Incidental Mutation 'R5108:Fbxo44'
| ID |
393658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
042696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5108 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148243020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 133
(N133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047951]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000122913]
[ENSMUST00000129253]
[ENSMUST00000151127]
[ENSMUST00000151246]
[ENSMUST00000173352]
[ENSMUST00000167160]
[ENSMUST00000172472]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047951
|
| SMART Domains |
Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
50 |
97 |
3.8e-9 |
PFAM |
|
Pfam:F-box-like
|
51 |
97 |
9.3e-8 |
PFAM |
|
FBA
|
114 |
297 |
3.81e-104 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057907
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105705
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
196 |
2.79e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122913
AA Change: N80S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
Pfam:FBA
|
68 |
115 |
3e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129253
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
213 |
1.15e-57 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151127
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
235 |
4.09e-63 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151246
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
231 |
1.43e-85 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173352
AA Change: N133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: N133S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
62 |
103 |
1.37e-2 |
SMART |
|
FBA
|
121 |
254 |
3.86e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167160
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172472
AA Change: N80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
Pfam:FBA
|
68 |
126 |
3.4e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153703
AA Change: N12S
|
| SMART Domains |
Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
AA Change: N12S
| Domain | Start | End | E-Value | Type |
|---|
|
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
| Meta Mutation Damage Score |
0.9095 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (79/80) |
| 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. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
| Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
| Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
| Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
| C1ra |
A |
T |
6: 124,499,881 (GRCm39) |
Y689F |
probably damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
| Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
| Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
| Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,515 (GRCm39) |
H223Q |
probably benign |
Het |
| Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,085,721 (GRCm39) |
I208N |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
| Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
| Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
| Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
| Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
| Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
| Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,013,453 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
| Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
| Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
| Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
| Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
| Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
| Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
| Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
| Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
| Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
probably damaging |
Het |
|
| Other mutations in Fbxo44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
trompo
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
|
R0040:Fbxo44
|
UTSW |
4 |
148,243,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Fbxo44
|
UTSW |
4 |
148,243,266 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0850:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0899:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Fbxo44
|
UTSW |
4 |
148,240,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1423:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Fbxo44
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
|
R3774:Fbxo44
|
UTSW |
4 |
148,241,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3834:Fbxo44
|
UTSW |
4 |
148,240,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Fbxo44
|
UTSW |
4 |
148,238,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Fbxo44
|
UTSW |
4 |
148,240,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Fbxo44
|
UTSW |
4 |
148,240,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5344:Fbxo44
|
UTSW |
4 |
148,238,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5423:Fbxo44
|
UTSW |
4 |
148,238,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Fbxo44
|
UTSW |
4 |
148,241,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Fbxo44
|
UTSW |
4 |
148,243,010 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6132:Fbxo44
|
UTSW |
4 |
148,240,565 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6498:Fbxo44
|
UTSW |
4 |
148,238,882 (GRCm39) |
|
|
|
|
R7085:Fbxo44
|
UTSW |
4 |
148,243,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7142:Fbxo44
|
UTSW |
4 |
148,243,269 (GRCm39) |
missense |
unknown |
|
|
R7374:Fbxo44
|
UTSW |
4 |
148,241,094 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7679:Fbxo44
|
UTSW |
4 |
148,238,089 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8306:Fbxo44
|
UTSW |
4 |
148,243,089 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8899:Fbxo44
|
UTSW |
4 |
148,238,078 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Fbxo44
|
UTSW |
4 |
148,240,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTGTGAGGCCTCATTTC -3'
(R):5'- CTGGAACTGTTCATCCACATCC -3'
Sequencing Primer
(F):5'- GCTTTGAGTCAGAACCTCATGTAGC -3'
(R):5'- TCCCAGCTCGCCAACTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation