Incidental Mutation 'R5413:Fbxl16'
ID 427611
Institutional Source Beutler Lab
Gene Symbol Fbxl16
Ensembl Gene ENSMUSG00000025738
Gene Name F-box and leucine-rich repeat protein 16
Synonyms
MMRRC Submission 042982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R5413 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26028059-26040229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26035817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 138 (T138K)
Ref Sequence ENSEMBL: ENSMUSP00000048562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045692]
AlphaFold A2RT62
Predicted Effect possibly damaging
Transcript: ENSMUST00000045692
AA Change: T138K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048562
Gene: ENSMUSG00000025738
AA Change: T138K

DomainStartEndE-ValueType
low complexity region 49 65 N/A INTRINSIC
low complexity region 70 89 N/A INTRINSIC
Blast:FBOX 98 137 2e-14 BLAST
LRR 241 266 1.32e1 SMART
LRR 267 291 1.61e2 SMART
LRR 293 318 1.76e2 SMART
LRR 319 344 3.21e-4 SMART
LRR 345 370 7.67e-2 SMART
LRR 371 396 6.13e-1 SMART
LRR 421 446 3.52e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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 FBXL16, 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,911,204 (GRCm39) T410S possibly damaging Het
Adamts3 A G 5: 89,856,626 (GRCm39) S316P probably damaging Het
Angptl3 A T 4: 98,919,259 (GRCm39) L6F probably benign Het
Clint1 T C 11: 45,777,307 (GRCm39) V98A probably damaging Het
Clk2 A G 3: 89,080,785 (GRCm39) N258S probably benign Het
Col18a1 T C 10: 76,905,310 (GRCm39) D723G probably damaging Het
Csmd3 A T 15: 47,701,831 (GRCm39) W1751R probably damaging Het
Daam1 C A 12: 71,993,066 (GRCm39) L352M unknown Het
Dennd2a A T 6: 39,441,227 (GRCm39) F964I probably damaging Het
Dock5 A G 14: 68,002,104 (GRCm39) L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 (GRCm39) L195P probably damaging Het
Esp24 A C 17: 39,350,893 (GRCm39) E31A possibly damaging Het
Fars2 T A 13: 36,388,545 (GRCm39) Y11* probably null Het
Frmpd1 A G 4: 45,249,196 (GRCm39) I129V probably benign Het
Gria1 A G 11: 57,108,620 (GRCm39) N241S probably benign Het
Homer1 A G 13: 93,528,287 (GRCm39) E274G probably benign Het
Igdcc3 T C 9: 65,084,797 (GRCm39) V189A possibly damaging Het
Igkv12-98 A G 6: 68,548,078 (GRCm39) Y68C possibly damaging Het
Igkv3-3 G C 6: 70,664,414 (GRCm39) R85S probably damaging Het
Ldha A G 7: 46,500,320 (GRCm39) T144A possibly damaging Het
Lrp1 A G 10: 127,423,936 (GRCm39) probably null Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Or14c44 A G 7: 86,061,675 (GRCm39) Y35C probably benign Het
Or2n1d G T 17: 38,646,515 (GRCm39) A156S probably benign Het
Or2y1b A T 11: 49,209,240 (GRCm39) Y289F probably damaging Het
Or6b13 A T 7: 139,782,635 (GRCm39) V16E possibly damaging Het
Osbp T C 19: 11,961,855 (GRCm39) Y551H probably damaging Het
Paf1 T C 7: 28,096,040 (GRCm39) M249T possibly damaging Het
Pcsk2 T C 2: 143,538,620 (GRCm39) probably null Het
Piwil1 G A 5: 128,820,944 (GRCm39) V290I possibly damaging Het
Prmt9 A T 8: 78,298,638 (GRCm39) D444V possibly damaging Het
Rapgef2 T C 3: 78,995,173 (GRCm39) D677G probably damaging Het
Tmem59 A G 4: 107,057,659 (GRCm39) E237G probably benign Het
Trpm5 A T 7: 142,634,705 (GRCm39) I664N probably damaging Het
Unc13b G A 4: 43,257,936 (GRCm39) probably null Het
Usp17lc C A 7: 103,067,763 (GRCm39) Q353K probably benign Het
Uvssa G A 5: 33,568,252 (GRCm39) V547M probably damaging Het
Vdac1 G T 11: 52,265,794 (GRCm39) L52F probably null Het
Vmn2r14 T A 5: 109,369,154 (GRCm39) I140L probably benign Het
Wnt3a A G 11: 59,166,182 (GRCm39) S33P probably benign Het
Wwp2 T A 8: 108,281,710 (GRCm39) Y300N probably damaging Het
Zwilch T A 9: 64,075,892 (GRCm39) probably null Het
Other mutations in Fbxl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Fbxl16 APN 17 26,038,338 (GRCm39) splice site probably benign
BB002:Fbxl16 UTSW 17 26,035,880 (GRCm39) missense probably benign 0.00
BB012:Fbxl16 UTSW 17 26,035,880 (GRCm39) missense probably benign 0.00
R1848:Fbxl16 UTSW 17 26,035,420 (GRCm39) missense probably benign
R6018:Fbxl16 UTSW 17 26,036,709 (GRCm39) missense probably damaging 1.00
R6048:Fbxl16 UTSW 17 26,035,967 (GRCm39) missense probably benign 0.44
R6352:Fbxl16 UTSW 17 26,037,919 (GRCm39) missense probably damaging 0.99
R7068:Fbxl16 UTSW 17 26,038,485 (GRCm39) missense possibly damaging 0.86
R7089:Fbxl16 UTSW 17 26,035,703 (GRCm39) missense probably benign 0.00
R7925:Fbxl16 UTSW 17 26,035,880 (GRCm39) missense probably benign 0.00
R8065:Fbxl16 UTSW 17 26,036,957 (GRCm39) missense probably damaging 0.99
R8067:Fbxl16 UTSW 17 26,036,957 (GRCm39) missense probably damaging 0.99
R9694:Fbxl16 UTSW 17 26,036,813 (GRCm39) nonsense probably null
X0025:Fbxl16 UTSW 17 26,037,489 (GRCm39) missense probably damaging 1.00
Z1176:Fbxl16 UTSW 17 26,035,985 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TACACCACTATCCCGGGTTG -3'
(R):5'- GGCCTTGACTCCCTTCTTAGAG -3'

Sequencing Primer
(F):5'- ACTATCCCGGGTTGCTCTGG -3'
(R):5'- GACTCCCTTCTTAGAGAGAGAATAG -3'
Posted On 2016-09-01