Incidental Mutation 'R9306:Fbxw14'
ID |
705222 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R9306 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109100280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 458
(M458K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112041]
[ENSMUST00000198048]
[ENSMUST00000198844]
|
AlphaFold |
Q8C2Y5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112041
AA Change: M405K
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107672 Gene: ENSMUSG00000105589 AA Change: M405K
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 |
probably benign
Transcript: ENSMUST00000198844
AA Change: M458K
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143404 Gene: ENSMUSG00000105589 AA Change: M458K
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Adam18 |
G |
A |
8: 25,136,420 (GRCm39) |
S367L |
possibly damaging |
Het |
Alox12b |
A |
T |
11: 69,060,396 (GRCm39) |
I651F |
possibly damaging |
Het |
Arfgef2 |
A |
G |
2: 166,723,188 (GRCm39) |
K1543E |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 102,994,008 (GRCm39) |
I30V |
possibly damaging |
Het |
Atad2 |
A |
T |
15: 57,959,994 (GRCm39) |
Y1343* |
probably null |
Het |
Clca3a1 |
A |
G |
3: 144,730,339 (GRCm39) |
Y169H |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,506,010 (GRCm39) |
T2380A |
unknown |
Het |
Eno1b |
G |
A |
18: 48,180,922 (GRCm39) |
V367I |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,772,387 (GRCm39) |
E98G |
probably benign |
Het |
Galnt13 |
A |
T |
2: 54,823,569 (GRCm39) |
I382F |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,635 (GRCm39) |
T368A |
possibly damaging |
Het |
Ism2 |
C |
T |
12: 87,333,826 (GRCm39) |
C73Y |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,807,056 (GRCm39) |
V264A |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,358,884 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,119,599 (GRCm39) |
H1353Q |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,518,762 (GRCm39) |
C157S |
possibly damaging |
Het |
Map3k7cl |
A |
G |
16: 87,391,149 (GRCm39) |
D91G |
possibly damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,219,428 (GRCm39) |
D134E |
probably benign |
Het |
Meaf6 |
A |
T |
4: 124,996,766 (GRCm39) |
T159S |
unknown |
Het |
Moxd1 |
A |
G |
10: 24,128,824 (GRCm39) |
|
probably benign |
Het |
Mup8 |
T |
A |
4: 60,219,682 (GRCm39) |
E195V |
possibly damaging |
Het |
Nox4 |
A |
T |
7: 86,896,781 (GRCm39) |
Q48L |
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,677,407 (GRCm39) |
I290N |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,128 (GRCm39) |
W92R |
probably damaging |
Het |
Or6c219 |
G |
A |
10: 129,781,289 (GRCm39) |
S99F |
probably damaging |
Het |
Otop3 |
G |
T |
11: 115,237,248 (GRCm39) |
V571L |
probably benign |
Het |
Oxr1 |
A |
G |
15: 41,686,861 (GRCm39) |
H581R |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,764,492 (GRCm39) |
F340I |
probably damaging |
Het |
Pcdh10 |
G |
A |
3: 45,335,804 (GRCm39) |
G706D |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,250,353 (GRCm39) |
V202D |
probably damaging |
Het |
Pdpn |
G |
A |
4: 143,000,601 (GRCm39) |
T77M |
probably damaging |
Het |
Phf11 |
T |
A |
14: 59,482,294 (GRCm39) |
D153V |
probably damaging |
Het |
Pira1 |
T |
A |
7: 3,740,360 (GRCm39) |
Q287L |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,422,599 (GRCm39) |
T1598A |
probably benign |
Het |
Slc27a6 |
C |
T |
18: 58,742,953 (GRCm39) |
T547I |
possibly damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,430 (GRCm39) |
V282I |
possibly damaging |
Het |
Sppl3 |
C |
A |
5: 115,212,922 (GRCm39) |
N50K |
probably benign |
Het |
Taar5 |
T |
C |
10: 23,846,781 (GRCm39) |
S60P |
possibly damaging |
Het |
Tgtp2 |
G |
T |
11: 48,949,865 (GRCm39) |
Q236K |
probably benign |
Het |
Timd5 |
A |
C |
11: 46,419,519 (GRCm39) |
M112L |
probably benign |
Het |
Vmn1r8 |
T |
A |
6: 57,013,713 (GRCm39) |
W255R |
probably benign |
Het |
Vmn2r11 |
C |
T |
5: 109,196,831 (GRCm39) |
C547Y |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,855,328 (GRCm39) |
P262S |
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 |
R1124:Fbxw14
|
UTSW |
9 |
109,105,236 (GRCm39) |
missense |
possibly damaging |
0.48 |
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 |
|
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'- CCTGCTCATCTGAGTCAACC -3'
(R):5'- TTTAAACAGATTCAGGACTGTGATG -3'
Sequencing Primer
(F):5'- CAGGCTGGTCTCAGAATTCAGATC -3'
(R):5'- CAGATTCAGGACTGTGATGAAAAGAC -3'
|
Posted On |
2022-03-25 |