Incidental Mutation 'R4387:Fbxw24'
| ID |
326276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw24
|
| Ensembl Gene |
ENSMUSG00000062275 |
| Gene Name |
F-box and WD-40 domain protein 24 |
| Synonyms |
Gm5162 |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4387 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109430184-109455125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109439053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 174
(L174Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073962]
|
| AlphaFold |
E9PXM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073962
AA Change: L174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073617
Gene: ENSMUSG00000062275
AA Change: L174Q
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,782,715 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm39) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,031,366 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,540,479 (GRCm39) |
D364G |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,941,640 (GRCm39) |
V187D |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,345 (GRCm39) |
S434I |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,243,903 (GRCm39) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Gtpbp2 |
A |
G |
17: 46,477,284 (GRCm39) |
D383G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,843 (GRCm39) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,278 (GRCm39) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 84,098,335 (GRCm39) |
Q366L |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,386,778 (GRCm39) |
N256D |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,907,219 (GRCm39) |
T740A |
possibly damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,384,298 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,464 (GRCm39) |
D206V |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,523,001 (GRCm39) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,785 (GRCm39) |
L914M |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,322,847 (GRCm39) |
D382G |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,453,413 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,769,570 (GRCm39) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Shoc1 |
A |
T |
4: 59,060,915 (GRCm39) |
C953S |
possibly damaging |
Het |
| Slit3 |
T |
C |
11: 35,574,875 (GRCm39) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,211,378 (GRCm39) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,689,836 (GRCm39) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,175,628 (GRCm39) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,284,681 (GRCm39) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,152,568 (GRCm39) |
I55N |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATTTGCAGAGACTCCAAG -3'
(R):5'- CTTCCAAATAAAACTGGTGGGTG -3'
Sequencing Primer
(F):5'- TCCAAAGGTCCTGAGTTCAAGTC -3'
(R):5'- CTGGTGGGTGAAAGCAGCTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation