Incidental Mutation 'R0990:Fbxo24'
| ID |
97610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo24
|
| Ensembl Gene |
ENSMUSG00000089984 |
| Gene Name |
F-box protein 24 |
| Synonyms |
4933422D21Rik, Fbx24 |
| MMRRC Submission |
039110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137610767-137623340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137616701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 394
(N394S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031732]
[ENSMUST00000111002]
[ENSMUST00000124693]
[ENSMUST00000136028]
[ENSMUST00000155251]
|
| AlphaFold |
Q9D417 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031732
AA Change: N394S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: N394S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
29 |
69 |
1.48e-7 |
SMART |
|
Pfam:RCC1
|
386 |
432 |
2.2e-10 |
PFAM |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111002
AA Change: N255S
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: N255S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
247 |
293 |
4.2e-11 |
PFAM |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124693
|
| SMART Domains |
Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CUB
|
1 |
63 |
2.4e-12 |
PFAM |
|
Pfam:CUB
|
76 |
124 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155251
|
| SMART Domains |
Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
8 |
111 |
1.92e-21 |
SMART |
|
Pfam:CUB
|
121 |
169 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196660
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
| Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,940,870 (GRCm39) |
C87S |
probably damaging |
Het |
| Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
| Or5aq1 |
T |
A |
2: 86,966,086 (GRCm39) |
H193L |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
| Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,379,450 (GRCm39) |
I439N |
probably damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,070,417 (GRCm39) |
I374F |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,875,576 (GRCm39) |
E143G |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
probably benign |
Het |
|
| Other mutations in Fbxo24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Fbxo24
|
APN |
5 |
137,622,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Fbxo24
|
APN |
5 |
137,611,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Fbxo24
|
APN |
5 |
137,611,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Fbxo24
|
APN |
5 |
137,622,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02330:Fbxo24
|
APN |
5 |
137,619,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Fbxo24
|
UTSW |
5 |
137,620,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Fbxo24
|
UTSW |
5 |
137,620,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Fbxo24
|
UTSW |
5 |
137,620,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Fbxo24
|
UTSW |
5 |
137,622,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1331:Fbxo24
|
UTSW |
5 |
137,617,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Fbxo24
|
UTSW |
5 |
137,611,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5483:Fbxo24
|
UTSW |
5 |
137,617,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5487:Fbxo24
|
UTSW |
5 |
137,617,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5954:Fbxo24
|
UTSW |
5 |
137,617,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Fbxo24
|
UTSW |
5 |
137,617,912 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6250:Fbxo24
|
UTSW |
5 |
137,619,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Fbxo24
|
UTSW |
5 |
137,611,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Fbxo24
|
UTSW |
5 |
137,619,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Fbxo24
|
UTSW |
5 |
137,617,885 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8017:Fbxo24
|
UTSW |
5 |
137,611,073 (GRCm39) |
missense |
probably benign |
|
|
R8775:Fbxo24
|
UTSW |
5 |
137,611,213 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8775-TAIL:Fbxo24
|
UTSW |
5 |
137,611,213 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9135:Fbxo24
|
UTSW |
5 |
137,622,526 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9357:Fbxo24
|
UTSW |
5 |
137,611,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0064:Fbxo24
|
UTSW |
5 |
137,619,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fbxo24
|
UTSW |
5 |
137,619,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fbxo24
|
UTSW |
5 |
137,619,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCAGACCTTCTCGGACAAGAC -3'
(R):5'- TTGGGACCCTTCAAGCCTTTGAC -3'
Sequencing Primer
(F):5'- CCGGGTGTTATAAGTGATGGG -3'
(R):5'- CTGCCAAGGTAGGATGCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation