Incidental Mutation 'IGL01094:Fbxw19'
| ID |
51905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw19
|
| Ensembl Gene |
ENSMUSG00000074061 |
| Gene Name |
F-box and WD-40 domain protein 19 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109307575-109324931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109322614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 119
(S119P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076617]
|
| AlphaFold |
Q8C2W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076617
AA Change: S119P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000075918
Gene: ENSMUSG00000074061
AA Change: S119P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Fbxw19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6107:Fbxw19
|
UTSW |
9 |
109,324,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation