Incidental Mutation 'IGL01981:Fbxl3'
ID 183463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl3
Ensembl Gene ENSMUSG00000022124
Gene Name F-box and leucine-rich repeat protein 3
Synonyms Fbxl3a, Play68, Ovtm, Fbl3a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # IGL01981
Quality Score
Status
Chromosome 14
Chromosomal Location 103317675-103337002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103332900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 26 (T26M)
Ref Sequence ENSEMBL: ENSMUSP00000117701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000123043] [ENSMUST00000132004] [ENSMUST00000144141] [ENSMUST00000145693]
AlphaFold Q8C4V4
Predicted Effect probably benign
Transcript: ENSMUST00000022720
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: T26M

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123043
AA Change: T26M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117701
Gene: ENSMUSG00000022124
AA Change: T26M

DomainStartEndE-ValueType
FBOX 39 79 2.46e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132004
AA Change: T26M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: T26M

DomainStartEndE-ValueType
FBOX 39 79 2.46e-4 SMART
low complexity region 187 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144141
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120691
Gene: ENSMUSG00000022124
AA Change: T26M

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145693
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: T26M

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226952
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 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 and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous mutant mice display a longer free running period than that of wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Fbxl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Fbxl3 APN 14 103,332,730 (GRCm39) missense probably damaging 1.00
IGL03208:Fbxl3 APN 14 103,320,376 (GRCm39) nonsense probably null
delargo UTSW 14 103,326,854 (GRCm39) missense probably damaging 1.00
PIT4403001:Fbxl3 UTSW 14 103,332,900 (GRCm39) missense possibly damaging 0.79
R0282:Fbxl3 UTSW 14 103,332,661 (GRCm39) missense probably damaging 1.00
R0462:Fbxl3 UTSW 14 103,320,322 (GRCm39) missense probably damaging 1.00
R0710:Fbxl3 UTSW 14 103,326,751 (GRCm39) missense probably damaging 1.00
R1075:Fbxl3 UTSW 14 103,332,839 (GRCm39) missense probably benign 0.00
R2263:Fbxl3 UTSW 14 103,320,648 (GRCm39) nonsense probably null
R4239:Fbxl3 UTSW 14 103,326,854 (GRCm39) missense probably damaging 1.00
R4362:Fbxl3 UTSW 14 103,329,749 (GRCm39) missense probably damaging 1.00
R4497:Fbxl3 UTSW 14 103,320,313 (GRCm39) missense probably damaging 1.00
R4585:Fbxl3 UTSW 14 103,320,526 (GRCm39) missense probably damaging 0.99
R4586:Fbxl3 UTSW 14 103,320,526 (GRCm39) missense probably damaging 0.99
R5347:Fbxl3 UTSW 14 103,320,730 (GRCm39) missense probably damaging 0.97
R5349:Fbxl3 UTSW 14 103,333,012 (GRCm39) intron probably benign
R5885:Fbxl3 UTSW 14 103,320,667 (GRCm39) missense probably benign 0.06
R6744:Fbxl3 UTSW 14 103,320,730 (GRCm39) missense probably damaging 0.99
R8314:Fbxl3 UTSW 14 103,326,876 (GRCm39) missense probably benign 0.04
R9015:Fbxl3 UTSW 14 103,329,790 (GRCm39) missense possibly damaging 0.78
Posted On 2014-05-07