Incidental Mutation 'R7236:Fbxo34'
ID 562846
Institutional Source Beutler Lab
Gene Symbol Fbxo34
Ensembl Gene ENSMUSG00000037536
Gene Name F-box protein 34
Synonyms 5830426G16Rik, 2900057B08Rik
MMRRC Submission 045306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7236 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 47709992-47769419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47767841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 451 (D451E)
Ref Sequence ENSEMBL: ENSMUSP00000044675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043112] [ENSMUST00000095941] [ENSMUST00000163324] [ENSMUST00000165714] [ENSMUST00000168833] [ENSMUST00000226395] [ENSMUST00000226432] [ENSMUST00000226954] [ENSMUST00000228019] [ENSMUST00000228668] [ENSMUST00000228740]
AlphaFold Q80XI1
Predicted Effect probably benign
Transcript: ENSMUST00000043112
AA Change: D451E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: D451E

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: D400E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: D400E

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163324
AA Change: D400E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: D400E

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165714
AA Change: D400E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: D400E

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168833
AA Change: D400E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: D400E

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 probably benign
Transcript: ENSMUST00000227601
Predicted Effect probably benign
Transcript: ENSMUST00000228019
Predicted Effect probably benign
Transcript: ENSMUST00000228668
Predicted Effect probably benign
Transcript: ENSMUST00000228740
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
B3galnt1 T C 3: 69,482,950 (GRCm39) K104E probably benign Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cct2 A T 10: 116,897,464 (GRCm39) D93E probably benign Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Mrpl15 A T 1: 4,846,711 (GRCm39) N288K probably benign Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Ralgapb A G 2: 158,282,747 (GRCm39) D504G probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Tsc2 A T 17: 24,842,568 (GRCm39) M286K possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (GRCm39) probably null Het
Other mutations in Fbxo34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Fbxo34 APN 14 47,766,931 (GRCm39) missense probably damaging 0.97
IGL01337:Fbxo34 APN 14 47,767,674 (GRCm39) missense probably benign 0.05
IGL01418:Fbxo34 APN 14 47,768,241 (GRCm39) missense possibly damaging 0.46
IGL02069:Fbxo34 APN 14 47,767,070 (GRCm39) missense probably damaging 1.00
IGL02829:Fbxo34 APN 14 47,767,146 (GRCm39) missense probably benign 0.00
R0601:Fbxo34 UTSW 14 47,767,714 (GRCm39) missense probably benign
R0714:Fbxo34 UTSW 14 47,767,486 (GRCm39) missense probably damaging 1.00
R1186:Fbxo34 UTSW 14 47,768,043 (GRCm39) missense probably damaging 0.99
R1714:Fbxo34 UTSW 14 47,766,658 (GRCm39) missense probably damaging 1.00
R1842:Fbxo34 UTSW 14 47,768,464 (GRCm39) missense probably damaging 0.98
R2127:Fbxo34 UTSW 14 47,767,563 (GRCm39) missense probably damaging 0.98
R4199:Fbxo34 UTSW 14 47,768,454 (GRCm39) missense probably damaging 1.00
R4649:Fbxo34 UTSW 14 47,767,085 (GRCm39) missense probably damaging 1.00
R4801:Fbxo34 UTSW 14 47,768,326 (GRCm39) missense probably damaging 1.00
R4802:Fbxo34 UTSW 14 47,768,326 (GRCm39) missense probably damaging 1.00
R4906:Fbxo34 UTSW 14 47,766,911 (GRCm39) missense probably benign 0.26
R5475:Fbxo34 UTSW 14 47,766,802 (GRCm39) missense probably benign 0.01
R5888:Fbxo34 UTSW 14 47,767,176 (GRCm39) missense probably damaging 0.98
R6573:Fbxo34 UTSW 14 47,767,124 (GRCm39) missense possibly damaging 0.61
R7257:Fbxo34 UTSW 14 47,738,329 (GRCm39) critical splice donor site probably null
R7381:Fbxo34 UTSW 14 47,767,992 (GRCm39) missense probably benign 0.02
R7515:Fbxo34 UTSW 14 47,767,798 (GRCm39) missense possibly damaging 0.84
R7562:Fbxo34 UTSW 14 47,767,135 (GRCm39) missense probably benign 0.00
R8190:Fbxo34 UTSW 14 47,767,879 (GRCm39) missense possibly damaging 0.67
R9094:Fbxo34 UTSW 14 47,767,928 (GRCm39) missense probably benign 0.00
R9620:Fbxo34 UTSW 14 47,768,725 (GRCm39) missense probably damaging 1.00
R9632:Fbxo34 UTSW 14 47,768,724 (GRCm39) missense probably damaging 1.00
R9710:Fbxo34 UTSW 14 47,768,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGCCAGCGACAAAAGTG -3'
(R):5'- TCAAGGGAGTCTAAAGCCGC -3'

Sequencing Primer
(F):5'- AGAATCCCTTGCAGCCGGTATC -3'
(R):5'- GCCGGCCGGTCTTTCTCTAC -3'
Posted On 2019-06-26