Incidental Mutation 'IGL03089:Fbxw4'
ID 418312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw4
Ensembl Gene ENSMUSG00000040913
Gene Name F-box and WD-40 domain protein 4
Synonyms dactylin, Fbw4, dactylyn
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # IGL03089
Quality Score
Status
Chromosome 19
Chromosomal Location 45566693-45648751 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 45580160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046869] [ENSMUST00000160003] [ENSMUST00000160018] [ENSMUST00000160438] [ENSMUST00000162879] [ENSMUST00000162433]
AlphaFold Q9JMJ2
Predicted Effect probably benign
Transcript: ENSMUST00000046869
SMART Domains Protein: ENSMUSP00000036505
Gene: ENSMUSG00000040913

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 probably benign
Transcript: ENSMUST00000160003
SMART Domains Protein: ENSMUSP00000124604
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-20 BLAST
SCOP:d1fwxa2 8 62 4e-7 SMART
Blast:WD40 39 79 1e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160018
SMART Domains Protein: ENSMUSP00000125641
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 8e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160438
SMART Domains Protein: ENSMUSP00000125136
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
WD40 52 93 5.52e0 SMART
WD40 98 138 1.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161556
Predicted Effect probably benign
Transcript: ENSMUST00000162879
SMART Domains Protein: ENSMUSP00000124675
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 4e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 102 8e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162433
SMART Domains Protein: ENSMUSP00000124998
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 5e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 109 3e-12 BLAST
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Fbxw4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Fbxw4 APN 19 45,628,955 (GRCm39) missense probably benign 0.09
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
R6829:Fbxw4 UTSW 19 45,624,813 (GRCm39) missense possibly damaging 0.46
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
Posted On 2016-08-02