Incidental Mutation 'R1540:Fbxl5'
ID 171650
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 039579-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1540 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 43901958-43939529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43915978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 435 (V435E)
Ref Sequence ENSEMBL: ENSMUSP00000112444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047857] [ENSMUST00000087465] [ENSMUST00000114047] [ENSMUST00000119523] [ENSMUST00000121736] [ENSMUST00000124610] [ENSMUST00000196483]
AlphaFold Q8C2S5
Predicted Effect possibly damaging
Transcript: ENSMUST00000047857
AA Change: V478E

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: V478E

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 possibly damaging
Transcript: ENSMUST00000087465
AA Change: V478E

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: V478E

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 possibly damaging
Transcript: ENSMUST00000114047
AA Change: V472E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: V472E

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 possibly damaging
Transcript: ENSMUST00000119523
AA Change: V461E

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: V461E

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 possibly damaging
Transcript: ENSMUST00000121736
AA Change: V435E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: V435E

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 possibly damaging
Transcript: ENSMUST00000124610
AA Change: V478E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: V478E

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 possibly damaging
Transcript: ENSMUST00000196483
AA Change: V477E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: V477E

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: V398E
SMART Domains Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: V398E

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 noncoding transcript
Transcript: ENSMUST00000143316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140469
Meta Mutation Damage Score 0.5814 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Catsperb G A 12: 101,378,589 (GRCm39) R30Q probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Dclk1 T C 3: 55,385,244 (GRCm39) S45P probably damaging Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nod1 T C 6: 54,920,960 (GRCm39) T453A probably benign Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rlbp1 C T 7: 79,029,808 (GRCm39) A142T probably damaging Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Vps45 C T 3: 95,955,658 (GRCm39) A111T probably damaging Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A 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
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
R5093:Fbxl5 UTSW 5 43,930,896 (GRCm39) missense probably damaging 1.00
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'- ACACATTGCAGAAGTCGCTGGG -3'
(R):5'- CTTTCTGAAAAGTGCAGGCAAGGC -3'

Sequencing Primer
(F):5'- GCTGTCCCTGTACAACAGAATG -3'
(R):5'- AGGCAAGGCTGCTTCAAC -3'
Posted On 2014-04-13