Incidental Mutation 'R6236:Fbxw2'
ID |
504924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw2
|
Ensembl Gene |
ENSMUSG00000035949 |
Gene Name |
F-box and WD-40 domain protein 2 |
Synonyms |
MD6, FBW2, Fwd2 |
MMRRC Submission |
044400-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34712845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 72
(L72H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028220]
[ENSMUST00000091020]
[ENSMUST00000113075]
[ENSMUST00000113077]
[ENSMUST00000113078]
[ENSMUST00000113080]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028220
AA Change: L72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028220 Gene: ENSMUSG00000035949 AA Change: L72H
Domain | Start | End | E-Value | Type |
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
WD40
|
137 |
174 |
4.48e-2 |
SMART |
WD40
|
177 |
212 |
6.19e-1 |
SMART |
WD40
|
215 |
254 |
4.44e-6 |
SMART |
WD40
|
257 |
305 |
4.95e0 |
SMART |
WD40
|
311 |
351 |
6.6e1 |
SMART |
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091020
|
SMART Domains |
Protein: ENSMUSP00000088541 Gene: ENSMUSG00000035949
Domain | Start | End | E-Value | Type |
WD40
|
8 |
45 |
4.48e-2 |
SMART |
WD40
|
48 |
83 |
6.19e-1 |
SMART |
WD40
|
86 |
125 |
4.44e-6 |
SMART |
WD40
|
128 |
176 |
4.95e0 |
SMART |
WD40
|
182 |
222 |
6.6e1 |
SMART |
Blast:WD40
|
280 |
322 |
2e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113075
AA Change: L72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108698 Gene: ENSMUSG00000035949 AA Change: L72H
Domain | Start | End | E-Value | Type |
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
WD40
|
137 |
174 |
4.48e-2 |
SMART |
WD40
|
177 |
212 |
6.19e-1 |
SMART |
WD40
|
215 |
254 |
4.44e-6 |
SMART |
WD40
|
257 |
305 |
4.95e0 |
SMART |
WD40
|
311 |
351 |
6.6e1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113077
AA Change: L72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108700 Gene: ENSMUSG00000035949 AA Change: L72H
Domain | Start | End | E-Value | Type |
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
WD40
|
137 |
189 |
1.03e0 |
SMART |
WD40
|
192 |
240 |
4.95e0 |
SMART |
WD40
|
246 |
286 |
6.6e1 |
SMART |
Blast:WD40
|
344 |
386 |
3e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113078
AA Change: L72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108701 Gene: ENSMUSG00000035949 AA Change: L72H
Domain | Start | End | E-Value | Type |
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
WD40
|
137 |
174 |
4.48e-2 |
SMART |
WD40
|
177 |
212 |
6.19e-1 |
SMART |
WD40
|
215 |
254 |
4.44e-6 |
SMART |
WD40
|
257 |
305 |
4.95e0 |
SMART |
WD40
|
311 |
351 |
6.6e1 |
SMART |
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113080
AA Change: L72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108703 Gene: ENSMUSG00000035949 AA Change: L72H
Domain | Start | End | E-Value | Type |
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
WD40
|
137 |
174 |
4.48e-2 |
SMART |
WD40
|
177 |
212 |
6.19e-1 |
SMART |
WD40
|
215 |
254 |
4.44e-6 |
SMART |
WD40
|
257 |
305 |
4.95e0 |
SMART |
WD40
|
311 |
351 |
6.6e1 |
SMART |
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
Meta Mutation Damage Score |
0.9371 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,989,664 (GRCm39) |
T703A |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,427,127 (GRCm39) |
A49T |
probably benign |
Het |
Acer1 |
T |
A |
17: 57,262,231 (GRCm39) |
I224F |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,367,678 (GRCm39) |
D161G |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,948,887 (GRCm39) |
I111V |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,385 (GRCm39) |
|
probably null |
Het |
Chst14 |
T |
A |
2: 118,757,997 (GRCm39) |
C264S |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,542 (GRCm39) |
T339A |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,045,608 (GRCm39) |
K201R |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,319,030 (GRCm39) |
V1020A |
probably damaging |
Het |
Cts6 |
C |
A |
13: 61,344,192 (GRCm39) |
E287* |
probably null |
Het |
Dbf4 |
T |
C |
5: 8,448,579 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
G |
A |
14: 87,275,004 (GRCm39) |
R140* |
probably null |
Het |
Faah |
T |
C |
4: 115,856,786 (GRCm39) |
I459V |
probably benign |
Het |
Fstl4 |
G |
A |
11: 53,077,162 (GRCm39) |
G640S |
probably benign |
Het |
Gabrb1 |
C |
T |
5: 72,265,663 (GRCm39) |
T186M |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,179,548 (GRCm39) |
|
probably null |
Het |
Ifi203 |
A |
G |
1: 173,761,479 (GRCm39) |
V190A |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,641 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
A |
T |
5: 150,876,755 (GRCm39) |
T192S |
probably damaging |
Het |
Klhl3 |
G |
A |
13: 58,232,876 (GRCm39) |
A77V |
probably damaging |
Het |
Klri2 |
A |
G |
6: 129,715,858 (GRCm39) |
F114L |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,363,215 (GRCm39) |
R278* |
probably null |
Het |
Lrp5 |
A |
T |
19: 3,680,483 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
A |
11: 86,219,357 (GRCm39) |
H363L |
probably damaging |
Het |
Metap1d |
T |
G |
2: 71,346,022 (GRCm39) |
F194L |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,956 (GRCm39) |
K458E |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,081,157 (GRCm39) |
T1258A |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,354,064 (GRCm39) |
D1691V |
possibly damaging |
Het |
Nr1i2 |
C |
T |
16: 38,086,300 (GRCm39) |
C55Y |
probably damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,257 (GRCm39) |
S188P |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,409 (GRCm39) |
I50F |
possibly damaging |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,345 (GRCm39) |
Y247H |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,572,826 (GRCm39) |
D755E |
possibly damaging |
Het |
Sez6l |
G |
T |
5: 112,623,110 (GRCm39) |
T147K |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,244,001 (GRCm39) |
F451S |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,022,158 (GRCm39) |
T300I |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,673,613 (GRCm39) |
V1050A |
probably benign |
Het |
Spag1 |
T |
C |
15: 36,211,281 (GRCm39) |
S476P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,166 (GRCm39) |
S1964T |
probably benign |
Het |
Sucla2 |
T |
A |
14: 73,831,190 (GRCm39) |
D434E |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,717 (GRCm39) |
T779I |
probably benign |
Het |
Tlr2 |
T |
A |
3: 83,745,438 (GRCm39) |
E215V |
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,437,281 (GRCm39) |
P227S |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,016,477 (GRCm39) |
S711T |
probably benign |
Het |
Traj32 |
T |
A |
14: 54,423,565 (GRCm39) |
Y2* |
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,525 (GRCm39) |
R387G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,795,441 (GRCm39) |
T651A |
probably benign |
Het |
Vmn1r188 |
T |
C |
13: 22,272,414 (GRCm39) |
S123P |
probably damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,543,918 (GRCm39) |
L66P |
probably damaging |
Het |
Zfp712 |
C |
T |
13: 67,188,685 (GRCm39) |
C614Y |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,797,105 (GRCm39) |
K397R |
probably damaging |
Het |
|
Other mutations in Fbxw2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Fbxw2
|
APN |
2 |
34,702,961 (GRCm39) |
missense |
probably benign |
0.38 |
IGL00498:Fbxw2
|
APN |
2 |
34,695,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01359:Fbxw2
|
APN |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01770:Fbxw2
|
APN |
2 |
34,701,038 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01794:Fbxw2
|
APN |
2 |
34,701,131 (GRCm39) |
splice site |
probably benign |
|
IGL01934:Fbxw2
|
APN |
2 |
34,712,618 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02444:Fbxw2
|
APN |
2 |
34,695,793 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02948:Fbxw2
|
APN |
2 |
34,695,723 (GRCm39) |
makesense |
probably null |
|
IGL03209:Fbxw2
|
APN |
2 |
34,712,675 (GRCm39) |
missense |
probably damaging |
1.00 |
silkpurse
|
UTSW |
2 |
34,702,825 (GRCm39) |
critical splice donor site |
probably null |
|
R0597:Fbxw2
|
UTSW |
2 |
34,701,032 (GRCm39) |
missense |
probably damaging |
0.99 |
R0636:Fbxw2
|
UTSW |
2 |
34,712,859 (GRCm39) |
nonsense |
probably null |
|
R1489:Fbxw2
|
UTSW |
2 |
34,702,829 (GRCm39) |
small insertion |
probably benign |
|
R1920:Fbxw2
|
UTSW |
2 |
34,712,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R3177:Fbxw2
|
UTSW |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
R3277:Fbxw2
|
UTSW |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
R6194:Fbxw2
|
UTSW |
2 |
34,697,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Fbxw2
|
UTSW |
2 |
34,702,825 (GRCm39) |
critical splice donor site |
probably null |
|
R7382:Fbxw2
|
UTSW |
2 |
34,697,314 (GRCm39) |
missense |
probably benign |
0.01 |
R7636:Fbxw2
|
UTSW |
2 |
34,702,956 (GRCm39) |
missense |
probably benign |
0.00 |
R8361:Fbxw2
|
UTSW |
2 |
34,697,426 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8841:Fbxw2
|
UTSW |
2 |
34,712,844 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAAGGCTTCATGGTCCTC -3'
(R):5'- GAGACATGGCTTGATAACATTTCTG -3'
Sequencing Primer
(F):5'- AGTTGCTTCATCCTCAAAATAGCC -3'
(R):5'- GTTACATTTCTTTCTCTGACGGAC -3'
|
Posted On |
2018-02-28 |