Incidental Mutation 'R4414:Fbxl6'
| ID |
377776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl6
|
| Ensembl Gene |
ENSMUSG00000022559 |
| Gene Name |
F-box and leucine-rich repeat protein 6 |
| Synonyms |
|
| MMRRC Submission |
041694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76419923-76422946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76421924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 205
(E205G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023219]
[ENSMUST00000023220]
[ENSMUST00000230604]
|
| AlphaFold |
Q9QXW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023219
AA Change: E205G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: E205G
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
| Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
| AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
| Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
| Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
| Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
| Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
| Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
| Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
| Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
| Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
| Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
| Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
| Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
| Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
probably benign |
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 |
|
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 |
|
|
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'- TGACAAGCCTATCCTATAGTCCC -3'
(R):5'- AGGGCTCCTTGTCATCTTACTG -3'
Sequencing Primer
(F):5'- AAGCCTATCCTATAGTCCCAGCTATG -3'
(R):5'- GCTCCTTGTCATCTTACTGTCTGTTG -3'
|
| Posted On |
2016-04-05 |
Incidental Mutation