Incidental Mutation 'R6706:Fbxl14'
ID 528943
Institutional Source Beutler Lab
Gene Symbol Fbxl14
Ensembl Gene ENSMUSG00000030019
Gene Name F-box and leucine-rich repeat protein 14
Synonyms
MMRRC Submission 044824-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6706 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 119456629-119459591 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119457716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 299 (Y299C)
Ref Sequence ENSEMBL: ENSMUSP00000032094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032094] [ENSMUST00000119369] [ENSMUST00000178696]
AlphaFold Q8BID8
Predicted Effect probably benign
Transcript: ENSMUST00000032094
AA Change: Y299C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032094
Gene: ENSMUSG00000030019
AA Change: Y299C

DomainStartEndE-ValueType
FBOX 8 48 6.86e-3 SMART
LRR 89 114 6.04e0 SMART
LRR 116 141 5.42e-2 SMART
LRR 142 167 6.88e0 SMART
LRR 168 193 2.49e-1 SMART
LRR 201 226 2.14e0 SMART
LRR 227 252 1.08e-1 SMART
LRR 253 277 2.71e-2 SMART
LRR 278 303 5.72e-1 SMART
LRR 304 328 5.74e1 SMART
LRR 329 354 2.24e-3 SMART
LRR 355 380 2.32e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119369
SMART Domains Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
WNT1 63 372 3.47e-215 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178696
SMART Domains Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
WNT1 50 359 3.47e-215 SMART
Meta Mutation Damage Score 0.1380 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,479 (GRCm39) K389* probably null Het
Adam6a T G 12: 113,508,886 (GRCm39) F420V probably benign Het
Alpl T C 4: 137,473,740 (GRCm39) T321A probably benign Het
Asxl3 A G 18: 22,586,666 (GRCm39) D152G probably damaging Het
B4galt4 A G 16: 38,578,173 (GRCm39) T207A probably benign Het
Bsph2 A T 7: 13,304,972 (GRCm39) M1K probably null Het
Cacna2d1 T A 5: 16,531,338 (GRCm39) L535Q probably damaging Het
Cacna2d3 T C 14: 28,846,642 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,328 (GRCm39) probably null Het
Ctdnep1 A G 11: 69,875,138 (GRCm39) N54S probably benign Het
Dclre1a A T 19: 56,533,501 (GRCm39) D364E probably benign Het
Dock1 A G 7: 134,735,615 (GRCm39) I1328V possibly damaging Het
Eno4 A T 19: 58,959,112 (GRCm39) E411D probably benign Het
Fhdc1 T C 3: 84,353,729 (GRCm39) S499G probably damaging Het
Hectd4 C T 5: 121,458,147 (GRCm39) T771I possibly damaging Het
Kansl3 A G 1: 36,383,995 (GRCm39) probably null Het
Letm2 G A 8: 26,083,977 (GRCm39) H85Y probably benign Het
Map3k6 A T 4: 132,978,250 (GRCm39) K1031* probably null Het
Mfsd4b5 T A 10: 39,862,413 (GRCm39) T37S probably benign Het
Mgam T A 6: 40,721,720 (GRCm39) V346D probably benign Het
Myrip C T 9: 120,217,359 (GRCm39) H98Y possibly damaging Het
Nos2 A G 11: 78,835,549 (GRCm39) N443D possibly damaging Het
Notch2 A T 3: 98,045,746 (GRCm39) D1637V possibly damaging Het
Or4c35 T A 2: 89,808,929 (GRCm39) V269E probably damaging Het
Or6z6 G A 7: 6,491,049 (GRCm39) R275C probably damaging Het
Pank1 C T 19: 34,789,786 (GRCm39) G530D probably damaging Het
Pde4dip G T 3: 97,648,709 (GRCm39) R1036S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plin2 T C 4: 86,578,357 (GRCm39) T247A probably benign Het
Rp1 T A 1: 4,212,887 (GRCm39) I1067F unknown Het
Serpinb9d T A 13: 33,380,541 (GRCm39) N142K probably benign Het
Slc12a5 A G 2: 164,830,509 (GRCm39) Y639C probably damaging Het
Tfap2c A G 2: 172,399,276 (GRCm39) M508V probably benign Het
Tmprss11d T C 5: 86,478,962 (GRCm39) N147S probably benign Het
Togaram1 T A 12: 65,049,383 (GRCm39) N1273K probably benign Het
Ttn G A 2: 76,709,687 (GRCm39) R1581* probably null Het
Uggt2 T A 14: 119,308,293 (GRCm39) I363F probably damaging Het
Vmn2r63 T A 7: 42,578,001 (GRCm39) D179V probably damaging Het
Other mutations in Fbxl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0382:Fbxl14 UTSW 6 119,458,021 (GRCm39) makesense probably null
R0699:Fbxl14 UTSW 6 119,457,715 (GRCm39) missense probably benign
R1328:Fbxl14 UTSW 6 119,457,347 (GRCm39) missense possibly damaging 0.95
R1696:Fbxl14 UTSW 6 119,457,107 (GRCm39) missense probably damaging 1.00
R4928:Fbxl14 UTSW 6 119,457,671 (GRCm39) missense probably damaging 1.00
R7705:Fbxl14 UTSW 6 119,457,742 (GRCm39) nonsense probably null
R9210:Fbxl14 UTSW 6 119,457,635 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TTCCCTGAAGCACATCTCGC -3'
(R):5'- ACAGATCTATGCCCGTGAGC -3'

Sequencing Primer
(F):5'- TGAAGCACATCTCGCGAGGG -3'
(R):5'- TGAGCTGGCTCAGGTGCTC -3'
Posted On 2018-07-24