Incidental Mutation 'R8306:Fbxo44'
ID |
641057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo44
|
Ensembl Gene |
ENSMUSG00000029001 |
Gene Name |
F-box protein 44 |
Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
MMRRC Submission |
067792-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8306 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 148243089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 57
(I57T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047951]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000122913]
[ENSMUST00000129253]
[ENSMUST00000151127]
[ENSMUST00000151246]
[ENSMUST00000167160]
[ENSMUST00000172472]
[ENSMUST00000173352]
|
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 benign
Transcript: ENSMUST00000057907
AA Change: I57T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000054022 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105705
AA Change: I57T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101330 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
196 |
2.79e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122913
AA Change: I57T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120874 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
Pfam:FBA
|
68 |
115 |
3e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129253
AA Change: I57T
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117013 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
213 |
1.15e-57 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151127
AA Change: I57T
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134064 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
235 |
4.09e-63 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151246
AA Change: I57T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114571 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
231 |
1.43e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153703
|
SMART Domains |
Protein: ENSMUSP00000115937 Gene: ENSMUSG00000029001
Domain | Start | End | E-Value | Type |
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167160
AA Change: I57T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000126551 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172472
AA Change: I57T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133966 Gene: ENSMUSG00000029001 AA Change: I57T
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
Pfam:FBA
|
68 |
126 |
3.4e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173352
AA Change: I110T
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000134624 Gene: ENSMUSG00000029001 AA Change: I110T
Domain | Start | End | E-Value | Type |
FBOX
|
62 |
103 |
1.37e-2 |
SMART |
FBA
|
121 |
254 |
3.86e-50 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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. 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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
A |
11: 101,302,194 (GRCm39) |
V158F |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,434,409 (GRCm39) |
C22* |
probably null |
Het |
Adam1b |
T |
C |
5: 121,641,212 (GRCm39) |
|
probably benign |
Het |
Ambn |
G |
A |
5: 88,607,281 (GRCm39) |
E50K |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,873,259 (GRCm39) |
D14G |
probably benign |
Het |
Asphd1 |
C |
T |
7: 126,547,784 (GRCm39) |
R173H |
probably damaging |
Het |
Atr |
A |
T |
9: 95,802,423 (GRCm39) |
T1772S |
|
Het |
Best3 |
T |
C |
10: 116,838,515 (GRCm39) |
L191P |
probably damaging |
Het |
Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
Borcs6 |
T |
C |
11: 68,950,646 (GRCm39) |
L8P |
probably benign |
Het |
Brca1 |
T |
G |
11: 101,416,463 (GRCm39) |
Q557P |
probably damaging |
Het |
Brca2 |
G |
A |
5: 150,460,128 (GRCm39) |
E468K |
possibly damaging |
Het |
Capza2 |
T |
A |
6: 17,637,131 (GRCm39) |
L4Q |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,804,228 (GRCm39) |
Y918* |
probably null |
Het |
Ccdc163 |
T |
C |
4: 116,567,472 (GRCm39) |
L67P |
probably damaging |
Het |
Ccdc172 |
C |
A |
19: 58,525,022 (GRCm39) |
Q160K |
probably damaging |
Het |
Ccp110 |
T |
A |
7: 118,321,903 (GRCm39) |
D519E |
probably benign |
Het |
Cd300ld2 |
T |
C |
11: 114,904,648 (GRCm39) |
Q73R |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,236,496 (GRCm39) |
D608V |
|
Het |
Cfap69 |
T |
G |
5: 5,654,287 (GRCm39) |
Y549S |
probably benign |
Het |
Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
Clu |
A |
C |
14: 66,217,211 (GRCm39) |
Q348P |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,473,649 (GRCm39) |
N1153K |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,888,849 (GRCm39) |
|
probably null |
Het |
Col6a6 |
A |
T |
9: 105,661,272 (GRCm39) |
I279N |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,402,259 (GRCm39) |
D1153G |
possibly damaging |
Het |
Dpyd |
A |
G |
3: 119,205,822 (GRCm39) |
K888E |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,287,656 (GRCm39) |
I1208T |
possibly damaging |
Het |
Epha1 |
T |
C |
6: 42,335,722 (GRCm39) |
I972V |
probably damaging |
Het |
Fam13c |
C |
T |
10: 70,388,983 (GRCm39) |
T503I |
probably benign |
Het |
Fbxo43 |
T |
A |
15: 36,162,013 (GRCm39) |
Q398L |
probably benign |
Het |
Flnc |
T |
C |
6: 29,449,369 (GRCm39) |
I1422T |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,746,076 (GRCm39) |
L138P |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,338,840 (GRCm39) |
K378E |
possibly damaging |
Het |
Ganc |
T |
A |
2: 120,252,560 (GRCm39) |
D128E |
probably benign |
Het |
Gm19965 |
T |
C |
1: 116,749,515 (GRCm39) |
S399P |
|
Het |
H2-Q1 |
A |
T |
17: 35,539,997 (GRCm39) |
K89* |
probably null |
Het |
H2-Q2 |
A |
T |
17: 35,561,301 (GRCm39) |
|
probably benign |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Homer2 |
T |
A |
7: 81,274,014 (GRCm39) |
S125C |
possibly damaging |
Het |
Hormad2 |
T |
C |
11: 4,358,714 (GRCm39) |
K231R |
probably benign |
Het |
Kif17 |
A |
C |
4: 138,005,220 (GRCm39) |
K262Q |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,761,444 (GRCm39) |
S279N |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,741,450 (GRCm39) |
N441D |
probably damaging |
Het |
Lta4h |
G |
T |
10: 93,318,126 (GRCm39) |
L515F |
possibly damaging |
Het |
Mavs |
T |
C |
2: 131,088,470 (GRCm39) |
S425P |
probably benign |
Het |
Mcat |
A |
C |
15: 83,439,592 (GRCm39) |
D99E |
probably damaging |
Het |
Nav2 |
C |
A |
7: 49,195,765 (GRCm39) |
T1047K |
probably benign |
Het |
Neb |
T |
A |
2: 52,099,657 (GRCm39) |
Y4731F |
probably damaging |
Het |
Nectin4 |
G |
C |
1: 171,211,325 (GRCm39) |
R283P |
probably null |
Het |
Notch3 |
G |
A |
17: 32,377,086 (GRCm39) |
T273I |
probably damaging |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or5i1 |
A |
T |
2: 87,613,830 (GRCm39) |
*317C |
probably null |
Het |
Or6b2b |
T |
G |
1: 92,419,247 (GRCm39) |
I77L |
possibly damaging |
Het |
Or6z7 |
T |
A |
7: 6,483,868 (GRCm39) |
I96F |
possibly damaging |
Het |
Pcdha12 |
A |
T |
18: 37,155,638 (GRCm39) |
T786S |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,692,186 (GRCm39) |
K520E |
probably benign |
Het |
Piezo2 |
A |
C |
18: 63,208,801 (GRCm39) |
L1404R |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,792,416 (GRCm39) |
S1321G |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,128,897 (GRCm39) |
V464A |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,147 (GRCm39) |
F193S |
probably damaging |
Het |
Samd4 |
G |
A |
14: 47,122,374 (GRCm39) |
V33I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,357 (GRCm39) |
L839P |
probably damaging |
Het |
Slc6a17 |
C |
A |
3: 107,380,985 (GRCm39) |
V507L |
probably benign |
Het |
Stradb |
C |
A |
1: 59,030,356 (GRCm39) |
N203K |
unknown |
Het |
Tenm2 |
T |
C |
11: 35,960,196 (GRCm39) |
T1044A |
possibly damaging |
Het |
Tmem245 |
A |
C |
4: 56,886,037 (GRCm39) |
W860G |
probably damaging |
Het |
Tpst2 |
G |
A |
5: 112,455,803 (GRCm39) |
R114H |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,036,460 (GRCm39) |
D920N |
possibly damaging |
Het |
Vmn1r59 |
T |
A |
7: 5,456,966 (GRCm39) |
I265L |
probably benign |
Het |
Zbtb20 |
A |
C |
16: 43,439,100 (GRCm39) |
D667A |
probably damaging |
Het |
Zbtb4 |
T |
A |
11: 69,668,309 (GRCm39) |
I344N |
probably damaging |
Het |
Zdbf2 |
T |
A |
1: 63,343,234 (GRCm39) |
C538S |
possibly damaging |
Het |
Zmym6 |
A |
T |
4: 127,016,355 (GRCm39) |
H712L |
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 |
R5108:Fbxo44
|
UTSW |
4 |
148,243,020 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AATACCCACAGGAGCTGGCTAG -3'
Sequencing Primer
(F):5'- GCTTTGAGTCAGAACCTCATGTAGC -3'
(R):5'- TAGGAGACGCCACCATGG -3'
|
Posted On |
2020-07-28 |