Incidental Mutation 'R6664:Fbxo45'
| ID |
526920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo45
|
| Ensembl Gene |
ENSMUSG00000035764 |
| Gene Name |
F-box protein 45 |
| Synonyms |
2610017J04Rik |
| MMRRC Submission |
044784-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R6664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32048930-32065843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32057234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 220
(N220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042732]
|
| AlphaFold |
Q8K3B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042732
AA Change: N220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764
AA Change: N220S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
FBOX
|
39 |
82 |
4e-4 |
SMART |
|
SPRY
|
152 |
284 |
1.87e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with respiratory failure, impaired motor neuron innervation and neuromuscular synapse morphology, abnormal sensory neuron projections, absence of several of the major axon tracts in the brain, and impaired neuron migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,503,969 (GRCm39) |
*394W |
probably null |
Het |
| AU040320 |
A |
T |
4: 126,729,443 (GRCm39) |
Y535F |
probably damaging |
Het |
| Auh |
G |
C |
13: 53,052,703 (GRCm39) |
S138W |
probably damaging |
Het |
| Bmp2k |
A |
T |
5: 97,235,989 (GRCm39) |
K1137N |
probably benign |
Het |
| Btn1a1 |
A |
G |
13: 23,643,490 (GRCm39) |
Y320H |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,315,966 (GRCm39) |
Q479* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,743,759 (GRCm39) |
S399T |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,283 (GRCm39) |
L83P |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,267,326 (GRCm39) |
M302V |
probably benign |
Het |
| Fgb |
A |
T |
3: 82,954,066 (GRCm39) |
S57R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,289,824 (GRCm39) |
V134A |
probably damaging |
Het |
| Gatad2a |
A |
G |
8: 70,370,139 (GRCm39) |
L189P |
probably damaging |
Het |
| Ifitm7 |
T |
C |
16: 13,801,613 (GRCm39) |
T49A |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,655,393 (GRCm39) |
T601A |
probably damaging |
Het |
| Jmjd4 |
T |
C |
11: 59,341,245 (GRCm39) |
F59L |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,907,395 (GRCm39) |
S1323L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,610 (GRCm39) |
E732G |
probably benign |
Het |
| Nr4a3 |
G |
A |
4: 48,056,006 (GRCm39) |
R344Q |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,110 (GRCm39) |
N171S |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,395 (GRCm39) |
S240R |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 98,976,591 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prl3a1 |
C |
A |
13: 27,454,194 (GRCm39) |
Y57* |
probably null |
Het |
| Ripor2 |
A |
T |
13: 24,859,803 (GRCm39) |
I164F |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,846,757 (GRCm39) |
E146G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,942 (GRCm39) |
R581C |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,746 (GRCm39) |
D747E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp945 |
A |
G |
17: 23,071,339 (GRCm39) |
S187P |
probably damaging |
Het |
|
| Other mutations in Fbxo45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Fbxo45
|
APN |
16 |
32,052,093 (GRCm39) |
splice site |
probably null |
|
|
R0373:Fbxo45
|
UTSW |
16 |
32,057,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1966:Fbxo45
|
UTSW |
16 |
32,052,048 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2056:Fbxo45
|
UTSW |
16 |
32,057,346 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5150:Fbxo45
|
UTSW |
16 |
32,065,524 (GRCm39) |
unclassified |
probably benign |
|
|
R7467:Fbxo45
|
UTSW |
16 |
32,057,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Fbxo45
|
UTSW |
16 |
32,065,533 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCGTGAACTTGAACC -3'
(R):5'- AAGATTGGTTTCAGTGAGGGCC -3'
Sequencing Primer
(F):5'- CTCTTTGGCCTGTACAGAGAAAGC -3'
(R):5'- TTTCAGTGAGGGCCGCCAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation