Incidental Mutation 'R8536:Fbxw24'
| ID |
659247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw24
|
| Ensembl Gene |
ENSMUSG00000062275 |
| Gene Name |
F-box and WD-40 domain protein 24 |
| Synonyms |
Gm5162 |
| MMRRC Submission |
067890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109430184-109455125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109452599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 132
(T132I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073962]
|
| AlphaFold |
E9PXM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073962
AA Change: T132I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073617
Gene: ENSMUSG00000062275
AA Change: T132I
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
| Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
| Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
| Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
| Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
| Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
| Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
| Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
| Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
| Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
| Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
| Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
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 |
|
|
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 |
|
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 |
|
|
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'- GACAATCCTTGCAGAGATGGC -3'
(R):5'- GGGAAATGAAACTCCTTCTTTGG -3'
Sequencing Primer
(F):5'- CAATCCTTGCAGAGATGGCTTAGC -3'
(R):5'- GGTTTGTGTCGCCCTTCAACTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation