Incidental Mutation 'R9620:Fbxo34'
ID 724740
Institutional Source Beutler Lab
Gene Symbol Fbxo34
Ensembl Gene ENSMUSG00000037536
Gene Name F-box protein 34
Synonyms 5830426G16Rik, 2900057B08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9620 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 47709992-47769419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47768725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 746 (Y746C)
Ref Sequence ENSEMBL: ENSMUSP00000044675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043112] [ENSMUST00000095941] [ENSMUST00000163324] [ENSMUST00000165714] [ENSMUST00000168833] [ENSMUST00000226395] [ENSMUST00000226432] [ENSMUST00000228019] [ENSMUST00000228668] [ENSMUST00000228740]
AlphaFold Q80XI1
Predicted Effect probably damaging
Transcript: ENSMUST00000043112
AA Change: Y746C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: Y746C

DomainStartEndE-ValueType
low complexity region 8 45 N/A INTRINSIC
FBOX 613 653 1.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095941
AA Change: Y695C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: Y695C

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163324
AA Change: Y695C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: Y695C

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165714
AA Change: Y695C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: Y695C

DomainStartEndE-ValueType
FBOX 562 602 1.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168833
AA Change: Y695C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: Y695C

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: 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: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 G T 18: 10,704,605 (GRCm39) T151K possibly damaging Het
Acsf2 C T 11: 94,463,412 (GRCm39) W130* probably null Het
Aldh16a1 G A 7: 44,797,413 (GRCm39) R132* probably null Het
Amer3 C T 1: 34,628,043 (GRCm39) P761S probably benign Het
Amotl1 G T 9: 14,459,969 (GRCm39) D886E probably damaging Het
Cacna1s T C 1: 136,035,909 (GRCm39) F1383S probably damaging Het
Col14a1 T A 15: 55,225,781 (GRCm39) V148E unknown Het
Col9a2 T A 4: 120,910,403 (GRCm39) probably null Het
Cyp2a5 T A 7: 26,536,636 (GRCm39) M205K possibly damaging Het
Dcst2 A T 3: 89,277,825 (GRCm39) Q466L possibly damaging Het
Ecel1 T C 1: 87,080,853 (GRCm39) I350V possibly damaging Het
Enthd1 G A 15: 80,336,901 (GRCm39) T511I probably benign Het
Exoc6b T A 6: 84,988,302 (GRCm39) K92* probably null Het
Fam181a T G 12: 103,282,591 (GRCm39) Y165* probably null Het
Fgfr4 T A 13: 55,308,994 (GRCm39) S372T possibly damaging Het
Fmo1 A G 1: 162,661,390 (GRCm39) F298L probably benign Het
Gad1 A C 2: 70,404,620 (GRCm39) D170A possibly damaging Het
Garin2 A C 12: 78,762,077 (GRCm39) D247A probably damaging Het
Golgb1 T C 16: 36,739,811 (GRCm39) S2758P probably benign Het
Golm2 T C 2: 121,737,242 (GRCm39) V261A probably benign Het
H2az2 A T 11: 6,379,094 (GRCm39) probably null Het
Ilkap A G 1: 91,303,973 (GRCm39) C163R Het
Krt9 A T 11: 100,079,186 (GRCm39) D735E unknown Het
Lipo3 A T 19: 33,559,629 (GRCm39) C80* probably null Het
Lpcat3 C T 6: 124,680,543 (GRCm39) P478L probably damaging Het
Luc7l3 G A 11: 94,212,545 (GRCm39) R24C unknown Het
Mafa T A 15: 75,619,161 (GRCm39) H204L probably benign Het
Mapk10 A C 5: 103,114,473 (GRCm39) V305G probably damaging Het
Mgat1 T C 11: 49,152,122 (GRCm39) F202L probably benign Het
Mical2 A T 7: 111,980,403 (GRCm39) T126S probably benign Het
Mill1 G A 7: 17,997,027 (GRCm39) R206H probably benign Het
Nlrc5 A T 8: 95,203,034 (GRCm39) Y378F probably benign Het
Nlrp9a G T 7: 26,250,469 (GRCm39) R78L probably damaging Het
Or10b1 G T 10: 78,356,128 (GRCm39) A229S probably benign Het
Or52i2 A T 7: 102,320,011 (GRCm39) I295F possibly damaging Het
Or8g50 A T 9: 39,648,287 (GRCm39) M59L Het
Orc6 A T 8: 86,026,430 (GRCm39) probably benign Het
Pate14 A G 9: 36,548,498 (GRCm39) probably null Het
Pcdhgb5 C T 18: 37,864,486 (GRCm39) Q94* probably null Het
Pcnx1 A G 12: 81,996,960 (GRCm39) D952G probably damaging Het
Ppfia2 A T 10: 106,749,519 (GRCm39) H1135L Het
Prmt2 A T 10: 76,061,213 (GRCm39) I91N probably damaging Het
Ptprm A G 17: 67,116,484 (GRCm39) Y932H probably damaging Het
Qrich2 T C 11: 116,337,946 (GRCm39) K154R probably damaging Het
Rapgef4 A G 2: 72,036,051 (GRCm39) T515A probably benign Het
Rgmb G A 17: 16,041,279 (GRCm39) R103* probably null Het
Ripk1 T G 13: 34,210,806 (GRCm39) S334A possibly damaging Het
Rnf5 C T 17: 34,820,721 (GRCm39) G147S possibly damaging Het
Ryr1 T C 7: 28,715,138 (GRCm39) Y4662C unknown Het
Secisbp2l A G 2: 125,589,394 (GRCm39) M718T probably damaging Het
Slc16a6 T C 11: 109,354,322 (GRCm39) T100A probably benign Het
Slc27a6 T A 18: 58,742,887 (GRCm39) M525K probably damaging Het
Slco2a1 G C 9: 102,962,065 (GRCm39) C579S probably damaging Het
Snx14 A G 9: 88,263,794 (GRCm39) S864P probably damaging Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Sptbn2 T C 19: 4,800,535 (GRCm39) L2250P probably damaging Het
Tlr6 A T 5: 65,112,146 (GRCm39) S254T possibly damaging Het
Trap1 A T 16: 3,858,083 (GRCm39) Y675* probably null Het
Ttc9b C A 7: 27,353,512 (GRCm39) A54E probably damaging Het
Unc45a A C 7: 79,975,403 (GRCm39) Y934D probably damaging Het
Usp17ld A G 7: 102,900,179 (GRCm39) L251P possibly damaging Het
Usp42 A G 5: 143,703,154 (GRCm39) V489A probably damaging Het
Vars1 A G 17: 35,235,001 (GRCm39) T1277A unknown Het
Vmn2r117 A G 17: 23,697,450 (GRCm39) S81P probably damaging Het
Vmn2r69 T A 7: 85,061,504 (GRCm39) I157F probably benign Het
Zfp697 A G 3: 98,335,182 (GRCm39) S316G probably damaging Het
Zfp729b T A 13: 67,739,787 (GRCm39) H826L probably damaging 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
R7236:Fbxo34 UTSW 14 47,767,841 (GRCm39) missense probably benign 0.00
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
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'- TGGCACCCCAAACCCTATTG -3'
(R):5'- CAAGAGTTCTTCACAGCTGGATAGG -3'

Sequencing Primer
(F):5'- AAACCCTATTGCCAGGCTTTG -3'
(R):5'- GGTTTAATGTGAGGCACCACCATAC -3'
Posted On 2022-09-12