Incidental Mutation 'R5794:Fbxw20'
ID |
447125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw20
|
Ensembl Gene |
ENSMUSG00000061701 |
Gene Name |
F-box and WD-40 domain protein 20 |
Synonyms |
|
MMRRC Submission |
043385-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5794 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109046500-109063822 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109052358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 325
(N325S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079548]
[ENSMUST00000197329]
|
AlphaFold |
Q5U467 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079548
AA Change: N325S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078503 Gene: ENSMUSG00000061701 AA Change: N325S
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
2.37e-6 |
SMART |
SCOP:d1tbga_
|
116 |
249 |
5e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197329
AA Change: N255S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143126 Gene: ENSMUSG00000061701 AA Change: N255S
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
1.5e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198261
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
probably damaging |
Het |
|
Other mutations in Fbxw20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Fbxw20
|
APN |
9 |
109,063,770 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
IGL01764:Fbxw20
|
APN |
9 |
109,052,427 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02149:Fbxw20
|
APN |
9 |
109,062,886 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02307:Fbxw20
|
APN |
9 |
109,062,601 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02335:Fbxw20
|
APN |
9 |
109,052,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02338:Fbxw20
|
APN |
9 |
109,055,046 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4377001:Fbxw20
|
UTSW |
9 |
109,050,795 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4434001:Fbxw20
|
UTSW |
9 |
109,052,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Fbxw20
|
UTSW |
9 |
109,061,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1018:Fbxw20
|
UTSW |
9 |
109,050,404 (GRCm39) |
missense |
probably benign |
0.03 |
R1114:Fbxw20
|
UTSW |
9 |
109,052,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Fbxw20
|
UTSW |
9 |
109,050,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Fbxw20
|
UTSW |
9 |
109,050,777 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1967:Fbxw20
|
UTSW |
9 |
109,046,578 (GRCm39) |
missense |
probably benign |
0.00 |
R2055:Fbxw20
|
UTSW |
9 |
109,050,442 (GRCm39) |
missense |
probably damaging |
0.99 |
R2224:Fbxw20
|
UTSW |
9 |
109,062,650 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4394:Fbxw20
|
UTSW |
9 |
109,061,398 (GRCm39) |
missense |
probably benign |
0.00 |
R4617:Fbxw20
|
UTSW |
9 |
109,046,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5794:Fbxw20
|
UTSW |
9 |
109,062,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6090:Fbxw20
|
UTSW |
9 |
109,052,431 (GRCm39) |
missense |
probably benign |
0.03 |
R7161:Fbxw20
|
UTSW |
9 |
109,055,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Fbxw20
|
UTSW |
9 |
109,061,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R8004:Fbxw20
|
UTSW |
9 |
109,050,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R8258:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
probably benign |
0.18 |
R8259:Fbxw20
|
UTSW |
9 |
109,063,763 (GRCm39) |
missense |
probably benign |
0.18 |
R8770:Fbxw20
|
UTSW |
9 |
109,046,596 (GRCm39) |
missense |
probably benign |
0.00 |
R9006:Fbxw20
|
UTSW |
9 |
109,062,530 (GRCm39) |
splice site |
probably benign |
|
R9090:Fbxw20
|
UTSW |
9 |
109,050,423 (GRCm39) |
missense |
probably benign |
0.02 |
R9131:Fbxw20
|
UTSW |
9 |
109,052,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Fbxw20
|
UTSW |
9 |
109,050,423 (GRCm39) |
missense |
probably benign |
0.02 |
R9464:Fbxw20
|
UTSW |
9 |
109,050,399 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fbxw20
|
UTSW |
9 |
109,054,955 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTGTACGTATGCATGTGTACAA -3'
(R):5'- GCCAGGCTGCAGAGATTTAC -3'
Sequencing Primer
(F):5'- CGTATGCATGTGTACAAGCTAAACC -3'
(R):5'- CTGCAGGTCGTTTACATGAACAGC -3'
|
Posted On |
2016-12-15 |