Incidental Mutation 'R1889:Fbxo44'
ID |
209807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo44
|
Ensembl Gene |
ENSMUSG00000029001 |
Gene Name |
F-box protein 44 |
Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
MMRRC Submission |
039910-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1889 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 148240726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 220
(R220S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000047951]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000151127]
[ENSMUST00000173352]
[ENSMUST00000151246]
[ENSMUST00000167160]
[ENSMUST00000129253]
[ENSMUST00000168503]
[ENSMUST00000132083]
[ENSMUST00000134261]
[ENSMUST00000152098]
[ENSMUST00000172472]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030858
|
SMART Domains |
Protein: ENSMUSP00000030858 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
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: ENSMUST00000056965
|
SMART Domains |
Protein: ENSMUSP00000062348 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057907
AA Change: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054022 Gene: ENSMUSG00000029001 AA Change: R167S
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: ENSMUST00000105705
AA Change: A126P
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000101330 Gene: ENSMUSG00000029001 AA Change: A126P
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: ENSMUST00000105706
|
SMART Domains |
Protein: ENSMUSP00000101331 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122913
|
SMART Domains |
Protein: ENSMUSP00000120874 Gene: ENSMUSG00000029001
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: ENSMUST00000151127
AA Change: R167S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134064 Gene: ENSMUSG00000029001 AA Change: R167S
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: ENSMUST00000173352
AA Change: R220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134624 Gene: ENSMUSG00000029001 AA Change: R220S
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: ENSMUST00000151246
AA Change: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114571 Gene: ENSMUSG00000029001 AA Change: R167S
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: ENSMUST00000167160
AA Change: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126551 Gene: ENSMUSG00000029001 AA Change: R167S
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: ENSMUST00000129253
AA Change: R167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117013 Gene: ENSMUSG00000029001 AA Change: R167S
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
213 |
1.15e-57 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153703
AA Change: R99S
|
SMART Domains |
Protein: ENSMUSP00000115937 Gene: ENSMUSG00000029001 AA Change: R99S
Domain | Start | End | E-Value | Type |
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168503
|
SMART Domains |
Protein: ENSMUSP00000130188 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132083
|
SMART Domains |
Protein: ENSMUSP00000120431 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134261
|
SMART Domains |
Protein: ENSMUSP00000123132 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
228 |
1.89e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152098
|
SMART Domains |
Protein: ENSMUSP00000121379 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
SMART |
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172472
|
SMART Domains |
Protein: ENSMUSP00000133966 Gene: ENSMUSG00000029001
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
Pfam:FBA
|
68 |
126 |
3.4e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.6806 |
Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.6%
- 20x: 88.0%
|
Validation Efficiency |
97% (103/106) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
A |
G |
9: 89,034,815 (GRCm39) |
|
noncoding transcript |
Het |
9130008F23Rik |
T |
C |
17: 41,191,193 (GRCm39) |
R79G |
probably damaging |
Het |
Aco1 |
A |
T |
4: 40,164,607 (GRCm39) |
|
probably null |
Het |
Acp6 |
C |
T |
3: 97,073,201 (GRCm39) |
R81W |
probably damaging |
Het |
Agbl1 |
A |
C |
7: 76,239,129 (GRCm39) |
Y543S |
probably damaging |
Het |
Anapc7 |
T |
C |
5: 122,571,539 (GRCm39) |
W205R |
probably damaging |
Het |
Ap1g2 |
T |
A |
14: 55,338,886 (GRCm39) |
M532L |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,647,470 (GRCm39) |
|
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,976,624 (GRCm39) |
F462S |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,332,886 (GRCm39) |
|
probably null |
Het |
AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cadm2 |
T |
C |
16: 66,679,683 (GRCm39) |
D50G |
probably damaging |
Het |
Ccdc81 |
G |
A |
7: 89,531,502 (GRCm39) |
Q324* |
probably null |
Het |
Cd300lf |
A |
G |
11: 115,011,206 (GRCm39) |
V178A |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,298,791 (GRCm39) |
V476A |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,796,182 (GRCm39) |
V225A |
probably benign |
Het |
Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
Cfap54 |
A |
G |
10: 92,870,572 (GRCm39) |
S684P |
possibly damaging |
Het |
Clip1 |
C |
A |
5: 123,791,559 (GRCm39) |
V204F |
probably damaging |
Het |
Cnpy4 |
A |
G |
5: 138,191,102 (GRCm39) |
E226G |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,486,356 (GRCm39) |
M335V |
probably benign |
Het |
Dnmt3b |
C |
A |
2: 153,518,679 (GRCm39) |
A614E |
probably benign |
Het |
Dpm1 |
C |
T |
2: 168,059,655 (GRCm39) |
R147Q |
possibly damaging |
Het |
Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
Engase |
T |
C |
11: 118,369,759 (GRCm39) |
F57S |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
Gkn2 |
T |
A |
6: 87,355,137 (GRCm39) |
Y115* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,481,926 (GRCm39) |
S246P |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
Herc2 |
C |
T |
7: 55,839,561 (GRCm39) |
S3357L |
possibly damaging |
Het |
Herc6 |
T |
A |
6: 57,639,060 (GRCm39) |
Y840* |
probably null |
Het |
Hoxa10 |
GGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTG |
6: 52,211,472 (GRCm39) |
|
probably benign |
Het |
Ift122 |
T |
C |
6: 115,871,382 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
A |
T |
10: 77,384,457 (GRCm39) |
N193Y |
possibly damaging |
Het |
Itgb5 |
T |
G |
16: 33,730,839 (GRCm39) |
I65S |
probably damaging |
Het |
Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
Kcnt2 |
A |
T |
1: 140,512,031 (GRCm39) |
H995L |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,918,608 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
C |
7: 79,360,211 (GRCm39) |
Y342C |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,877 (GRCm39) |
V529A |
possibly damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,383 (GRCm39) |
D475G |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,547,567 (GRCm39) |
Y384H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,809,179 (GRCm39) |
C2463* |
probably null |
Het |
Marchf6 |
T |
C |
15: 31,459,339 (GRCm39) |
E909G |
possibly damaging |
Het |
Mrc1 |
A |
T |
2: 14,313,488 (GRCm39) |
|
probably null |
Het |
Mtrex |
T |
C |
13: 113,024,024 (GRCm39) |
N707S |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,041,560 (GRCm39) |
I212F |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,009 (GRCm39) |
E1531G |
possibly damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Opa1 |
T |
C |
16: 29,444,403 (GRCm39) |
V863A |
possibly damaging |
Het |
Or5ac22 |
T |
G |
16: 59,135,326 (GRCm39) |
Y148S |
probably damaging |
Het |
Pabpc4l |
A |
T |
3: 46,400,798 (GRCm39) |
M282K |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,722,684 (GRCm39) |
D1336G |
probably damaging |
Het |
Phlpp1 |
T |
C |
1: 106,246,580 (GRCm39) |
V590A |
possibly damaging |
Het |
Rbck1 |
T |
A |
2: 152,160,276 (GRCm39) |
T468S |
probably damaging |
Het |
Ripor2 |
T |
A |
13: 24,877,870 (GRCm39) |
I290N |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,346 (GRCm39) |
L457P |
probably damaging |
Het |
Rtn1 |
C |
A |
12: 72,351,184 (GRCm39) |
A342S |
possibly damaging |
Het |
Sema3d |
A |
G |
5: 12,534,988 (GRCm39) |
|
probably null |
Het |
Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,668 (GRCm39) |
V148A |
probably damaging |
Het |
Shank2 |
C |
A |
7: 143,740,595 (GRCm39) |
S568* |
probably null |
Het |
Slc10a4 |
T |
C |
5: 73,169,490 (GRCm39) |
S372P |
possibly damaging |
Het |
Slc10a5 |
T |
C |
3: 10,400,550 (GRCm39) |
T37A |
probably benign |
Het |
Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
Slc6a20b |
G |
T |
9: 123,461,269 (GRCm39) |
D52E |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,601,182 (GRCm39) |
M661T |
probably benign |
Het |
Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
Steap4 |
G |
T |
5: 8,025,892 (GRCm39) |
R151L |
probably damaging |
Het |
Sun5 |
T |
A |
2: 153,707,915 (GRCm39) |
I107L |
probably benign |
Het |
Tacc1 |
C |
T |
8: 25,665,269 (GRCm39) |
V488M |
probably damaging |
Het |
Tgs1 |
A |
G |
4: 3,614,928 (GRCm39) |
T829A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,914,799 (GRCm39) |
E1929G |
probably damaging |
Het |
Tssc4 |
A |
C |
7: 142,624,292 (GRCm39) |
Q200P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,588,876 (GRCm39) |
W21398R |
probably damaging |
Het |
Usp50 |
C |
T |
2: 126,619,818 (GRCm39) |
|
probably null |
Het |
Usp9y |
A |
T |
Y: 1,448,829 (GRCm39) |
|
probably null |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Zfat |
T |
C |
15: 67,973,388 (GRCm39) |
T1118A |
probably benign |
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 |
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 |
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'- TCTGTTGTCTAAGCTGGAAGC -3'
(R):5'- CTCAAGGCTGAAGGGTATTGGG -3'
Sequencing Primer
(F):5'- CTATTCTTCTACTAAAGCAAGTGAGG -3'
(R):5'- GCCCCCTATCTCCCAGG -3'
|
Posted On |
2014-06-30 |