Incidental Mutation 'R1169:Fbxo44'
ID |
101447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo44
|
Ensembl Gene |
ENSMUSG00000029001 |
Gene Name |
F-box protein 44 |
Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
MMRRC Submission |
039242-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1169 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148240433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 265
(H265R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000047951]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000151127]
[ENSMUST00000151246]
[ENSMUST00000172472]
[ENSMUST00000167160]
[ENSMUST00000129253]
[ENSMUST00000132083]
[ENSMUST00000168503]
[ENSMUST00000134261]
[ENSMUST00000122913]
[ENSMUST00000173352]
[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: 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: ENSMUST00000151127
AA Change: H265R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134064 Gene: ENSMUSG00000029001 AA Change: H265R
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: 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: 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: 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: 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: ENSMUST00000132083
|
SMART Domains |
Protein: ENSMUSP00000120431 Gene: ENSMUSG00000055401
Domain | Start | End | E-Value | Type |
FBOX
|
7 |
48 |
1e-4 |
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: 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: 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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
T |
C |
10: 80,419,781 (GRCm39) |
E275G |
probably damaging |
Het |
Adam10 |
T |
A |
9: 70,653,574 (GRCm39) |
I123N |
probably damaging |
Het |
Adam8 |
A |
T |
7: 139,563,842 (GRCm39) |
L715Q |
probably benign |
Het |
Adcyap1r1 |
T |
A |
6: 55,471,101 (GRCm39) |
F418L |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,508,401 (GRCm39) |
I1322K |
probably damaging |
Het |
Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,095,468 (GRCm38) |
S389P |
possibly damaging |
Het |
C4b |
A |
T |
17: 34,961,946 (GRCm39) |
L100Q |
probably benign |
Het |
Cacul1 |
G |
A |
19: 60,568,846 (GRCm39) |
A104V |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,866 (GRCm39) |
F512S |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,299,454 (GRCm39) |
V61A |
possibly damaging |
Het |
Cfap251 |
GGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGA |
5: 123,392,673 (GRCm39) |
|
probably benign |
Het |
Chd1 |
T |
A |
17: 15,955,994 (GRCm39) |
F531Y |
probably damaging |
Het |
Clec2h |
C |
T |
6: 128,651,758 (GRCm39) |
Q156* |
probably null |
Het |
Clip2 |
T |
A |
5: 134,521,104 (GRCm39) |
E978V |
probably benign |
Het |
Cnpy2 |
T |
G |
10: 128,159,465 (GRCm39) |
L34R |
probably damaging |
Het |
Cog6 |
A |
T |
3: 52,921,265 (GRCm39) |
C114S |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,749,736 (GRCm39) |
V366E |
possibly damaging |
Het |
Col6a5 |
A |
G |
9: 105,774,173 (GRCm39) |
|
probably null |
Het |
Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
Dmbt1 |
G |
A |
7: 130,676,254 (GRCm39) |
|
probably null |
Het |
Dok1 |
A |
G |
6: 83,009,029 (GRCm39) |
F218L |
possibly damaging |
Het |
Dph7 |
T |
A |
2: 24,856,583 (GRCm39) |
N178K |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,117 (GRCm39) |
E800D |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,031,463 (GRCm39) |
Q205L |
possibly damaging |
Het |
Gli1 |
T |
A |
10: 127,174,320 (GRCm39) |
S24C |
probably damaging |
Het |
Gm4894 |
T |
A |
9: 49,185,526 (GRCm39) |
C43* |
probably null |
Het |
Gpbp1l1 |
C |
T |
4: 116,431,563 (GRCm39) |
H74Y |
possibly damaging |
Het |
H2-Eb2 |
T |
A |
17: 34,552,331 (GRCm39) |
F59I |
possibly damaging |
Het |
Hspa14 |
T |
C |
2: 3,499,161 (GRCm39) |
N211S |
possibly damaging |
Het |
Ifnlr1 |
T |
G |
4: 135,432,419 (GRCm39) |
F285C |
probably benign |
Het |
Igf1r |
G |
T |
7: 67,814,875 (GRCm39) |
V259L |
probably benign |
Het |
Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
Ighg2c |
A |
T |
12: 113,249,572 (GRCm39) |
|
probably benign |
Het |
Ighv8-14 |
A |
T |
12: 115,772,075 (GRCm39) |
|
probably null |
Het |
Iqsec2 |
A |
G |
X: 150,927,727 (GRCm39) |
S87G |
probably benign |
Het |
Itsn2 |
A |
G |
12: 4,689,694 (GRCm39) |
K589R |
probably damaging |
Het |
Khdc1a |
A |
C |
1: 21,420,495 (GRCm39) |
E38D |
possibly damaging |
Het |
Krt42 |
T |
G |
11: 100,154,171 (GRCm39) |
|
probably null |
Het |
Lpo |
T |
C |
11: 87,708,143 (GRCm39) |
N183S |
possibly damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,764 (GRCm39) |
Y224F |
probably damaging |
Het |
Ly6g6f |
T |
A |
17: 35,302,240 (GRCm39) |
D99V |
probably damaging |
Het |
Lyplal1 |
T |
C |
1: 185,846,531 (GRCm39) |
I42V |
probably benign |
Het |
Mis18bp1 |
G |
A |
12: 65,190,057 (GRCm39) |
Q793* |
probably null |
Het |
Myh10 |
T |
G |
11: 68,653,667 (GRCm39) |
M346R |
probably damaging |
Het |
Nav1 |
G |
T |
1: 135,382,943 (GRCm39) |
H1256Q |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,875,744 (GRCm39) |
V1642A |
probably benign |
Het |
Or4d6 |
C |
T |
19: 12,086,853 (GRCm39) |
R19H |
probably benign |
Het |
Or8b12i |
T |
C |
9: 20,082,354 (GRCm39) |
N171S |
probably benign |
Het |
Or8i2 |
A |
G |
2: 86,852,061 (GRCm39) |
F276L |
probably damaging |
Het |
Or8k28 |
A |
G |
2: 86,285,931 (GRCm39) |
I228T |
possibly damaging |
Het |
Orm3 |
G |
A |
4: 63,276,085 (GRCm39) |
V166M |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,120,708 (GRCm39) |
I264N |
probably damaging |
Het |
Paox |
G |
A |
7: 139,706,244 (GRCm39) |
V55I |
probably benign |
Het |
Pde4d |
C |
A |
13: 110,087,462 (GRCm39) |
|
probably null |
Het |
Pnliprp1 |
A |
G |
19: 58,723,383 (GRCm39) |
N258S |
probably damaging |
Het |
Potegl |
A |
G |
2: 23,146,994 (GRCm39) |
K275E |
possibly damaging |
Het |
Prl7b1 |
C |
A |
13: 27,790,887 (GRCm39) |
R66L |
possibly damaging |
Het |
Ptpre |
G |
T |
7: 135,269,341 (GRCm39) |
C261F |
probably benign |
Het |
Rho |
C |
G |
6: 115,909,199 (GRCm39) |
N78K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,751,622 (GRCm39) |
N1487D |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,563,359 (GRCm39) |
T2922I |
probably benign |
Het |
Saxo2 |
A |
C |
7: 82,284,379 (GRCm39) |
F160V |
possibly damaging |
Het |
Sbf2 |
A |
T |
7: 109,909,391 (GRCm39) |
Y1786N |
probably benign |
Het |
Sdad1 |
A |
T |
5: 92,446,092 (GRCm39) |
V280E |
probably benign |
Het |
Sgsm1 |
T |
C |
5: 113,427,351 (GRCm39) |
D90G |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,916,747 (GRCm39) |
D1169E |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,857,618 (GRCm39) |
V456E |
probably benign |
Het |
Skint8 |
T |
A |
4: 111,785,710 (GRCm39) |
I52N |
possibly damaging |
Het |
Slc27a1 |
C |
A |
8: 72,033,297 (GRCm39) |
R280S |
probably benign |
Het |
Slc9a3 |
G |
A |
13: 74,298,862 (GRCm39) |
V94I |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,185,269 (GRCm39) |
V936L |
possibly damaging |
Het |
Syce1 |
A |
G |
7: 140,358,120 (GRCm39) |
F255S |
probably benign |
Het |
Tmc7 |
G |
A |
7: 118,150,483 (GRCm39) |
S350L |
probably benign |
Het |
Tmem200a |
T |
A |
10: 25,870,246 (GRCm39) |
I8F |
probably damaging |
Het |
Trip6 |
T |
C |
5: 137,310,182 (GRCm39) |
H322R |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,400,517 (GRCm39) |
N177K |
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 |
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 |
|
Posted On |
2014-01-15 |