Incidental Mutation 'R6977:Fbxl4'
ID |
542495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl4
|
Ensembl Gene |
ENSMUSG00000040410 |
Gene Name |
F-box and leucine-rich repeat protein 4 |
Synonyms |
FBL5, FBL4 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.464)
|
Stock # |
R6977 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22376930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 122
(Q122L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039234]
[ENSMUST00000184455]
[ENSMUST00000184582]
[ENSMUST00000185029]
|
AlphaFold |
Q8BH70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039234
AA Change: Q122L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000042219 Gene: ENSMUSG00000040410 AA Change: Q122L
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
LRR
|
400 |
425 |
1.95e-3 |
SMART |
LRR
|
450 |
475 |
1.01e-1 |
SMART |
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
LRR
|
504 |
524 |
1.16e2 |
SMART |
LRR
|
532 |
557 |
3.69e1 |
SMART |
LRR
|
558 |
583 |
8.71e0 |
SMART |
LRR
|
584 |
609 |
1.64e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184455
AA Change: Q122L
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184582
AA Change: Q122L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139158 Gene: ENSMUSG00000040410 AA Change: Q122L
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-6 |
BLAST |
LRR
|
400 |
425 |
1.95e-3 |
SMART |
LRR
|
450 |
475 |
1.01e-1 |
SMART |
LRR_CC
|
478 |
503 |
4.14e-7 |
SMART |
LRR
|
504 |
524 |
1.16e2 |
SMART |
LRR
|
532 |
557 |
3.69e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185029
AA Change: Q122L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000138825 Gene: ENSMUSG00000040410 AA Change: Q122L
Domain | Start | End | E-Value | Type |
FBOX
|
283 |
325 |
2.11e-3 |
SMART |
Blast:LRR
|
344 |
372 |
1e-7 |
BLAST |
Blast:LRR
|
400 |
425 |
2e-9 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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 the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
A |
13: 59,839,394 (GRCm39) |
S17L |
possibly damaging |
Het |
Acap2 |
G |
T |
16: 30,936,079 (GRCm39) |
T336K |
probably damaging |
Het |
Angptl7 |
A |
T |
4: 148,581,850 (GRCm39) |
W179R |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,796,317 (GRCm39) |
F909L |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,486 (GRCm39) |
Y66* |
probably null |
Het |
C8b |
A |
G |
4: 104,644,193 (GRCm39) |
T287A |
possibly damaging |
Het |
Camk2a |
G |
A |
18: 61,093,076 (GRCm39) |
G301E |
probably damaging |
Het |
Ccdc186 |
A |
G |
19: 56,787,219 (GRCm39) |
M583T |
probably benign |
Het |
Cd55b |
T |
A |
1: 130,347,528 (GRCm39) |
K94N |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,704,914 (GRCm39) |
S466P |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,410,742 (GRCm39) |
|
probably null |
Het |
Cep70 |
A |
G |
9: 99,173,729 (GRCm39) |
D420G |
probably damaging |
Het |
Cnih4 |
T |
C |
1: 180,989,713 (GRCm39) |
S48P |
possibly damaging |
Het |
Cpne8 |
T |
C |
15: 90,381,294 (GRCm39) |
K507E |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,380,745 (GRCm39) |
Y160C |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,998,735 (GRCm39) |
M1104I |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,093,179 (GRCm39) |
N149I |
probably damaging |
Het |
Gm11232 |
T |
C |
4: 71,676,178 (GRCm39) |
|
probably benign |
Het |
Gm5901 |
A |
G |
7: 105,026,367 (GRCm39) |
Y45C |
probably benign |
Het |
Gsap |
A |
T |
5: 21,476,219 (GRCm39) |
I553F |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,436,530 (GRCm39) |
F631S |
probably damaging |
Het |
Kics2 |
A |
G |
10: 121,581,371 (GRCm39) |
H124R |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,865,040 (GRCm39) |
D544G |
probably damaging |
Het |
Klc2 |
G |
A |
19: 5,159,393 (GRCm39) |
R552C |
probably damaging |
Het |
Lamp1 |
T |
C |
8: 13,223,661 (GRCm39) |
V293A |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,633 (GRCm39) |
D3220V |
unknown |
Het |
Myb |
A |
T |
10: 21,028,551 (GRCm39) |
I104K |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,392,342 (GRCm39) |
R3227L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,148,472 (GRCm39) |
L1053Q |
probably damaging |
Het |
Nelfe |
T |
A |
17: 35,073,688 (GRCm39) |
V316E |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,268,091 (GRCm39) |
I347V |
probably null |
Het |
Or8g50 |
A |
G |
9: 39,648,330 (GRCm39) |
Y73C |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,735,202 (GRCm39) |
V1033A |
probably benign |
Het |
Plekhh1 |
G |
C |
12: 79,112,491 (GRCm39) |
W589C |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,517,272 (GRCm39) |
F658L |
probably damaging |
Het |
Prss55 |
A |
G |
14: 64,316,785 (GRCm39) |
M119T |
probably damaging |
Het |
Rab28 |
G |
A |
5: 41,855,735 (GRCm39) |
Q87* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sdr16c6 |
A |
T |
4: 4,076,865 (GRCm39) |
F11L |
probably benign |
Het |
Serpinb5 |
T |
G |
1: 106,800,077 (GRCm39) |
V89G |
probably benign |
Het |
Slc12a9 |
A |
T |
5: 137,314,075 (GRCm39) |
V628E |
probably damaging |
Het |
Slc25a34 |
G |
A |
4: 141,347,809 (GRCm39) |
R291C |
probably damaging |
Het |
Slmap |
C |
T |
14: 26,254,574 (GRCm39) |
R36H |
probably damaging |
Het |
Sybu |
A |
G |
15: 44,541,091 (GRCm39) |
S324P |
probably benign |
Het |
Syk |
A |
T |
13: 52,787,094 (GRCm39) |
M363L |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,906,200 (GRCm39) |
V934A |
probably benign |
Het |
Thpo |
A |
G |
16: 20,544,433 (GRCm39) |
L200P |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,568,934 (GRCm39) |
S1693R |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,377,671 (GRCm39) |
D232G |
probably damaging |
Het |
Wasf1 |
A |
G |
10: 40,802,581 (GRCm39) |
S79G |
probably damaging |
Het |
Zfp90 |
G |
T |
8: 107,151,948 (GRCm39) |
D554Y |
probably damaging |
Het |
Zfp90 |
A |
T |
8: 107,151,949 (GRCm39) |
D554V |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fbxl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Fbxl4
|
APN |
4 |
22,427,348 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01973:Fbxl4
|
APN |
4 |
22,422,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02353:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02360:Fbxl4
|
APN |
4 |
22,433,684 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02871:Fbxl4
|
APN |
4 |
22,386,213 (GRCm39) |
missense |
probably benign |
|
R0033:Fbxl4
|
UTSW |
4 |
22,377,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Fbxl4
|
UTSW |
4 |
22,386,106 (GRCm39) |
missense |
probably benign |
0.01 |
R1053:Fbxl4
|
UTSW |
4 |
22,427,166 (GRCm39) |
missense |
probably benign |
|
R1527:Fbxl4
|
UTSW |
4 |
22,386,154 (GRCm39) |
missense |
probably benign |
0.00 |
R1768:Fbxl4
|
UTSW |
4 |
22,385,950 (GRCm39) |
missense |
probably benign |
0.00 |
R2148:Fbxl4
|
UTSW |
4 |
22,427,333 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2196:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
R2850:Fbxl4
|
UTSW |
4 |
22,403,624 (GRCm39) |
missense |
probably benign |
|
R4024:Fbxl4
|
UTSW |
4 |
22,377,074 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4425:Fbxl4
|
UTSW |
4 |
22,422,699 (GRCm39) |
splice site |
probably null |
|
R5227:Fbxl4
|
UTSW |
4 |
22,376,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Fbxl4
|
UTSW |
4 |
22,386,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Fbxl4
|
UTSW |
4 |
22,433,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5895:Fbxl4
|
UTSW |
4 |
22,390,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Fbxl4
|
UTSW |
4 |
22,433,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R6697:Fbxl4
|
UTSW |
4 |
22,376,599 (GRCm39) |
missense |
probably benign |
0.33 |
R7106:Fbxl4
|
UTSW |
4 |
22,427,140 (GRCm39) |
splice site |
probably null |
|
R7164:Fbxl4
|
UTSW |
4 |
22,386,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7264:Fbxl4
|
UTSW |
4 |
22,386,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7502:Fbxl4
|
UTSW |
4 |
22,376,655 (GRCm39) |
missense |
probably benign |
|
R7645:Fbxl4
|
UTSW |
4 |
22,377,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Fbxl4
|
UTSW |
4 |
22,376,869 (GRCm39) |
missense |
probably benign |
0.07 |
R8152:Fbxl4
|
UTSW |
4 |
22,427,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8445:Fbxl4
|
UTSW |
4 |
22,385,983 (GRCm39) |
missense |
probably benign |
0.07 |
R8693:Fbxl4
|
UTSW |
4 |
22,403,704 (GRCm39) |
missense |
probably benign |
|
R8856:Fbxl4
|
UTSW |
4 |
22,390,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Fbxl4
|
UTSW |
4 |
22,376,778 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Fbxl4
|
UTSW |
4 |
22,427,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGTGGATTTCAGTTCCC -3'
(R):5'- GACCAGCTCAGCCTTCTATC -3'
Sequencing Primer
(F):5'- GTTCCCATTACGGCAGTGAGAAC -3'
(R):5'- CACGACCTGGGTCACTAAGAATG -3'
|
Posted On |
2018-11-28 |