Incidental Mutation 'IGL01418:Fbxo34'
ID80294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo34
Ensembl Gene ENSMUSG00000037536
Gene NameF-box protein 34
Synonyms5830426G16Rik, 2900057B08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01418
Quality Score
Status
Chromosome14
Chromosomal Location47450421-47531962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 47530784 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 585 (C585S)
Ref Sequence ENSEMBL: ENSMUSP00000044675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043112] [ENSMUST00000095941] [ENSMUST00000163324] [ENSMUST00000165714] [ENSMUST00000168833] [ENSMUST00000226395] [ENSMUST00000226432] [ENSMUST00000226954] [ENSMUST00000228019] [ENSMUST00000228668] [ENSMUST00000228740]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043112
AA Change: C585S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: C585S

DomainStartEndE-ValueType
low complexity region 8 45 N/A INTRINSIC
FBOX 613 653 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095941
AA Change: C534S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: C534S

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163324
AA Change: C534S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: C534S

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165714
AA Change: C534S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: C534S

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168833
AA Change: C534S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: C534S

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226395
Predicted Effect probably benign
Transcript: ENSMUST00000226432
Predicted Effect probably benign
Transcript: ENSMUST00000226954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227162
Predicted Effect probably benign
Transcript: ENSMUST00000227601
Predicted Effect probably benign
Transcript: ENSMUST00000228019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228634
Predicted Effect probably benign
Transcript: ENSMUST00000228668
Predicted Effect probably benign
Transcript: ENSMUST00000228740
Coding Region Coverage
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 FBXO34, 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Fbxo34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Fbxo34 APN 14 47529474 missense probably damaging 0.97
IGL01337:Fbxo34 APN 14 47530217 missense probably benign 0.05
IGL02069:Fbxo34 APN 14 47529613 missense probably damaging 1.00
IGL02829:Fbxo34 APN 14 47529689 missense probably benign 0.00
R0601:Fbxo34 UTSW 14 47530257 missense probably benign
R0714:Fbxo34 UTSW 14 47530029 missense probably damaging 1.00
R1186:Fbxo34 UTSW 14 47530586 missense probably damaging 0.99
R1714:Fbxo34 UTSW 14 47529201 missense probably damaging 1.00
R1842:Fbxo34 UTSW 14 47531007 missense probably damaging 0.98
R2127:Fbxo34 UTSW 14 47530106 missense probably damaging 0.98
R4199:Fbxo34 UTSW 14 47530997 missense probably damaging 1.00
R4649:Fbxo34 UTSW 14 47529628 missense probably damaging 1.00
R4801:Fbxo34 UTSW 14 47530869 missense probably damaging 1.00
R4802:Fbxo34 UTSW 14 47530869 missense probably damaging 1.00
R4906:Fbxo34 UTSW 14 47529454 missense probably benign 0.26
R5475:Fbxo34 UTSW 14 47529345 missense probably benign 0.01
R5888:Fbxo34 UTSW 14 47529719 missense probably damaging 0.98
R6573:Fbxo34 UTSW 14 47529667 missense possibly damaging 0.61
R7236:Fbxo34 UTSW 14 47530384 missense probably benign 0.00
R7257:Fbxo34 UTSW 14 47500872 critical splice donor site probably null
R7381:Fbxo34 UTSW 14 47530535 missense probably benign 0.02
R7515:Fbxo34 UTSW 14 47530341 missense possibly damaging 0.84
R7562:Fbxo34 UTSW 14 47529678 missense probably benign 0.00
Posted On2013-11-05