Incidental Mutation 'R0033:Fbxl4'
| ID |
201261 |
| 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 |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
31 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
22357543-22434091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22377017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
| 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: V151A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: V151A
| 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 |
noncoding transcript
Transcript: ENSMUST00000131972
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184455
AA Change: V151A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184582
AA Change: V151A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: V151A
| 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: V151A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: V151A
| 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 |
0.3664 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
100% (81/81) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,115,794 (GRCm39) |
F110L |
probably damaging |
Het |
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,819,588 (GRCm39) |
D110E |
possibly damaging |
Het |
| Auts2 |
G |
C |
5: 131,468,931 (GRCm39) |
D571E |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,827,446 (GRCm39) |
Q993L |
probably damaging |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,582,009 (GRCm39) |
T239K |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,866,026 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,424,710 (GRCm39) |
D310G |
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,223,737 (GRCm39) |
|
probably benign |
Het |
| Hapln1 |
A |
T |
13: 89,749,932 (GRCm39) |
Q159L |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,142,131 (GRCm39) |
Y382* |
probably null |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,946,359 (GRCm39) |
C489S |
probably damaging |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,076 (GRCm39) |
N281K |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Myoc |
G |
A |
1: 162,476,010 (GRCm39) |
G238E |
probably damaging |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,572 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
A |
15: 76,181,334 (GRCm39) |
Q1202L |
probably benign |
Het |
| Or5p62 |
G |
T |
7: 107,771,134 (GRCm39) |
D272E |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,500,982 (GRCm39) |
T30A |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,440,765 (GRCm39) |
R718W |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,881 (GRCm39) |
Y284F |
probably benign |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,085 (GRCm39) |
L88P |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,055,929 (GRCm39) |
D820G |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,674,111 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,805,864 (GRCm39) |
A72T |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,901,311 (GRCm39) |
T531I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,368 (GRCm39) |
M14K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,572,624 (GRCm39) |
I26090F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,123 (GRCm39) |
R369L |
probably benign |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,959,991 (GRCm39) |
T597A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,387 (GRCm39) |
I281K |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,433 (GRCm39) |
V109A |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,214,627 (GRCm39) |
M773L |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
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 |
|
|
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 |
|
|
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'- AGTTCTGGTGACTTCACGCAGAC -3'
(R):5'- CTAAAGACCTCTCGACAGCTTCACG -3'
Sequencing Primer
(F):5'- CGGCTGTGTTTCGAACTTATG -3'
(R):5'- TGACTTAAGAGGATGCTGCC -3'
|
| Posted On |
2014-05-27 |
Incidental Mutation