Incidental Mutation 'IGL02335:Fbxw20'
| ID |
289677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw20
|
| Ensembl Gene |
ENSMUSG00000061701 |
| Gene Name |
F-box and WD-40 domain protein 20 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
109046500-109063822 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109052377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 249
(K249E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079548]
[ENSMUST00000197329]
|
| AlphaFold |
Q5U467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079548
AA Change: K319E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000078503
Gene: ENSMUSG00000061701
AA Change: K319E
| 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: K249E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143126
Gene: ENSMUSG00000061701
AA Change: K249E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
5 |
45 |
1.5e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198261
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
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 |
|
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 |
|
R5794:Fbxw20
|
UTSW |
9 |
109,052,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation