Incidental Mutation 'IGL01973:Fbxl4'
ID182596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl4
Ensembl Gene ENSMUSG00000040410
Gene NameF-box and leucine-rich repeat protein 4
SynonymsFBL5, FBL4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.333) question?
Stock #IGL01973
Quality Score
Status
Chromosome4
Chromosomal Location22357543-22434091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 22422766 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 456 (L456R)
Ref Sequence ENSEMBL: ENSMUSP00000138825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039234] [ENSMUST00000184455] [ENSMUST00000184582] [ENSMUST00000185029]
Predicted Effect probably damaging
Transcript: ENSMUST00000039234
AA Change: L456R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: L456R

DomainStartEndE-ValueType
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
Predicted Effect probably damaging
Transcript: ENSMUST00000184582
AA Change: L456R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: L456R

DomainStartEndE-ValueType
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: L456R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: L456R

DomainStartEndE-ValueType
FBOX 283 325 2.11e-3 SMART
Blast:LRR 344 372 1e-7 BLAST
Blast:LRR 400 425 2e-9 BLAST
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,011,171 W59R probably damaging Het
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cts7 A T 13: 61,355,600 D183E probably benign Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Ntsr2 T A 12: 16,656,774 W268R probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Prkd1 C T 12: 50,366,379 G670R probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Slc24a3 T C 2: 145,245,027 V19A probably benign Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in Fbxl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Fbxl4 APN 4 22427348 missense probably benign 0.01
IGL02353:Fbxl4 APN 4 22433684 missense probably benign 0.00
IGL02360:Fbxl4 APN 4 22433684 missense probably benign 0.00
IGL02871:Fbxl4 APN 4 22386213 missense probably benign
R0033:Fbxl4 UTSW 4 22377017 missense probably damaging 1.00
R0379:Fbxl4 UTSW 4 22386106 missense probably benign 0.01
R1053:Fbxl4 UTSW 4 22427166 missense probably benign
R1527:Fbxl4 UTSW 4 22386154 missense probably benign 0.00
R1768:Fbxl4 UTSW 4 22385950 missense probably benign 0.00
R2148:Fbxl4 UTSW 4 22427333 missense possibly damaging 0.65
R2196:Fbxl4 UTSW 4 22403624 missense probably benign
R2850:Fbxl4 UTSW 4 22403624 missense probably benign
R4024:Fbxl4 UTSW 4 22377074 missense possibly damaging 0.83
R4425:Fbxl4 UTSW 4 22422699 intron probably null
R5227:Fbxl4 UTSW 4 22376840 missense probably damaging 1.00
R5499:Fbxl4 UTSW 4 22386017 missense probably damaging 1.00
R5595:Fbxl4 UTSW 4 22433641 missense probably damaging 1.00
R5895:Fbxl4 UTSW 4 22390678 missense probably damaging 1.00
R6475:Fbxl4 UTSW 4 22433661 missense probably damaging 1.00
R6697:Fbxl4 UTSW 4 22376599 missense probably benign 0.33
R6977:Fbxl4 UTSW 4 22376930 missense probably benign 0.22
Posted On2014-05-07