posted On |
2018-09-06 |
Incidental Mutation