Incidental Mutation 'R1124:Fbxw14'
ID |
95986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw14
|
Ensembl Gene |
ENSMUSG00000105589 |
Gene Name |
F-box and WD-40 domain protein 14 |
Synonyms |
Fbxo12, E330009N23Rik, Fbx12 |
MMRRC Submission |
039197-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R1124 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109105236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 310
(I310F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112041]
[ENSMUST00000198048]
[ENSMUST00000198844]
|
AlphaFold |
Q8C2Y5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066901
AA Change: I310F
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000066613 Gene: ENSMUSG00000054087 AA Change: I310F
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
3e-6 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112041
AA Change: I257F
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107672 Gene: ENSMUSG00000105589 AA Change: I257F
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
208 |
2e-3 |
SMART |
Blast:WD40
|
136 |
175 |
4e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198048
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198844
AA Change: I310F
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143404 Gene: ENSMUSG00000105589 AA Change: I310F
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
3e-6 |
BLAST |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
Het |
|
Other mutations in Fbxw14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01319:Fbxw14
|
APN |
9 |
109,107,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01351:Fbxw14
|
APN |
9 |
109,103,640 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01654:Fbxw14
|
APN |
9 |
109,115,648 (GRCm39) |
splice site |
probably benign |
|
K3955:Fbxw14
|
UTSW |
9 |
109,105,313 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0064:Fbxw14
|
UTSW |
9 |
109,116,660 (GRCm39) |
nonsense |
probably null |
|
R0133:Fbxw14
|
UTSW |
9 |
109,103,647 (GRCm39) |
missense |
probably benign |
0.02 |
R0975:Fbxw14
|
UTSW |
9 |
109,100,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1782:Fbxw14
|
UTSW |
9 |
109,107,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2118:Fbxw14
|
UTSW |
9 |
109,103,692 (GRCm39) |
splice site |
probably benign |
|
R3881:Fbxw14
|
UTSW |
9 |
109,100,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4641:Fbxw14
|
UTSW |
9 |
109,107,750 (GRCm39) |
critical splice donor site |
probably null |
|
R4915:Fbxw14
|
UTSW |
9 |
109,103,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4952:Fbxw14
|
UTSW |
9 |
109,105,269 (GRCm39) |
missense |
probably benign |
0.01 |
R6137:Fbxw14
|
UTSW |
9 |
109,105,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Fbxw14
|
UTSW |
9 |
109,105,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6584:Fbxw14
|
UTSW |
9 |
109,115,611 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7130:Fbxw14
|
UTSW |
9 |
109,100,350 (GRCm39) |
missense |
probably benign |
0.02 |
R7845:Fbxw14
|
UTSW |
9 |
109,116,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Fbxw14
|
UTSW |
9 |
109,105,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R8169:Fbxw14
|
UTSW |
9 |
109,106,284 (GRCm39) |
missense |
probably benign |
0.05 |
R8815:Fbxw14
|
UTSW |
9 |
109,105,305 (GRCm39) |
nonsense |
probably null |
|
R8816:Fbxw14
|
UTSW |
9 |
109,105,305 (GRCm39) |
nonsense |
probably null |
|
R8818:Fbxw14
|
UTSW |
9 |
109,116,071 (GRCm39) |
start gained |
probably benign |
|
R8958:Fbxw14
|
UTSW |
9 |
109,107,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R8960:Fbxw14
|
UTSW |
9 |
109,114,367 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9093:Fbxw14
|
UTSW |
9 |
109,105,250 (GRCm39) |
missense |
probably benign |
|
R9306:Fbxw14
|
UTSW |
9 |
109,100,280 (GRCm39) |
missense |
probably benign |
0.12 |
R9455:Fbxw14
|
UTSW |
9 |
109,103,567 (GRCm39) |
missense |
probably benign |
0.00 |
R9563:Fbxw14
|
UTSW |
9 |
109,106,335 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Fbxw14
|
UTSW |
9 |
109,105,269 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Fbxw14
|
UTSW |
9 |
109,105,314 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTTGTGAGACAGCAGCCTCTATG -3'
(R):5'- TCCTGGGTGAAGAACAGATGCAAC -3'
Sequencing Primer
(F):5'- GACAGCAGCCTCTATGAAGATTTC -3'
(R):5'- GAACAGATGCAACCACTCTTGG -3'
|
Posted On |
2014-01-05 |