Incidental Mutation 'IGL03010:Fbxw24'
ID |
407719 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw24
|
Ensembl Gene |
ENSMUSG00000062275 |
Gene Name |
F-box and WD-40 domain protein 24 |
Synonyms |
Gm5162 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL03010
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109430184-109455125 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109452678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 106
(I106L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073962]
|
AlphaFold |
E9PXM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073962
AA Change: I106L
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000073617 Gene: ENSMUSG00000062275 AA Change: I106L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
probably damaging |
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 |
|
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 |
R4410: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 |
|
Posted On |
2016-08-02 |