Incidental Mutation 'K3955:Fbxw14'
| ID |
67241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw14
|
| Ensembl Gene |
ENSMUSG00000105589 |
| Gene Name |
F-box and WD-40 domain protein 14 |
| Synonyms |
Fbxo12, E330009N23Rik, Fbx12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
K3955 (G3)
of strain
706
|
| Quality Score |
101 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109105313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 284
(P284Q)
|
| 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: P284Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066613
Gene: ENSMUSG00000054087
AA Change: P284Q
| 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: P231Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: P231Q
| 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: P284Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: P284Q
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
| Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
| Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
| Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
| H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
| Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
| Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
| Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
| Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
| Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
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 |
|
|
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 |
|
|
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'- TCCTGATTTTGGGGCGTATGACATC -3'
(R):5'- TCTGACCCTTAGTGGGAGCAATGAC -3'
Sequencing Primer
(F):5'- GACATCATGTCTGGATTGAGAAC -3'
(R):5'- GGAGCAATGACTGTTCCTCCC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation