Incidental Mutation 'R6829:Fbxw4'
ID 534321
Institutional Source Beutler Lab
Gene Symbol Fbxw4
Ensembl Gene ENSMUSG00000040913
Gene Name F-box and WD-40 domain protein 4
Synonyms dactylin, Fbw4, dactylyn
MMRRC Submission 044939-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R6829 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 45566693-45648751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45624813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 57 (F57S)
Ref Sequence ENSEMBL: ENSMUSP00000124084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046869] [ENSMUST00000159590]
AlphaFold Q9JMJ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000046869
AA Change: F142S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036505
Gene: ENSMUSG00000040913
AA Change: F142S

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
FBOX 29 69 1.47e-2 SMART
WD40 150 187 3.45e-1 SMART
WD40 189 226 2.24e-2 SMART
WD40 232 274 8.91e-1 SMART
WD40 277 318 5.52e0 SMART
WD40 323 363 1.67e-1 SMART
Blast:WD40 366 406 1e-10 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000159590
AA Change: F57S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124084
Gene: ENSMUSG00000040913
AA Change: F57S

DomainStartEndE-ValueType
WD40 65 102 3.45e-1 SMART
WD40 104 141 2.24e-2 SMART
Meta Mutation Damage Score 0.6002 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous null mutation lack feet except for a single fused digit and die prenatally. Heterozygotes, in the presence of a recessive modifying allele, show loss of digits, frequently with fused metatarsal and metacarpal bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,265,446 (GRCm39) probably null Het
Adamts5 A T 16: 85,666,959 (GRCm39) M511K possibly damaging Het
Adcy9 A G 16: 4,125,018 (GRCm39) probably null Het
Cast T C 13: 74,876,463 (GRCm39) E113G possibly damaging Het
Ccdc198 A G 14: 49,464,025 (GRCm39) *295Q probably null Het
Dcaf1 T A 9: 106,715,803 (GRCm39) S307T probably damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Elac2 A G 11: 64,880,190 (GRCm39) E111G probably benign Het
Gm17655 T G 5: 110,194,792 (GRCm39) H330P probably damaging Het
Gm2a T C 11: 54,994,576 (GRCm39) probably null Het
Gon4l T A 3: 88,787,413 (GRCm39) D600E possibly damaging Het
Gsg1l2 T C 11: 67,665,684 (GRCm39) I84T possibly damaging Het
Igsf9 A G 1: 172,323,241 (GRCm39) R652G probably benign Het
Il17rd C T 14: 26,809,379 (GRCm39) R112* probably null Het
Jph1 C A 1: 17,074,647 (GRCm39) R457L probably damaging Het
Khdrbs3 T C 15: 68,964,810 (GRCm39) V249A possibly damaging Het
Mocs2 A G 13: 114,955,980 (GRCm39) S43G probably benign Het
Myom2 T A 8: 15,172,643 (GRCm39) L1190* probably null Het
Or2w1 T A 13: 21,317,023 (GRCm39) I26N possibly damaging Het
Or4f62 G C 2: 111,986,139 (GRCm39) probably benign Het
Or5ac16 A G 16: 59,021,898 (GRCm39) V297A probably damaging Het
Or8k33 A T 2: 86,383,613 (GRCm39) L285* probably null Het
Pgc A T 17: 48,043,706 (GRCm39) probably null Het
Plch1 T G 3: 63,604,939 (GRCm39) D1655A probably damaging Het
Pnliprp2 G A 19: 58,748,305 (GRCm39) G29R probably benign Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Rb1cc1 T C 1: 6,319,488 (GRCm39) I969T probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Sema7a A G 9: 57,868,181 (GRCm39) E538G probably benign Het
Slc2a2 C T 3: 28,781,590 (GRCm39) Q513* probably null Het
Slc4a8 A G 15: 100,698,419 (GRCm39) Y636C probably damaging Het
Tasor A G 14: 27,164,438 (GRCm39) D248G possibly damaging Het
Trpm5 A G 7: 142,623,166 (GRCm39) probably benign Het
Vmn1r14 T C 6: 57,210,536 (GRCm39) L38P probably benign Het
Washc4 T C 10: 83,396,380 (GRCm39) S397P probably damaging Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zan A G 5: 137,414,540 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,676,915 (GRCm39) T2655M probably damaging Het
Other mutations in Fbxw4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Fbxw4 APN 19 45,628,955 (GRCm39) missense probably benign 0.09
IGL03089:Fbxw4 APN 19 45,580,160 (GRCm39) splice site probably benign
R4566:Fbxw4 UTSW 19 45,580,225 (GRCm39) missense probably benign 0.24
R5827:Fbxw4 UTSW 19 45,568,096 (GRCm39) missense probably benign 0.05
R6175:Fbxw4 UTSW 19 45,624,766 (GRCm39) missense probably benign 0.00
R6862:Fbxw4 UTSW 19 45,571,187 (GRCm39) missense probably benign 0.01
R7528:Fbxw4 UTSW 19 45,648,449 (GRCm39) missense unknown
R9015:Fbxw4 UTSW 19 45,624,874 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTGGCTAACCTGTTATCAGC -3'
(R):5'- ATTACCTGGTCGGGAGTCTC -3'

Sequencing Primer
(F):5'- GCTAACCTGTTATCAGCTTTTGG -3'
(R):5'- GTCGGGAGTCTCTTTCAGC -3'
Posted On 2018-09-12