Incidental Mutation 'R1895:Fbxo44'
| ID |
209723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
039915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 148240726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 220
(R220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000047951]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000151127]
[ENSMUST00000173352]
[ENSMUST00000151246]
[ENSMUST00000167160]
[ENSMUST00000129253]
[ENSMUST00000168503]
[ENSMUST00000132083]
[ENSMUST00000134261]
[ENSMUST00000152098]
[ENSMUST00000172472]
|
| 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 damaging
Transcript: ENSMUST00000057907
AA Change: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: R167S
| 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
AA Change: A126P
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: A126P
| 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 damaging
Transcript: ENSMUST00000151127
AA Change: R167S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: R167S
| 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: ENSMUST00000173352
AA Change: R220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: R220S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
62 |
103 |
1.37e-2 |
SMART |
|
FBA
|
121 |
254 |
3.86e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151246
AA Change: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: R167S
| 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: R167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: R167S
| 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: ENSMUST00000129253
AA Change: R167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: R167S
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
213 |
1.15e-57 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153703
AA Change: R99S
|
| SMART Domains |
Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
AA Change: R99S
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6806 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.2%
- 20x: 86.6%
|
| Validation Efficiency |
96% (100/104) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,039,551 (GRCm39) |
S253P |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,412,314 (GRCm39) |
D431G |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
| Akr1b10 |
T |
A |
6: 34,365,805 (GRCm39) |
I110N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
| Arhgef12 |
G |
T |
9: 42,917,152 (GRCm39) |
Q396K |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cdh8 |
T |
C |
8: 100,006,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,656,829 (GRCm39) |
K749N |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,088,981 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,835,494 (GRCm39) |
D990G |
probably benign |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,973,677 (GRCm39) |
N364S |
possibly damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
| Glmn |
T |
C |
5: 107,718,110 (GRCm39) |
D269G |
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,959,409 (GRCm39) |
Y106C |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,694,767 (GRCm39) |
D701G |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,591,860 (GRCm39) |
I687K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,704,340 (GRCm39) |
V272E |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,375,847 (GRCm39) |
R220K |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
| Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,411,382 (GRCm39) |
T1443P |
unknown |
Het |
| Mxi1 |
G |
A |
19: 53,358,775 (GRCm39) |
R236H |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,386,396 (GRCm39) |
W1211R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
| Nxpe5 |
T |
C |
5: 138,249,785 (GRCm39) |
V525A |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,993,648 (GRCm39) |
T287S |
probably benign |
Het |
| Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,726 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
| Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
| Pakap |
T |
C |
4: 57,638,068 (GRCm39) |
V35A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,744,209 (GRCm39) |
E764G |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
| Prob1 |
T |
A |
18: 35,785,942 (GRCm39) |
T771S |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,768 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,301,775 (GRCm39) |
R249C |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
| Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
| Stil |
T |
C |
4: 114,881,072 (GRCm39) |
S539P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,141 (GRCm39) |
K71R |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,500 (GRCm39) |
Y138C |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,558 (GRCm39) |
L950Q |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
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 |
|
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'- TCTGTTGTCTAAGCTGGAAGC -3'
(R):5'- TCAAGGCTGAAGGGTATTGG -3'
Sequencing Primer
(F):5'- CTATTCTTCTACTAAAGCAAGTGAGG -3'
(R):5'- GCCCCCTATCTCCCAGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation