Incidental Mutation 'R6584:Fbxw14'
| ID |
524288 |
| 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 |
044708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R6584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 109115611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 53
(C53S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112041]
[ENSMUST00000198844]
[ENSMUST00000198928]
|
| AlphaFold |
Q8C2Y5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112041
AA Change: C53S
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: C53S
| 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 |
possibly damaging
Transcript: ENSMUST00000198844
AA Change: C53S
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: C53S
| 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 |
probably benign
Transcript: ENSMUST00000198928
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,700,783 (GRCm39) |
D559G |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,624,254 (GRCm39) |
Y711C |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,128 (GRCm39) |
N1122D |
possibly damaging |
Het |
| Clgn |
T |
C |
8: 84,126,665 (GRCm39) |
I122T |
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,645,293 (GRCm39) |
F180Y |
probably damaging |
Het |
| Ifna9 |
A |
G |
4: 88,510,375 (GRCm39) |
L83P |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,920,137 (GRCm39) |
C1401R |
probably damaging |
Het |
| Il22 |
A |
T |
10: 118,040,932 (GRCm39) |
M13L |
probably benign |
Het |
| Il9r |
A |
G |
11: 32,141,782 (GRCm39) |
Y319H |
probably benign |
Het |
| Itgb5 |
T |
C |
16: 33,705,400 (GRCm39) |
F230S |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,703,935 (GRCm39) |
I26N |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,571,883 (GRCm39) |
R300C |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,479,378 (GRCm39) |
Y730D |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,963,450 (GRCm39) |
H792Y |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,043 (GRCm39) |
S621P |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,040 (GRCm39) |
T219S |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,956,558 (GRCm39) |
G738V |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,819,333 (GRCm39) |
D598G |
probably damaging |
Het |
| St6galnac2 |
A |
G |
11: 116,585,330 (GRCm39) |
S19P |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,869,635 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
C |
A |
8: 83,987,629 (GRCm39) |
Q863K |
probably damaging |
Het |
| Traf1 |
T |
A |
2: 34,848,070 (GRCm39) |
D8V |
probably damaging |
Het |
| Vmn2r24 |
T |
G |
6: 123,792,764 (GRCm39) |
M697R |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,122,031 (GRCm39) |
Y625F |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,245,065 (GRCm39) |
M339V |
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 |
|
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'- CAAGTGGGTGTCTCTTCTAGAG -3'
(R):5'- GCAAGCAGTGATGTCCTGTG -3'
Sequencing Primer
(F):5'- GGTGTCTCTTCTAGAGTACCCAAG -3'
(R):5'- CAGTGATGTCCTGTGGAGGTAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation