Incidental Mutation 'R7645:Fbxl4'
| ID |
590470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl4
|
| Ensembl Gene |
ENSMUSG00000040410 |
| Gene Name |
F-box and leucine-rich repeat protein 4 |
| Synonyms |
FBL5, FBL4 |
| MMRRC Submission |
045701-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R7645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22377037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 158
(S158P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039234]
[ENSMUST00000184455]
[ENSMUST00000184582]
[ENSMUST00000185029]
|
| AlphaFold |
Q8BH70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039234
AA Change: S158P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: S158P
| 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 damaging
Transcript: ENSMUST00000184455
AA Change: S158P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184582
AA Change: S158P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: S158P
| 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 damaging
Transcript: ENSMUST00000185029
AA Change: S158P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: S158P
| 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 |
|
| Meta Mutation Damage Score |
0.4682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,789 (GRCm39) |
C375S |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,392 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,589,689 (GRCm39) |
Y1854C |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,387 (GRCm39) |
N290K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,879,318 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,442,705 (GRCm39) |
S501G |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
C |
5: 100,808,116 (GRCm39) |
C228W |
probably damaging |
Het |
| Cpt2 |
A |
T |
4: 107,764,171 (GRCm39) |
M531K |
possibly damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,375 (GRCm39) |
L204P |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,835,075 (GRCm39) |
V1305M |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,702,888 (GRCm39) |
I201T |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,064,630 (GRCm39) |
D370G |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,726,232 (GRCm39) |
H329R |
possibly damaging |
Het |
| Gpr3 |
A |
G |
4: 132,938,640 (GRCm39) |
W11R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,620 (GRCm39) |
I94N |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,310,524 (GRCm39) |
I57T |
probably damaging |
Het |
| Ltc4s |
T |
C |
11: 50,129,373 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
A |
T |
19: 11,501,304 (GRCm39) |
T105S |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,923 (GRCm39) |
H592R |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,303 (GRCm39) |
E262G |
probably benign |
Het |
| Or4x11 |
T |
A |
2: 89,868,091 (GRCm39) |
I276K |
possibly damaging |
Het |
| Or5b108 |
T |
C |
19: 13,168,937 (GRCm39) |
V302A |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
| Polg2 |
A |
T |
11: 106,666,419 (GRCm39) |
M242K |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,842,563 (GRCm39) |
T151A |
unknown |
Het |
| Pramel51 |
T |
C |
12: 88,143,028 (GRCm39) |
T392A |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,186 (GRCm39) |
L160P |
possibly damaging |
Het |
| Rab5b |
G |
A |
10: 128,517,260 (GRCm39) |
A176V |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,476 (GRCm39) |
T506A |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,340,243 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,029,450 (GRCm39) |
F279L |
possibly damaging |
Het |
| Slc49a4 |
T |
A |
16: 35,554,438 (GRCm39) |
|
probably null |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Srgn |
C |
T |
10: 62,330,757 (GRCm39) |
W116* |
probably null |
Het |
| Svil |
A |
G |
18: 5,099,663 (GRCm39) |
E1733G |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,119,742 (GRCm39) |
P49S |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,969,182 (GRCm39) |
K490M |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,845,915 (GRCm39) |
N173S |
probably benign |
Het |
| Tmco6 |
C |
T |
18: 36,868,446 (GRCm39) |
R31W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,730,025 (GRCm39) |
A5155S |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,647,387 (GRCm39) |
Y839H |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,340 (GRCm39) |
D370G |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,664,803 (GRCm39) |
L554P |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,014 (GRCm39) |
P385S |
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 |
|
R6977:Fbxl4
|
UTSW |
4 |
22,376,930 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
|
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'- ATGTCTTCCCAAGTTCTGGTG -3'
(R):5'- GTGACTTAAGAGGATGCTGCC -3'
Sequencing Primer
(F):5'- AGTTCTGGTGACTTCACGCAGAC -3'
(R):5'- CTTAAGAGGATGCTGCCAAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation