Incidental Mutation 'R5093:Fbxl5'
ID 387914
Institutional Source Beutler Lab
Gene Symbol Fbxl5
Ensembl Gene ENSMUSG00000039753
Gene Name F-box and leucine-rich repeat protein 5
Synonyms Fbl4, Fir4
MMRRC Submission 042682-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5093 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 43901958-43939529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43930896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 64 (Y64H)
Ref Sequence ENSEMBL: ENSMUSP00000116720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047857] [ENSMUST00000087465] [ENSMUST00000114047] [ENSMUST00000119523] [ENSMUST00000121736] [ENSMUST00000124610] [ENSMUST00000196483] [ENSMUST00000199055]
AlphaFold Q8C2S5
Predicted Effect probably damaging
Transcript: ENSMUST00000047857
AA Change: Y64H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: Y64H

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 138 1.3e-10 PFAM
FBOX 208 248 2.31e-9 SMART
low complexity region 289 310 N/A INTRINSIC
LRR 355 379 2.43e2 SMART
LRR 382 407 4.87e-4 SMART
low complexity region 481 492 N/A INTRINSIC
LRR 596 621 2.45e0 SMART
LRR 624 649 4.65e-1 SMART
Blast:LRR 650 681 2e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000087465
AA Change: Y64H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: Y64H

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 138 4.3e-15 PFAM
FBOX 208 248 2.31e-9 SMART
low complexity region 289 310 N/A INTRINSIC
LRR 355 379 2.43e2 SMART
LRR 382 407 4.87e-4 SMART
low complexity region 481 492 N/A INTRINSIC
LRR 596 621 1.23e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114047
AA Change: Y58H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: Y58H

DomainStartEndE-ValueType
Pfam:Hemerythrin 19 132 4.4e-11 PFAM
FBOX 202 242 2.31e-9 SMART
low complexity region 283 304 N/A INTRINSIC
LRR 349 373 2.43e2 SMART
LRR 376 401 4.87e-4 SMART
low complexity region 475 486 N/A INTRINSIC
LRR 590 615 2.45e0 SMART
LRR 618 643 4.65e-1 SMART
Blast:LRR 644 675 2e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000119523
AA Change: Y47H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: Y47H

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 121 2.2e-9 PFAM
FBOX 191 231 2.31e-9 SMART
low complexity region 272 293 N/A INTRINSIC
LRR 338 362 2.43e2 SMART
LRR 365 390 4.87e-4 SMART
low complexity region 464 475 N/A INTRINSIC
LRR 579 604 2.45e0 SMART
LRR 607 632 4.65e-1 SMART
Blast:LRR 633 664 2e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121736
SMART Domains Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753

DomainStartEndE-ValueType
PDB:3V5Z|B 1 118 2e-71 PDB
FBOX 165 205 2.31e-9 SMART
low complexity region 246 267 N/A INTRINSIC
LRR 312 336 2.43e2 SMART
LRR 339 364 4.87e-4 SMART
low complexity region 438 449 N/A INTRINSIC
LRR 553 578 1.23e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124421
Predicted Effect probably damaging
Transcript: ENSMUST00000124610
AA Change: Y64H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: Y64H

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 138 5.7e-12 PFAM
FBOX 208 248 1.5e-11 SMART
low complexity region 289 310 N/A INTRINSIC
LRR 355 379 1e0 SMART
LRR 382 407 2e-6 SMART
low complexity region 481 492 N/A INTRINSIC
LRR 596 621 1e-2 SMART
LRR 624 649 1.9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143316
Predicted Effect probably damaging
Transcript: ENSMUST00000196483
AA Change: Y64H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: Y64H

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 138 1.3e-10 PFAM
FBOX 208 248 2.31e-9 SMART
low complexity region 289 309 N/A INTRINSIC
LRR 354 378 2.43e2 SMART
LRR 381 406 4.87e-4 SMART
low complexity region 480 491 N/A INTRINSIC
LRR 595 620 2.45e0 SMART
LRR 623 648 4.65e-1 SMART
Blast:LRR 649 680 2e-13 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000141902
AA Change: Y16H
SMART Domains Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: Y16H

DomainStartEndE-ValueType
PDB:3V5Z|B 2 82 3e-43 PDB
FBOX 129 169 2.31e-9 SMART
low complexity region 210 231 N/A INTRINSIC
LRR 276 300 2.43e2 SMART
LRR 303 328 4.87e-4 SMART
low complexity region 402 413 N/A INTRINSIC
LRR 517 542 2.45e0 SMART
LRR 545 570 4.65e-1 SMART
Blast:LRR 571 602 3e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000199055
SMART Domains Protein: ENSMUSP00000142582
Gene: ENSMUSG00000039753

DomainStartEndE-ValueType
Pfam:Hemerythrin 6 105 6.1e-7 PFAM
Meta Mutation Damage Score 0.3487 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
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 is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before turning of the embryo with iron overload, growth retardation, and hemorrhage. Mice heterozygous for a knock-out allele exhibit abnormal iron homeostasis when fed a low iron diet. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,610,573 (GRCm39) probably benign Het
Abca9 A T 11: 110,032,358 (GRCm39) L753Q probably damaging Het
Acvrl1 A G 15: 101,032,628 (GRCm39) probably null Het
Adgrv1 A T 13: 81,740,704 (GRCm39) N141K probably damaging Het
Aftph C T 11: 20,659,619 (GRCm39) probably null Het
Aifm1 C T X: 47,571,637 (GRCm39) G371S probably benign Het
Aldh3b2 A G 19: 4,029,433 (GRCm39) M269V probably benign Het
Ankrd44 T C 1: 54,802,877 (GRCm39) Y207C probably damaging Het
Arhgap15 G T 2: 44,212,767 (GRCm39) M412I probably damaging Het
Auts2 A C 5: 131,468,296 (GRCm39) L783R probably damaging Het
Baiap2l1 A T 5: 144,215,363 (GRCm39) Y381N probably damaging Het
Baiap3 T C 17: 25,469,243 (GRCm39) D180G probably damaging Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Catsperg2 T C 7: 29,416,423 (GRCm39) S330G probably benign Het
Ccdc73 A T 2: 104,848,111 (GRCm39) probably benign Het
Cdc5l A T 17: 45,703,967 (GRCm39) F752L possibly damaging Het
Celsr2 G T 3: 108,320,689 (GRCm39) H708N possibly damaging Het
Cep170 T A 1: 176,596,896 (GRCm39) K487M possibly damaging Het
Cerkl A T 2: 79,163,867 (GRCm39) N66K probably damaging Het
Cilk1 G A 9: 78,047,303 (GRCm39) V68I probably benign Het
Clec11a C T 7: 43,954,150 (GRCm39) A268T probably damaging Het
Ctnna2 C A 6: 77,091,912 (GRCm39) probably null Het
Diaph3 C A 14: 87,222,236 (GRCm39) R416L probably damaging Het
Dnmbp T A 19: 43,838,315 (GRCm39) N1170I probably damaging Het
Erbb2 G T 11: 98,318,279 (GRCm39) C505F probably damaging Het
Ercc6 T A 14: 32,289,479 (GRCm39) F904L probably damaging Het
Exo5 C T 4: 120,779,514 (GRCm39) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Gabra4 T A 5: 71,798,207 (GRCm39) M207L probably damaging Het
Galnt15 T C 14: 31,771,786 (GRCm39) L277P probably damaging Het
Gclm T C 3: 122,049,261 (GRCm39) probably null Het
Gm5493 T A 17: 22,966,201 (GRCm39) C29S possibly damaging Het
Grik3 A G 4: 125,564,382 (GRCm39) T455A probably benign Het
Grm3 A G 5: 9,639,766 (GRCm39) V93A probably benign Het
Hdgfl2 C T 17: 56,406,217 (GRCm39) A535V possibly damaging Het
Hfm1 A T 5: 107,049,597 (GRCm39) S455T probably damaging Het
Hmcn1 T A 1: 150,613,007 (GRCm39) D1424V probably benign Het
Hsd3b6 C T 3: 98,715,120 (GRCm39) V91I probably benign Het
Igdcc4 G A 9: 65,030,039 (GRCm39) S363N possibly damaging Het
Intu T C 3: 40,647,347 (GRCm39) V740A probably benign Het
Itga2 C T 13: 114,992,717 (GRCm39) V838I probably benign Het
Kif9 A G 9: 110,318,965 (GRCm39) E143G probably damaging Het
Kmt2c T A 5: 25,614,205 (GRCm39) I172F probably benign Het
Kmt2d G A 15: 98,754,043 (GRCm39) R21W probably damaging Het
Mdh1b A T 1: 63,750,620 (GRCm39) D449E probably benign Het
Meis1 T C 11: 18,831,785 (GRCm39) I418V probably benign Het
Nags T A 11: 102,037,395 (GRCm39) M162K probably damaging Het
Nufip1 A G 14: 76,348,413 (GRCm39) D14G probably benign Het
Or2l13 T A 16: 19,306,227 (GRCm39) I213N probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or7g28 T G 9: 19,272,274 (GRCm39) I126L probably damaging Het
Osmr A C 15: 6,850,560 (GRCm39) V681G probably damaging Het
Paxip1 G T 5: 27,971,282 (GRCm39) Q356K unknown Het
Pcdhac1 T A 18: 37,223,595 (GRCm39) F136Y probably damaging Het
Pla2g6 A G 15: 79,171,328 (GRCm39) V699A probably benign Het
Plcb3 A T 19: 6,943,578 (GRCm39) V107E probably damaging Het
Plch1 T A 3: 63,681,136 (GRCm39) I164F probably damaging Het
Plpp3 A T 4: 105,052,077 (GRCm39) I73F probably damaging Het
Plscr5 G A 9: 92,080,574 (GRCm39) R20Q probably benign Het
Prdm10 G A 9: 31,252,779 (GRCm39) R504Q probably damaging Het
Prss58 T C 6: 40,874,751 (GRCm39) Y30C probably damaging Het
Psg19 T A 7: 18,530,894 (GRCm39) T87S probably benign Het
Ptpn22 T G 3: 103,789,418 (GRCm39) M294R probably benign Het
Rai1 T A 11: 60,079,482 (GRCm39) M1182K probably benign Het
Sez6 T A 11: 77,867,388 (GRCm39) V795D possibly damaging Het
Shcbp1 A G 8: 4,789,214 (GRCm39) V535A possibly damaging Het
Skint9 A G 4: 112,246,447 (GRCm39) Y222H probably benign Het
Slc13a3 T A 2: 165,253,816 (GRCm39) I446F probably damaging Het
Slc2a3 C T 6: 122,714,196 (GRCm39) R57H probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Spata31d1b A T 13: 59,863,838 (GRCm39) N329Y possibly damaging Het
Strbp C T 2: 37,517,499 (GRCm39) R192K probably damaging Het
Tctn3 A T 19: 40,600,548 (GRCm39) L14Q probably damaging Het
Tenm2 T A 11: 36,834,989 (GRCm39) D2V probably damaging Het
Tln2 T G 9: 67,241,596 (GRCm39) K1003T probably benign Het
Tmem63b T C 17: 45,971,800 (GRCm39) E805G probably damaging Het
Trhr A T 15: 44,060,980 (GRCm39) N167Y probably damaging Het
Trpc2 A G 7: 101,744,390 (GRCm39) R721G probably benign Het
Ttn C A 2: 76,701,267 (GRCm39) probably benign Het
Wdr91 A G 6: 34,869,288 (GRCm39) I412T probably damaging Het
Zcchc4 T A 5: 52,953,952 (GRCm39) S211T probably benign Het
Other mutations in Fbxl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Fbxl5 APN 5 43,922,678 (GRCm39) missense probably damaging 1.00
IGL00797:Fbxl5 APN 5 43,915,743 (GRCm39) missense probably damaging 1.00
IGL00811:Fbxl5 APN 5 43,915,567 (GRCm39) missense probably damaging 1.00
IGL01065:Fbxl5 APN 5 43,902,676 (GRCm39) missense probably damaging 1.00
IGL01626:Fbxl5 APN 5 43,916,047 (GRCm39) missense probably benign 0.00
IGL02285:Fbxl5 APN 5 43,922,690 (GRCm39) missense possibly damaging 0.88
D3080:Fbxl5 UTSW 5 43,915,708 (GRCm39) missense probably benign 0.00
PIT4498001:Fbxl5 UTSW 5 43,908,323 (GRCm39) missense possibly damaging 0.73
R0195:Fbxl5 UTSW 5 43,928,140 (GRCm39) missense probably damaging 1.00
R0647:Fbxl5 UTSW 5 43,925,411 (GRCm39) missense probably damaging 0.98
R1540:Fbxl5 UTSW 5 43,915,978 (GRCm39) missense possibly damaging 0.92
R1545:Fbxl5 UTSW 5 43,928,140 (GRCm39) missense probably damaging 1.00
R1569:Fbxl5 UTSW 5 43,922,803 (GRCm39) missense probably damaging 1.00
R1921:Fbxl5 UTSW 5 43,922,832 (GRCm39) missense probably benign 0.16
R3081:Fbxl5 UTSW 5 43,908,222 (GRCm39) missense probably damaging 1.00
R3776:Fbxl5 UTSW 5 43,915,618 (GRCm39) missense possibly damaging 0.57
R4096:Fbxl5 UTSW 5 43,915,583 (GRCm39) missense probably benign 0.19
R4275:Fbxl5 UTSW 5 43,920,114 (GRCm39) intron probably benign
R4383:Fbxl5 UTSW 5 43,920,305 (GRCm39) intron probably benign
R4469:Fbxl5 UTSW 5 43,925,528 (GRCm39) missense probably damaging 1.00
R4654:Fbxl5 UTSW 5 43,922,771 (GRCm39) missense probably damaging 0.99
R5067:Fbxl5 UTSW 5 43,916,114 (GRCm39) missense probably benign 0.00
R5696:Fbxl5 UTSW 5 43,916,182 (GRCm39) missense possibly damaging 0.93
R5738:Fbxl5 UTSW 5 43,920,170 (GRCm39) missense probably benign 0.30
R6029:Fbxl5 UTSW 5 43,922,746 (GRCm39) missense probably damaging 0.96
R6185:Fbxl5 UTSW 5 43,978,894 (GRCm39) missense probably benign 0.02
R6842:Fbxl5 UTSW 5 43,930,928 (GRCm39) missense probably damaging 1.00
R7234:Fbxl5 UTSW 5 43,915,562 (GRCm39) missense probably benign 0.08
R7563:Fbxl5 UTSW 5 43,978,891 (GRCm39) missense probably benign 0.00
R7653:Fbxl5 UTSW 5 43,916,116 (GRCm39) missense probably benign
R7842:Fbxl5 UTSW 5 43,915,945 (GRCm39) missense probably damaging 1.00
R7860:Fbxl5 UTSW 5 43,916,018 (GRCm39) missense probably benign 0.00
R8139:Fbxl5 UTSW 5 43,916,087 (GRCm39) nonsense probably null
R8393:Fbxl5 UTSW 5 43,925,433 (GRCm39) missense possibly damaging 0.94
R8727:Fbxl5 UTSW 5 43,908,362 (GRCm39) splice site probably benign
R9616:Fbxl5 UTSW 5 43,916,159 (GRCm39) missense probably benign
RF012:Fbxl5 UTSW 5 43,930,847 (GRCm39) missense probably damaging 1.00
X0065:Fbxl5 UTSW 5 43,918,140 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCGTAGCCGTCTCAAATAAATG -3'
(R):5'- CCAAGTACTCGAGAATGCAGC -3'

Sequencing Primer
(F):5'- AGCCGTCTCAAATAAATGAAGTATC -3'
(R):5'- GTACTCGAGAATGCAGCCTTCAG -3'
Posted On 2016-06-06