Incidental Mutation 'R1875:Fbxl18'
ID211133
Institutional Source Beutler Lab
Gene Symbol Fbxl18
Ensembl Gene ENSMUSG00000066640
Gene NameF-box and leucine-rich repeat protein 18
Synonyms
MMRRC Submission 039897-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R1875 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location142866946-142895421 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 142886223 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 419 (A419V)
Ref Sequence ENSEMBL: ENSMUSP00000106394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035985] [ENSMUST00000110766]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035985
AA Change: A355V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: A355V

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
FBOX 20 61 1.69e-2 SMART
SCOP:d1yrga_ 307 610 2e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110766
AA Change: A419V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: A419V

DomainStartEndE-ValueType
low complexity region 58 78 N/A INTRINSIC
FBOX 84 125 1.1e-4 SMART
SCOP:d1yrga_ 371 674 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156725
Meta Mutation Damage Score 0.2167 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 98% (85/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,682,358 D772G probably damaging Het
Abca14 A T 7: 120,247,967 M685L possibly damaging Het
Abi3bp A G 16: 56,574,499 Y190C probably damaging Het
Adam26a C A 8: 43,569,851 V201L probably benign Het
Adamts20 G T 15: 94,331,396 D947E probably benign Het
Ankrd26 A G 6: 118,540,449 probably null Het
Apol11a C A 15: 77,513,566 T39N possibly damaging Het
Arhgef38 T A 3: 133,133,740 probably null Het
Atp11b T C 3: 35,839,147 L883P probably damaging Het
Btnl10 T A 11: 58,923,760 I422N probably damaging Het
C2cd3 A G 7: 100,407,025 K547E possibly damaging Het
Cdh2 T A 18: 16,624,877 L549F probably benign Het
Celsr3 T C 9: 108,835,838 V1825A probably benign Het
Cfap221 T C 1: 119,953,659 I358V probably benign Het
Csmd1 T C 8: 15,929,101 K2828E probably damaging Het
Ddah2 T C 17: 35,060,845 F137S probably damaging Het
Ddx21 A G 10: 62,594,068 I299T probably damaging Het
Dnah7a A T 1: 53,456,532 probably benign Het
Elmod1 A G 9: 53,935,867 I9T probably benign Het
Epha2 A G 4: 141,308,979 E242G probably benign Het
Erbb3 T C 10: 128,574,466 H641R possibly damaging Het
Fli1 T C 9: 32,423,913 M408V probably benign Het
Fmo4 T C 1: 162,803,618 N260S possibly damaging Het
Fry A G 5: 150,326,132 E136G probably damaging Het
Gm10477 T A X: 56,524,767 F9Y probably damaging Het
Gm8258 A G 5: 104,776,454 noncoding transcript Het
Gpr68 T A 12: 100,878,790 D165V probably damaging Het
Htt T A 5: 34,794,112 M139K probably benign Het
Jup A G 11: 100,372,294 probably null Het
Kifc5b G A 17: 26,917,290 probably null Het
Krba1 T A 6: 48,414,049 probably null Het
Lamp1 G A 8: 13,167,257 G89R probably damaging Het
Lexm G A 4: 106,613,256 probably benign Het
Lrrc17 C T 5: 21,560,652 S44F possibly damaging Het
Mdga1 T C 17: 29,852,607 T347A probably damaging Het
Mical3 A T 6: 121,042,064 W66R probably damaging Het
Mpl A G 4: 118,456,829 Y73H probably benign Het
Mterf1b T A 5: 4,197,364 I335N possibly damaging Het
Mylk3 A G 8: 85,352,865 I388T probably damaging Het
Myo15 C T 11: 60,507,528 R2775W probably damaging Het
Myoz2 A T 3: 123,026,116 S65T probably damaging Het
Ndrg1 T C 15: 66,931,091 T137A possibly damaging Het
Neil3 G T 8: 53,599,419 N381K probably damaging Het
Obsl1 T C 1: 75,498,233 Y841C probably damaging Het
Olfr124 A G 17: 37,805,105 probably benign Het
Olfr711 G A 7: 106,972,182 S54F possibly damaging Het
Otogl T C 10: 107,899,590 D111G probably damaging Het
Parp10 T C 15: 76,242,851 E103G probably damaging Het
Pars2 T C 4: 106,653,716 F232L possibly damaging Het
Pcdh18 A T 3: 49,754,705 F720L probably damaging Het
Phf3 T C 1: 30,830,623 E448G possibly damaging Het
Pigc A G 1: 161,970,947 Y166C probably damaging Het
Pik3c2a A T 7: 116,417,971 S184T probably benign Het
Pkd1l1 A G 11: 8,844,670 probably benign Het
Plch2 G A 4: 154,998,508 S485F probably damaging Het
Plxnd1 G T 6: 115,978,084 probably null Het
Pnliprp2 G T 19: 58,763,389 V189L probably benign Het
Prl8a2 T C 13: 27,351,054 V103A probably benign Het
Psg23 G A 7: 18,610,450 T360I probably benign Het
Rad51c A T 11: 87,388,643 I323N probably damaging Het
Rsbn1l C T 5: 20,951,698 E30K probably benign Het
Serpina3c C A 12: 104,151,886 L64F probably damaging Het
Shroom1 A G 11: 53,465,675 D392G probably damaging Het
Slc26a5 T A 5: 21,815,727 I540L probably benign Het
Slc37a4 A G 9: 44,401,511 T321A probably damaging Het
Slc41a2 A G 10: 83,256,085 L438S probably damaging Het
Spef2 C T 15: 9,584,108 E1624K probably damaging Het
Spef2 C T 15: 9,597,401 G1390R possibly damaging Het
Synj2 G T 17: 6,028,550 A740S possibly damaging Het
Thegl A T 5: 77,054,584 K284M probably benign Het
Tigd4 A C 3: 84,595,087 D437A probably benign Het
Timm21 G C 18: 84,949,262 L130V probably damaging Het
Tmem106a CAGCTCAACACGACGGTA CAGCTCAACACGACGGTAAGCTCAACACGACGGTA 11: 101,586,378 probably benign Het
Tmem131l A T 3: 83,905,076 C1313* probably null Het
Tmem86b A T 7: 4,629,699 I47N possibly damaging Het
Tspan13 T C 12: 36,020,551 probably null Het
Vps54 A G 11: 21,300,251 T396A probably benign Het
Zfp106 A T 2: 120,513,615 probably null Het
Zfp668 T C 7: 127,866,482 probably null Het
Zfp809 A T 9: 22,238,731 R175* probably null Het
Other mutations in Fbxl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Fbxl18 APN 5 142885825 missense probably damaging 0.99
R1384:Fbxl18 UTSW 5 142886223 missense probably damaging 0.96
R1725:Fbxl18 UTSW 5 142886703 missense probably damaging 1.00
R1873:Fbxl18 UTSW 5 142886223 missense probably damaging 0.96
R1874:Fbxl18 UTSW 5 142886223 missense probably damaging 0.96
R2011:Fbxl18 UTSW 5 142872459 missense probably benign 0.00
R2186:Fbxl18 UTSW 5 142878761 missense probably damaging 1.00
R4977:Fbxl18 UTSW 5 142886085 missense probably damaging 1.00
R5011:Fbxl18 UTSW 5 142886680 missense probably damaging 1.00
R5025:Fbxl18 UTSW 5 142886313 missense probably damaging 0.98
R5567:Fbxl18 UTSW 5 142895267 unclassified probably benign
R5570:Fbxl18 UTSW 5 142895267 unclassified probably benign
R5654:Fbxl18 UTSW 5 142885803 missense probably damaging 1.00
R5677:Fbxl18 UTSW 5 142878720 nonsense probably null
R6010:Fbxl18 UTSW 5 142872398 missense probably damaging 1.00
R6302:Fbxl18 UTSW 5 142888823 missense probably damaging 1.00
X0023:Fbxl18 UTSW 5 142886371 missense probably benign 0.00
X0060:Fbxl18 UTSW 5 142885571 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TTCTTGCCAAATCCACGGG -3'
(R):5'- AACTTGCTGGACTCCATGGC -3'

Sequencing Primer
(F):5'- TGCCAAATCCACGGGGTACTG -3'
(R):5'- AAGTCCTGGCTCAATGGCTC -3'
Posted On2014-06-30