Incidental Mutation 'R2288:Fbxw19'
| ID |
244182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw19
|
| Ensembl Gene |
ENSMUSG00000074061 |
| Gene Name |
F-box and WD-40 domain protein 19 |
| Synonyms |
|
| MMRRC Submission |
040287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109307575-109324931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109322636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 111
(L111F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076617]
|
| AlphaFold |
Q8C2W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076617
AA Change: L111F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075918
Gene: ENSMUSG00000074061
AA Change: L111F
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,464,069 (GRCm39) |
S234P |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,506,608 (GRCm39) |
I940V |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,445 (GRCm39) |
L241Q |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,976 (GRCm39) |
I234V |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
| Zfp683 |
CGGG |
CCGGGGG |
4: 133,783,381 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGACTGGTGTGTACTG -3'
(R):5'- GTATCTGAACCAATGACCAGCC -3'
Sequencing Primer
(F):5'- ACTGGTGTGTACTGGGGGAATC -3'
(R):5'- ACCAATGACCAGCCTGTAGTGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation