Incidental Mutation 'R4483:Fbxl6'
| ID |
331507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl6
|
| Ensembl Gene |
ENSMUSG00000022559 |
| Gene Name |
F-box and leucine-rich repeat protein 6 |
| Synonyms |
|
| MMRRC Submission |
041739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4483 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76419923-76422946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76422129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 180
(L180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023219]
[ENSMUST00000023220]
[ENSMUST00000230604]
|
| AlphaFold |
Q9QXW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023219
AA Change: L180P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: L180P
| 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 |
noncoding transcript
Transcript: ENSMUST00000230938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230604
|
| Meta Mutation Damage Score |
0.7729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (36/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
| AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
| Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
| Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
| Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
| Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
| Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
| Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
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 |
|
|
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 |
|
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'- AGTGGATGAGGGTCAAGCTC -3'
(R):5'- TGCGCTGCTCCTAAAACAC -3'
Sequencing Primer
(F):5'- CTCTGGAGCTGAGAGAACCTG -3'
(R):5'- TTGTAGGCATTACCCGCAAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation