Incidental Mutation 'R8548:Fbxl6'
| ID |
659756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl6
|
| Ensembl Gene |
ENSMUSG00000022559 |
| Gene Name |
F-box and leucine-rich repeat protein 6 |
| Synonyms |
|
| MMRRC Submission |
068513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R8548 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76419923-76422946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76421542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 232
(M232L)
|
| 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: M232L
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: M232L
| 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 |
probably benign
Transcript: ENSMUST00000230604
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
| Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
| Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
| Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
| Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
| Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
| Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
| Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
| Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
| Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
| Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
| Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
| Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
| Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
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 |
|
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 |
|
X0058:Fbxl6
|
UTSW |
15 |
76,422,676 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCTGGGAACTGTAGGTC -3'
(R):5'- TTGTCATGACTACCAGTGTCCC -3'
Sequencing Primer
(F):5'- ACAGTTTACGCATTCGGGAC -3'
(R):5'- GACTACCAGTGTCCCTGTAGATAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation