Incidental Mutation 'R0904:Fbxl6'
ID |
83265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl6
|
Ensembl Gene |
ENSMUSG00000022559 |
Gene Name |
F-box and leucine-rich repeat protein 6 |
Synonyms |
|
MMRRC Submission |
039062-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R0904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76419923-76422946 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 76421283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023219]
[ENSMUST00000023220]
[ENSMUST00000023220]
[ENSMUST00000230604]
|
AlphaFold |
Q9QXW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023219
|
SMART Domains |
Protein: ENSMUSP00000023219 Gene: ENSMUSG00000022559
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 null
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 |
probably null
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: ENSMUST00000230938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230994
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
89% (34/38) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly 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 |
|
IGL02205:Fbxl6
|
APN |
15 |
76,421,541 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGCCAAATCAGATTCAGCAGCC -3'
(R):5'- GCTTTCAGACTGCCACACTGTGAC -3'
Sequencing Primer
(F):5'- GATTCAGCAGCCGCAGC -3'
(R):5'- ACTGTGACTGCTGAAACTCTG -3'
|
Posted On |
2013-11-08 |