Incidental Mutation 'IGL02205:Fbxl6'
| ID |
284445 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl6
|
| Ensembl Gene |
ENSMUSG00000022559 |
| Gene Name |
F-box and leucine-rich repeat protein 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76419923-76422946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76421541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 232
(M232T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023219]
[ENSMUST00000023220]
[ENSMUST00000230604]
|
| AlphaFold |
Q9QXW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023219
AA Change: M232T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: M232T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
77 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
104 |
154 |
3.1e-6 |
PFAM |
|
Pfam:F-box-like
|
105 |
155 |
1.8e-13 |
PFAM |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
SCOP:d1yrga_
|
184 |
448 |
3e-9 |
SMART |
|
Blast:LRR
|
211 |
236 |
2e-6 |
BLAST |
|
Blast:LRR
|
347 |
373 |
6e-8 |
BLAST |
|
Blast:LRR
|
375 |
405 |
7e-9 |
BLAST |
|
Blast:LRR
|
432 |
456 |
7e-6 |
BLAST |
|
Blast:LRR
|
464 |
488 |
1e-5 |
BLAST |
|
Blast:LRR
|
489 |
520 |
7e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023220
|
| SMART Domains |
Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
Pfam:DUF1011
|
278 |
376 |
3e-38 |
PFAM |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230938
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
| Other mutations in Fbxl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Fbxl6
|
APN |
15 |
76,420,106 (GRCm39) |
nonsense |
probably null |
|
|
R0244:Fbxl6
|
UTSW |
15 |
76,421,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Fbxl6
|
UTSW |
15 |
76,420,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Fbxl6
|
UTSW |
15 |
76,420,953 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0904:Fbxl6
|
UTSW |
15 |
76,421,283 (GRCm39) |
splice site |
probably null |
|
|
R1477:Fbxl6
|
UTSW |
15 |
76,421,934 (GRCm39) |
missense |
probably benign |
|
|
R1784:Fbxl6
|
UTSW |
15 |
76,422,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Fbxl6
|
UTSW |
15 |
76,421,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3937:Fbxl6
|
UTSW |
15 |
76,420,824 (GRCm39) |
nonsense |
probably null |
|
|
R4414:Fbxl6
|
UTSW |
15 |
76,421,924 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4416:Fbxl6
|
UTSW |
15 |
76,421,924 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4483:Fbxl6
|
UTSW |
15 |
76,422,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Fbxl6
|
UTSW |
15 |
76,421,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Fbxl6
|
UTSW |
15 |
76,422,633 (GRCm39) |
missense |
probably benign |
|
|
R6345:Fbxl6
|
UTSW |
15 |
76,420,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Fbxl6
|
UTSW |
15 |
76,422,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Fbxl6
|
UTSW |
15 |
76,422,898 (GRCm39) |
unclassified |
probably benign |
|
|
R7485:Fbxl6
|
UTSW |
15 |
76,422,113 (GRCm39) |
splice site |
probably null |
|
|
R7560:Fbxl6
|
UTSW |
15 |
76,422,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7726:Fbxl6
|
UTSW |
15 |
76,420,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Fbxl6
|
UTSW |
15 |
76,421,485 (GRCm39) |
splice site |
probably null |
|
|
R8353:Fbxl6
|
UTSW |
15 |
76,422,678 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8548:Fbxl6
|
UTSW |
15 |
76,421,542 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0058:Fbxl6
|
UTSW |
15 |
76,422,676 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2015-04-16 |
Incidental Mutation