Incidental Mutation 'R0040:Fbxo44'
| ID |
216034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
038334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0040 (G1)
|
| Quality Score |
27 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148243152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 89
(L89P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134624
(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 damaging
Transcript: ENSMUST00000057907
AA Change: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: L36P
| 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: L36P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001
AA Change: L36P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
Pfam:FBA
|
68 |
126 |
3.4e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173352
AA Change: L89P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: L89P
| 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: ENSMUST00000153703
|
| SMART Domains |
Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
| Meta Mutation Damage Score |
0.3626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.6%
|
| Validation Efficiency |
100% (88/88) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
| Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,988,840 (GRCm39) |
T666A |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
| Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,812,901 (GRCm39) |
Q1344L |
probably benign |
Het |
| Cyb5r4 |
A |
G |
9: 86,948,795 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,872,899 (GRCm39) |
S14I |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,153,805 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
| Gm9955 |
G |
T |
18: 24,842,209 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
| Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,788,056 (GRCm39) |
T589A |
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
| Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
| Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,843,611 (GRCm39) |
D328E |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,433,816 (GRCm39) |
P942S |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
| Med1 |
C |
T |
11: 98,057,081 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
A |
10: 75,695,614 (GRCm39) |
H63L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
| Nme2 |
A |
T |
11: 93,842,756 (GRCm39) |
|
probably null |
Het |
| Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,089,212 (GRCm39) |
V1165D |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,841,241 (GRCm39) |
T122S |
probably damaging |
Het |
| Or14a258 |
A |
T |
7: 86,035,715 (GRCm39) |
L51Q |
probably benign |
Het |
| Or1n2 |
T |
C |
2: 36,797,470 (GRCm39) |
F171L |
probably damaging |
Het |
| Or5j1 |
C |
T |
2: 86,879,548 (GRCm39) |
E11K |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,608 (GRCm39) |
I82L |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
| Phrf1 |
G |
T |
7: 140,823,770 (GRCm39) |
R196L |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
| Rbm39 |
G |
A |
2: 155,990,099 (GRCm39) |
T496I |
possibly damaging |
Het |
| Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
| Rtf2 |
G |
A |
2: 172,286,616 (GRCm39) |
S40N |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 44,919,141 (GRCm39) |
S481L |
possibly damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Siglec15 |
G |
A |
18: 78,092,092 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,879 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,346 (GRCm39) |
V59D |
probably benign |
Het |
| Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
| Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,223,492 (GRCm39) |
Y184H |
probably benign |
Het |
| Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
| Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
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 |
|
|
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 |
|
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'- AGCATGGGTCCTGTTGAGGCATAC -3'
(R):5'- AATCTCTCTATCCCTGGGTGCTGG -3'
Sequencing Primer
(F):5'- TGAGGCATACTCTCCGCAC -3'
(R):5'- TGCTGGGATTGCCACTC -3'
|
| Posted On |
2014-07-17 |
Incidental Mutation