Incidental Mutation 'R6107:Fbxw19'
ID |
485561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw19
|
Ensembl Gene |
ENSMUSG00000074061 |
Gene Name |
F-box and WD-40 domain protein 19 |
Synonyms |
|
MMRRC Submission |
044257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6107 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109307575-109324931 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 109324834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 28
(V28M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076617]
|
AlphaFold |
Q8C2W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076617
AA Change: V28M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075918 Gene: ENSMUSG00000074061 AA Change: V28M
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
1.8e-6 |
SMART |
SCOP:d1gxra_
|
87 |
284 |
3e-5 |
SMART |
Blast:WD40
|
137 |
176 |
8e-8 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
Het |
|
Other mutations in Fbxw19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01094:Fbxw19
|
APN |
9 |
109,322,614 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01878:Fbxw19
|
APN |
9 |
109,312,347 (GRCm39) |
splice site |
probably benign |
|
IGL02622:Fbxw19
|
APN |
9 |
109,322,602 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02752:Fbxw19
|
APN |
9 |
109,323,709 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02795:Fbxw19
|
APN |
9 |
109,324,886 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL03401:Fbxw19
|
APN |
9 |
109,324,038 (GRCm39) |
critical splice donor site |
probably null |
|
R0402:Fbxw19
|
UTSW |
9 |
109,313,493 (GRCm39) |
missense |
probably benign |
0.00 |
R0423:Fbxw19
|
UTSW |
9 |
109,315,134 (GRCm39) |
missense |
probably benign |
0.22 |
R0466:Fbxw19
|
UTSW |
9 |
109,307,717 (GRCm39) |
missense |
probably benign |
0.32 |
R0513:Fbxw19
|
UTSW |
9 |
109,310,621 (GRCm39) |
splice site |
probably null |
|
R1538:Fbxw19
|
UTSW |
9 |
109,324,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Fbxw19
|
UTSW |
9 |
109,323,840 (GRCm39) |
nonsense |
probably null |
|
R1869:Fbxw19
|
UTSW |
9 |
109,311,100 (GRCm39) |
missense |
probably benign |
0.11 |
R1933:Fbxw19
|
UTSW |
9 |
109,310,718 (GRCm39) |
missense |
probably benign |
0.20 |
R1960:Fbxw19
|
UTSW |
9 |
109,315,004 (GRCm39) |
missense |
probably benign |
|
R2288:Fbxw19
|
UTSW |
9 |
109,322,636 (GRCm39) |
missense |
probably damaging |
0.99 |
R2877:Fbxw19
|
UTSW |
9 |
109,315,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Fbxw19
|
UTSW |
9 |
109,315,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R4778:Fbxw19
|
UTSW |
9 |
109,323,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R5192:Fbxw19
|
UTSW |
9 |
109,313,496 (GRCm39) |
missense |
probably benign |
0.01 |
R5196:Fbxw19
|
UTSW |
9 |
109,313,496 (GRCm39) |
missense |
probably benign |
0.01 |
R5533:Fbxw19
|
UTSW |
9 |
109,315,133 (GRCm39) |
missense |
probably benign |
0.00 |
R6333:Fbxw19
|
UTSW |
9 |
109,323,751 (GRCm39) |
missense |
probably benign |
0.01 |
R6820:Fbxw19
|
UTSW |
9 |
109,311,079 (GRCm39) |
missense |
probably benign |
0.07 |
R7631:Fbxw19
|
UTSW |
9 |
109,311,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7651:Fbxw19
|
UTSW |
9 |
109,323,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Fbxw19
|
UTSW |
9 |
109,313,482 (GRCm39) |
missense |
probably benign |
0.26 |
R8678:Fbxw19
|
UTSW |
9 |
109,312,376 (GRCm39) |
nonsense |
probably null |
|
R9121:Fbxw19
|
UTSW |
9 |
109,324,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9256:Fbxw19
|
UTSW |
9 |
109,310,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R9324:Fbxw19
|
UTSW |
9 |
109,313,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9393:Fbxw19
|
UTSW |
9 |
109,324,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9408:Fbxw19
|
UTSW |
9 |
109,315,101 (GRCm39) |
missense |
probably benign |
|
Z1176:Fbxw19
|
UTSW |
9 |
109,310,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGCTTAGTAGACAGGTCTG -3'
(R):5'- CTCCAACCAAAGGCTGATGG -3'
Sequencing Primer
(F):5'- AGCTTAGTAGACAGGTCTGAATAAG -3'
(R):5'- GCTGATGGCCTGTGGTTG -3'
|
Posted On |
2017-08-16 |