Incidental Mutation 'R7142:Fbxo44'
ID |
553458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo44
|
Ensembl Gene |
ENSMUSG00000029001 |
Gene Name |
F-box protein 44 |
Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
MMRRC Submission |
045250-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 148243269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 50
(G50E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047951]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000122913]
[ENSMUST00000129253]
[ENSMUST00000151127]
[ENSMUST00000173352]
[ENSMUST00000151246]
[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 benign
Transcript: ENSMUST00000057907
|
SMART Domains |
Protein: ENSMUSP00000054022 Gene: ENSMUSG00000029001
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
|
SMART Domains |
Protein: ENSMUSP00000101330 Gene: ENSMUSG00000029001
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
|
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 benign
Transcript: ENSMUST00000129253
|
SMART Domains |
Protein: ENSMUSP00000117013 Gene: ENSMUSG00000029001
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
|
SMART Domains |
Protein: ENSMUSP00000134064 Gene: ENSMUSG00000029001
Domain | Start | End | E-Value | Type |
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
FBA
|
68 |
235 |
4.09e-63 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173352
AA Change: G50E
|
SMART Domains |
Protein: ENSMUSP00000134624 Gene: ENSMUSG00000029001 AA Change: G50E
Domain | Start | End | E-Value | Type |
FBOX
|
62 |
103 |
1.37e-2 |
SMART |
FBA
|
121 |
254 |
3.86e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151246
|
SMART Domains |
Protein: ENSMUSP00000114571 Gene: ENSMUSG00000029001
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
|
SMART Domains |
Protein: ENSMUSP00000126551 Gene: ENSMUSG00000029001
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
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (63/64) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
A |
10: 78,903,446 (GRCm39) |
H290L |
probably damaging |
Het |
Abca1 |
T |
A |
4: 53,082,050 (GRCm39) |
S737C |
probably damaging |
Het |
Abca14 |
G |
C |
7: 119,850,406 (GRCm39) |
V753L |
possibly damaging |
Het |
Adgrl1 |
C |
T |
8: 84,663,829 (GRCm39) |
H1099Y |
probably benign |
Het |
Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
Aldh1l1 |
G |
A |
6: 90,540,398 (GRCm39) |
D228N |
probably damaging |
Het |
Cacna1e |
G |
T |
1: 154,288,230 (GRCm39) |
Q1883K |
probably damaging |
Het |
Caskin2 |
A |
G |
11: 115,697,562 (GRCm39) |
Y125H |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,527,192 (GRCm39) |
Y139N |
probably damaging |
Het |
Cd93 |
C |
T |
2: 148,283,725 (GRCm39) |
W540* |
probably null |
Het |
Cdh3 |
G |
A |
8: 107,271,860 (GRCm39) |
|
probably null |
Het |
Chmp2b |
G |
A |
16: 65,343,794 (GRCm39) |
Q88* |
probably null |
Het |
Cpt1a |
T |
C |
19: 3,425,100 (GRCm39) |
M489T |
probably benign |
Het |
Ctsk |
G |
A |
3: 95,414,259 (GRCm39) |
V274M |
possibly damaging |
Het |
Cyp3a44 |
A |
G |
5: 145,714,771 (GRCm39) |
V460A |
probably benign |
Het |
Cypt4 |
C |
T |
9: 24,536,740 (GRCm39) |
R77* |
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dnah7a |
A |
T |
1: 53,452,927 (GRCm39) |
Y3850* |
probably null |
Het |
Drosha |
A |
T |
15: 12,924,232 (GRCm39) |
T1205S |
possibly damaging |
Het |
Eif3j2 |
T |
C |
18: 43,610,465 (GRCm39) |
E116G |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,213,374 (GRCm39) |
E790G |
probably damaging |
Het |
Fam163b |
C |
T |
2: 27,003,567 (GRCm39) |
R29Q |
probably damaging |
Het |
Foxo3 |
T |
C |
10: 42,150,591 (GRCm39) |
|
probably null |
Het |
Gnal |
C |
T |
18: 67,351,599 (GRCm39) |
P386L |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,654,615 (GRCm39) |
H478Q |
probably benign |
Het |
Grhl2 |
A |
T |
15: 37,279,826 (GRCm39) |
D178V |
probably benign |
Het |
Gtf2i |
C |
A |
5: 134,273,705 (GRCm39) |
V755L |
possibly damaging |
Het |
Hal |
T |
C |
10: 93,336,513 (GRCm39) |
V414A |
possibly damaging |
Het |
Hmx2 |
T |
C |
7: 131,157,465 (GRCm39) |
V193A |
probably damaging |
Het |
Il17a |
T |
A |
1: 20,802,327 (GRCm39) |
M12K |
probably benign |
Het |
Invs |
T |
A |
4: 48,407,696 (GRCm39) |
I557N |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,898,170 (GRCm39) |
H523Q |
probably benign |
Het |
Lrp4 |
T |
A |
2: 91,325,339 (GRCm39) |
I1388N |
probably damaging |
Het |
Mboat4 |
A |
G |
8: 34,587,291 (GRCm39) |
I63V |
probably benign |
Het |
Mcoln2 |
G |
A |
3: 145,889,324 (GRCm39) |
|
probably null |
Het |
Mgat5 |
A |
T |
1: 127,339,924 (GRCm39) |
D435V |
probably damaging |
Het |
Mri1 |
C |
A |
8: 84,983,753 (GRCm39) |
R46L |
probably damaging |
Het |
Mxra8 |
A |
T |
4: 155,927,519 (GRCm39) |
Y409F |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,062,901 (GRCm39) |
R720* |
probably null |
Het |
Ofcc1 |
T |
C |
13: 40,157,538 (GRCm39) |
I887V |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,780,056 (GRCm39) |
I174V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,391 (GRCm39) |
|
probably null |
Het |
P3h1 |
T |
A |
4: 119,104,358 (GRCm39) |
D626E |
probably benign |
Het |
Pde2a |
A |
T |
7: 101,153,857 (GRCm39) |
D485V |
probably damaging |
Het |
Phldb2 |
G |
A |
16: 45,577,539 (GRCm39) |
R1129* |
probably null |
Het |
Pkn1 |
T |
C |
8: 84,420,596 (GRCm39) |
E10G |
possibly damaging |
Het |
Psd2 |
A |
G |
18: 36,113,097 (GRCm39) |
D264G |
possibly damaging |
Het |
Psg29 |
A |
G |
7: 16,944,546 (GRCm39) |
D352G |
probably damaging |
Het |
Rgs14 |
T |
C |
13: 55,527,417 (GRCm39) |
S218P |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,048,379 (GRCm39) |
T380A |
probably benign |
Het |
Septin12 |
T |
C |
16: 4,806,226 (GRCm39) |
T312A |
unknown |
Het |
Skint5 |
A |
T |
4: 113,428,791 (GRCm39) |
V1075E |
unknown |
Het |
Ston2 |
A |
G |
12: 91,614,009 (GRCm39) |
S800P |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,081,564 (GRCm39) |
N157S |
probably damaging |
Het |
Tmem132b |
G |
A |
5: 125,699,737 (GRCm39) |
G133S |
probably damaging |
Het |
Tmie |
A |
T |
9: 110,699,749 (GRCm39) |
M55K |
possibly damaging |
Het |
Trpc6 |
A |
T |
9: 8,653,017 (GRCm39) |
R608* |
probably null |
Het |
Unc93a2 |
G |
A |
17: 7,644,021 (GRCm39) |
T96I |
probably damaging |
Het |
Usp35 |
A |
G |
7: 96,960,754 (GRCm39) |
S891P |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,035 (GRCm39) |
T28A |
probably damaging |
Het |
Wnk1 |
T |
A |
6: 119,926,240 (GRCm39) |
M1324L |
probably benign |
Het |
Wrnip1 |
C |
A |
13: 32,986,616 (GRCm39) |
S132R |
possibly damaging |
Het |
Wsb1 |
T |
C |
11: 79,141,814 (GRCm39) |
K68E |
probably benign |
Het |
Zfp433 |
A |
T |
10: 81,556,040 (GRCm39) |
K181* |
probably null |
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 |
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'- TGATGAAGCCCTCTTGAAGG -3'
(R):5'- CCATGCACCTTGAGCTTCTAGTG -3'
Sequencing Primer
(F):5'- GAAGCCCTCTTGAAGGCACTTG -3'
(R):5'- CTTGAGCTTCTAGTGACCCAGGAG -3'
|
Posted On |
2019-05-15 |