Incidental Mutation 'R3712:Fbxo44'
| ID |
259654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
040705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148240461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 256
(W256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000047951]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000151127]
[ENSMUST00000129253]
[ENSMUST00000167160]
[ENSMUST00000172472]
[ENSMUST00000151246]
[ENSMUST00000132083]
[ENSMUST00000173352]
[ENSMUST00000168503]
[ENSMUST00000152098]
[ENSMUST00000134261]
|
| 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 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: 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 benign
Transcript: ENSMUST00000151127
AA Change: W256R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: W256R
| 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: 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: 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: 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 |
|
| 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: ENSMUST00000132083
|
| SMART Domains |
Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173352
|
| SMART Domains |
Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
| 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
C |
A |
16: 88,424,411 (GRCm39) |
V27F |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,473,134 (GRCm39) |
G44D |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,422,895 (GRCm39) |
E1057V |
possibly damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,331,050 (GRCm39) |
D588V |
probably damaging |
Het |
| Bag2 |
T |
A |
1: 33,785,997 (GRCm39) |
E108D |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,463,375 (GRCm39) |
V183I |
probably benign |
Het |
| Ccdc83 |
A |
G |
7: 89,885,563 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
G |
A |
1: 64,753,827 (GRCm39) |
E137K |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,308,155 (GRCm39) |
T1849A |
probably benign |
Het |
| Cep192 |
C |
A |
18: 67,953,400 (GRCm39) |
D472E |
probably benign |
Het |
| Cep57l1 |
A |
G |
10: 41,619,110 (GRCm39) |
Y86H |
probably damaging |
Het |
| Cep95 |
G |
T |
11: 106,702,112 (GRCm39) |
E370* |
probably null |
Het |
| Cldn10 |
A |
G |
14: 119,092,522 (GRCm39) |
T41A |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,764,157 (GRCm39) |
Y426N |
probably benign |
Het |
| Dipk1b |
T |
C |
2: 26,522,650 (GRCm39) |
L33S |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,166,374 (GRCm39) |
V89A |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,361,654 (GRCm39) |
S125P |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,940,067 (GRCm39) |
V313A |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,756,513 (GRCm39) |
R244G |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,844,931 (GRCm39) |
W134L |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,371,448 (GRCm39) |
T286A |
probably damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,644,798 (GRCm39) |
V529A |
possibly damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp8 |
G |
T |
4: 107,705,499 (GRCm39) |
R209L |
probably benign |
Het |
| Mgll |
T |
C |
6: 88,741,570 (GRCm39) |
|
probably benign |
Het |
| Mix23 |
T |
C |
16: 35,901,775 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or3a1d |
A |
T |
11: 74,238,023 (GRCm39) |
I129N |
probably damaging |
Het |
| Or5p66 |
A |
T |
7: 107,885,663 (GRCm39) |
Y223* |
probably null |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,461,218 (GRCm39) |
V526A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 62,383,137 (GRCm39) |
S744P |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,115,684 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,343,565 (GRCm39) |
D347G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Rpl7a-ps10 |
A |
G |
9: 97,061,926 (GRCm39) |
E232G |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,872 (GRCm39) |
L1177P |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,601,959 (GRCm39) |
L71* |
probably null |
Het |
| Sbspon |
A |
G |
1: 15,962,669 (GRCm39) |
C70R |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Son |
A |
G |
16: 91,453,614 (GRCm39) |
D787G |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,254,833 (GRCm39) |
S972N |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Srp14 |
A |
C |
2: 118,309,440 (GRCm39) |
L58V |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,162 (GRCm39) |
I129T |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,169,780 (GRCm39) |
K117R |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,798,345 (GRCm39) |
I384N |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,637 (GRCm39) |
I41K |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,419 (GRCm39) |
Y68* |
probably null |
Het |
| Zpld1 |
A |
T |
16: 55,046,799 (GRCm39) |
L390* |
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 |
|
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'- TTCCGGTTGCACACCTTTAG -3'
(R):5'- TCAGCAGAAAAGCGATGCC -3'
Sequencing Primer
(F):5'- CATGTGCTTGGTACCTGCAAAAGAC -3'
(R):5'- CAGAAAAGCGATGCCAAGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation