Incidental Mutation 'R5344:Fbxo44'
| ID |
422484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
042923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148238030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 191
(S191P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000126615]
[ENSMUST00000151246]
[ENSMUST00000167160]
[ENSMUST00000172472]
[ENSMUST00000168503]
[ENSMUST00000129253]
[ENSMUST00000151127]
[ENSMUST00000173352]
[ENSMUST00000132083]
[ENSMUST00000134261]
[ENSMUST00000152098]
|
| 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: 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 |
silent
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 damaging
Transcript: ENSMUST00000105705
AA Change: S191P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: S191P
| 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: ENSMUST00000126615
|
| SMART Domains |
Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
237 |
1.39e-97 |
SMART |
|
| Predicted Effect |
silent
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 |
silent
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: 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: 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: 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 |
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: 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 |
|
| Meta Mutation Damage Score |
0.0646 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,289,801 (GRCm39) |
C1499G |
probably benign |
Het |
| Aldoart1 |
A |
G |
4: 72,770,352 (GRCm39) |
V152A |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,673,771 (GRCm39) |
L3591P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,356,843 (GRCm39) |
M58K |
probably damaging |
Het |
| Asb3 |
A |
C |
11: 31,051,114 (GRCm39) |
I523L |
probably benign |
Het |
| Ascl2 |
T |
C |
7: 142,522,436 (GRCm39) |
H4R |
possibly damaging |
Het |
| Asic2 |
T |
C |
11: 80,862,413 (GRCm39) |
M246V |
probably damaging |
Het |
| Btc |
A |
T |
5: 91,524,779 (GRCm39) |
C53S |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,856,437 (GRCm39) |
I39M |
probably damaging |
Het |
| Cdkn3 |
T |
A |
14: 47,004,807 (GRCm39) |
M123K |
possibly damaging |
Het |
| Cebpz |
A |
G |
17: 79,233,542 (GRCm39) |
Y762H |
possibly damaging |
Het |
| Ces1g |
T |
A |
8: 94,063,821 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,236,763 (GRCm39) |
|
probably null |
Het |
| Chd7 |
G |
T |
4: 8,844,417 (GRCm39) |
G1537W |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,793,703 (GRCm39) |
D317E |
probably damaging |
Het |
| Clec3a |
C |
A |
8: 115,149,712 (GRCm39) |
N56K |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,002,011 (GRCm39) |
|
probably null |
Het |
| Cox20 |
G |
A |
1: 178,149,598 (GRCm39) |
|
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,255,839 (GRCm39) |
V471A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,163 (GRCm39) |
V1339A |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,352 (GRCm39) |
D1278G |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,450,614 (GRCm39) |
P284L |
probably benign |
Het |
| Evi5l |
G |
T |
8: 4,235,990 (GRCm39) |
R61L |
possibly damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,365 (GRCm39) |
Y914H |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,809,569 (GRCm39) |
I567T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,262,117 (GRCm39) |
R550K |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,400,597 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,481,739 (GRCm39) |
I3096T |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,712 (GRCm39) |
D180E |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,057 (GRCm39) |
F172L |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,138,845 (GRCm39) |
S369P |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,880,575 (GRCm39) |
R675Q |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,591 (GRCm38) |
D5G |
probably damaging |
Het |
| Maml3 |
T |
A |
3: 52,011,146 (GRCm39) |
D140V |
probably damaging |
Het |
| Med21 |
A |
G |
6: 146,550,683 (GRCm39) |
T65A |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,095,186 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,960,269 (GRCm39) |
Q325K |
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,673 (GRCm39) |
L37P |
probably benign |
Het |
| Or2n1c |
C |
A |
17: 38,519,995 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5d44 |
A |
C |
2: 88,141,334 (GRCm39) |
C269G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,626 (GRCm39) |
|
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,129,360 (GRCm39) |
V233I |
possibly damaging |
Het |
| Plekha2 |
A |
T |
8: 25,533,063 (GRCm39) |
|
probably null |
Het |
| Reg3b |
A |
G |
6: 78,349,843 (GRCm39) |
M128V |
probably benign |
Het |
| Rnaseh2a |
A |
G |
8: 85,684,735 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,073 (GRCm39) |
S516G |
probably benign |
Het |
| Serpina12 |
T |
A |
12: 104,001,807 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,000,540 (GRCm39) |
T320A |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,519,402 (GRCm39) |
D539E |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,007 (GRCm39) |
R485S |
possibly damaging |
Het |
| Srp54b |
T |
G |
12: 55,302,366 (GRCm39) |
I339S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,207,081 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
T |
C |
11: 62,711,751 (GRCm39) |
C54R |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,735,618 (GRCm39) |
R2824Q |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,245 (GRCm39) |
I138V |
probably damaging |
Het |
| Ubap2 |
A |
C |
4: 41,251,578 (GRCm39) |
M18R |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,712,392 (GRCm39) |
S548P |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,525,046 (GRCm39) |
D34G |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,904,904 (GRCm39) |
H74L |
probably damaging |
Het |
| Zfp408 |
C |
T |
2: 91,475,588 (GRCm39) |
C622Y |
probably benign |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,442,140 (GRCm39) |
C174F |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,096 (GRCm39) |
I605T |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,519 (GRCm39) |
T530A |
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 |
|
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'- GGCTAACAATGAGGTCTGGGA -3'
(R):5'- GTCCCTCTGTTCTTCTCGAAAA -3'
Sequencing Primer
(F):5'- TAACAATGAGGTCTGGGAGTTTCCAC -3'
(R):5'- TGGAACCTTGGTCCTCTACAAGAG -3'
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| Posted On |
2016-08-04 |
Incidental Mutation