Incidental Mutation 'R4410:Fbxw24'
ID |
327867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw24
|
Ensembl Gene |
ENSMUSG00000062275 |
Gene Name |
F-box and WD-40 domain protein 24 |
Synonyms |
Gm5162 |
MMRRC Submission |
041692-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R4410 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109430184-109455125 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109437256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 210
(D210E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073962]
|
AlphaFold |
E9PXM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073962
AA Change: D210E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000073617 Gene: ENSMUSG00000062275 AA Change: D210E
Domain | Start | End | E-Value | Type |
FBOX
|
8 |
45 |
3.25e-4 |
SMART |
SCOP:d1gxra_
|
87 |
227 |
8e-7 |
SMART |
Blast:WD40
|
137 |
176 |
1e-6 |
BLAST |
|
Meta Mutation Damage Score |
0.1937 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
T |
15: 76,609,712 (GRCm39) |
|
probably benign |
Het |
Arrb1 |
G |
T |
7: 99,247,503 (GRCm39) |
|
probably benign |
Het |
Cadps |
A |
G |
14: 12,822,323 (GRCm38) |
M139T |
probably damaging |
Het |
Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
Cdca4 |
A |
T |
12: 112,785,499 (GRCm39) |
H76Q |
probably benign |
Het |
Ddias |
A |
G |
7: 92,507,287 (GRCm39) |
L876P |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
Dnttip1 |
A |
G |
2: 164,609,739 (GRCm39) |
|
probably benign |
Het |
Eme2 |
A |
G |
17: 25,112,598 (GRCm39) |
S160P |
probably benign |
Het |
Folr2 |
T |
C |
7: 101,489,881 (GRCm39) |
E129G |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,636,664 (GRCm39) |
N793K |
possibly damaging |
Het |
Iqcg |
T |
G |
16: 32,851,186 (GRCm39) |
K262Q |
possibly damaging |
Het |
Lhfpl3 |
A |
G |
5: 22,980,690 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
C |
6: 24,604,629 (GRCm39) |
S535R |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,555,094 (GRCm39) |
S342C |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,467,885 (GRCm39) |
R1050W |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,217,576 (GRCm39) |
T2301S |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,372,702 (GRCm39) |
E4048G |
probably damaging |
Het |
Myh3 |
G |
C |
11: 66,975,858 (GRCm39) |
E297Q |
possibly damaging |
Het |
Nkain3 |
A |
G |
4: 20,778,284 (GRCm39) |
V11A |
probably benign |
Het |
Or4c102 |
G |
A |
2: 88,422,765 (GRCm39) |
V206I |
probably benign |
Het |
P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
Pals2 |
C |
T |
6: 50,175,248 (GRCm39) |
Q520* |
probably null |
Het |
Phgdh |
A |
G |
3: 98,221,591 (GRCm39) |
M447T |
probably benign |
Het |
Pmfbp1 |
G |
A |
8: 110,258,695 (GRCm39) |
A667T |
probably benign |
Het |
Pramel41 |
A |
T |
5: 94,593,720 (GRCm39) |
Q15L |
probably benign |
Het |
Psmd2 |
T |
G |
16: 20,473,776 (GRCm39) |
C230G |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Slc37a3 |
T |
A |
6: 39,315,747 (GRCm39) |
Y443F |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,915,288 (GRCm39) |
G1314* |
probably null |
Het |
Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
St7 |
C |
T |
6: 17,854,932 (GRCm39) |
R267* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,141,167 (GRCm39) |
S99L |
probably damaging |
Het |
Tacc2 |
T |
G |
7: 130,343,941 (GRCm39) |
S2533R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Uaca |
T |
G |
9: 60,777,173 (GRCm39) |
V518G |
probably damaging |
Het |
Usp43 |
T |
C |
11: 67,746,716 (GRCm39) |
E992G |
probably benign |
Het |
Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,047,543 (GRCm39) |
T844M |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,911,320 (GRCm39) |
M904K |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
Zmym1 |
A |
T |
4: 126,941,897 (GRCm39) |
C830* |
probably null |
Het |
|
Other mutations in Fbxw24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01093:Fbxw24
|
APN |
9 |
109,434,041 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01373:Fbxw24
|
APN |
9 |
109,452,701 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01996:Fbxw24
|
APN |
9 |
109,434,440 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02179:Fbxw24
|
APN |
9 |
109,438,973 (GRCm39) |
nonsense |
probably null |
|
IGL02718:Fbxw24
|
APN |
9 |
109,453,858 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02936:Fbxw24
|
APN |
9 |
109,454,026 (GRCm39) |
splice site |
probably null |
|
IGL03010:Fbxw24
|
APN |
9 |
109,452,678 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03350:Fbxw24
|
APN |
9 |
109,436,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03402:Fbxw24
|
APN |
9 |
109,430,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R0140:Fbxw24
|
UTSW |
9 |
109,434,482 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0718:Fbxw24
|
UTSW |
9 |
109,452,577 (GRCm39) |
splice site |
probably benign |
|
R1166:Fbxw24
|
UTSW |
9 |
109,436,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1550:Fbxw24
|
UTSW |
9 |
109,436,112 (GRCm39) |
missense |
probably benign |
0.00 |
R1950:Fbxw24
|
UTSW |
9 |
109,434,481 (GRCm39) |
missense |
probably benign |
0.02 |
R1986:Fbxw24
|
UTSW |
9 |
109,436,124 (GRCm39) |
missense |
probably damaging |
0.97 |
R2244:Fbxw24
|
UTSW |
9 |
109,434,117 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3683:Fbxw24
|
UTSW |
9 |
109,437,110 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4324:Fbxw24
|
UTSW |
9 |
109,434,013 (GRCm39) |
critical splice donor site |
probably null |
|
R4387:Fbxw24
|
UTSW |
9 |
109,439,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4409:Fbxw24
|
UTSW |
9 |
109,437,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Fbxw24
|
UTSW |
9 |
109,453,910 (GRCm39) |
missense |
probably benign |
0.02 |
R5571:Fbxw24
|
UTSW |
9 |
109,436,066 (GRCm39) |
missense |
probably benign |
0.00 |
R6042:Fbxw24
|
UTSW |
9 |
109,436,079 (GRCm39) |
missense |
probably benign |
0.09 |
R6523:Fbxw24
|
UTSW |
9 |
109,434,048 (GRCm39) |
nonsense |
probably null |
|
R6799:Fbxw24
|
UTSW |
9 |
109,453,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Fbxw24
|
UTSW |
9 |
109,430,328 (GRCm39) |
missense |
probably benign |
0.03 |
R7239:Fbxw24
|
UTSW |
9 |
109,434,598 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7405:Fbxw24
|
UTSW |
9 |
109,436,136 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7705:Fbxw24
|
UTSW |
9 |
109,437,516 (GRCm39) |
splice site |
probably null |
|
R8536:Fbxw24
|
UTSW |
9 |
109,452,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R8873:Fbxw24
|
UTSW |
9 |
109,453,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Fbxw24
|
UTSW |
9 |
109,452,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R9430:Fbxw24
|
UTSW |
9 |
109,439,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATATCCCTGAGAACCTTCC -3'
(R):5'- AACCCCAGTTCTAGAGAGCC -3'
Sequencing Primer
(F):5'- TCCAGTCTTCACCATTACTAGAAAAG -3'
(R):5'- CCAGTTCTAGAGAGCCTTGTTTCATG -3'
|
Posted On |
2015-07-07 |