Incidental Mutation 'R9183:Fbxo28'
ID 697158
Institutional Source Beutler Lab
Gene Symbol Fbxo28
Ensembl Gene ENSMUSG00000047539
Gene Name F-box protein 28
Synonyms 5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik
MMRRC Submission 068950-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R9183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 182140667-182169171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182157526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000054718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051431] [ENSMUST00000192544] [ENSMUST00000194213] [ENSMUST00000195061]
AlphaFold Q8BIG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000051431
AA Change: V97A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:F-box 63 94 7.8e-6 PFAM
coiled coil region 273 332 N/A INTRINSIC
low complexity region 335 344 N/A INTRINSIC
low complexity region 357 368 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000192544
AA Change: V97A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:F-box 62 101 8.7e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194213
AA Change: V97A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:F-box 63 101 2e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000195061
AA Change: V91A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539
AA Change: V91A

DomainStartEndE-ValueType
low complexity region 7 49 N/A INTRINSIC
Pfam:F-box 56 95 1.1e-5 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 FBXO28, 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,559 (GRCm38) C313R probably damaging Het
Adap2 A G 11: 80,045,882 (GRCm39) N54S probably damaging Het
Adcy8 T C 15: 64,694,116 (GRCm39) D387G probably damaging Het
Adgra1 G A 7: 139,455,716 (GRCm39) R448Q probably benign Het
Antxr1 A T 6: 87,264,025 (GRCm39) D148E probably damaging Het
Ap3d1 A T 10: 80,545,627 (GRCm39) V1034E probably null Het
Arpp21 C T 9: 111,895,066 (GRCm39) A731T probably benign Het
Asl T A 5: 130,042,312 (GRCm39) R255W probably damaging Het
Asxl1 T A 2: 153,239,840 (GRCm39) S544T probably damaging Het
Atp8a1 A C 5: 67,924,378 (GRCm39) Y329D Het
Calcr A T 6: 3,711,463 (GRCm39) I186N probably damaging Het
Cdh18 T C 15: 23,227,065 (GRCm39) probably null Het
Celsr3 T C 9: 108,706,595 (GRCm39) L1026P probably damaging Het
Ces2a T A 8: 105,460,774 (GRCm39) V24E possibly damaging Het
Clybl T C 14: 122,639,387 (GRCm39) I317T probably damaging Het
Col13a1 T A 10: 61,699,758 (GRCm39) T476S unknown Het
Cyp4f15 T C 17: 32,919,205 (GRCm39) S343P probably damaging Het
D630003M21Rik T C 2: 158,059,112 (GRCm39) T263A probably benign Het
Frem2 C T 3: 53,427,486 (GRCm39) V2889I probably damaging Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gen1 T A 12: 11,299,186 (GRCm39) K338M probably damaging Het
Gfi1 A G 5: 107,873,819 (GRCm39) probably null Het
Gfod2 A G 8: 106,449,653 (GRCm39) S95P probably benign Het
H2-T13 T A 17: 36,392,382 (GRCm39) H31L unknown Het
Heatr1 A G 13: 12,436,266 (GRCm39) Q1224R probably damaging Het
Hectd4 A G 5: 121,437,551 (GRCm39) K1059E possibly damaging Het
Hmgcs2 C T 3: 98,198,232 (GRCm39) A45V possibly damaging Het
Hnmt C A 2: 23,893,655 (GRCm39) V280L probably benign Het
Ifi35 G T 11: 101,348,091 (GRCm39) V66L probably benign Het
Kcnn2 T C 18: 45,694,379 (GRCm39) I188T probably damaging Het
Klhl8 C A 5: 104,012,111 (GRCm39) A575S probably benign Het
Krt6a T C 15: 101,601,446 (GRCm39) D225G probably benign Het
Lrtm2 T C 6: 119,294,384 (GRCm39) Y249C probably damaging Het
Med12l C T 3: 58,984,498 (GRCm39) R479C probably damaging Het
Muc5ac A T 7: 141,352,637 (GRCm39) Y709F possibly damaging Het
Nsd2 G A 5: 34,028,796 (GRCm39) A162T probably damaging Het
Or6c38 A G 10: 128,929,201 (GRCm39) M214T probably benign Het
Phaf1 C A 8: 105,957,840 (GRCm39) Q49K probably benign Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Prkaa1 A T 15: 5,205,969 (GRCm39) E275V probably damaging Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rhcg A T 7: 79,244,564 (GRCm39) L496* probably null Het
Rnf213 A G 11: 119,318,448 (GRCm39) E1084G Het
Safb2 ACTTCTTCT ACTTCT 17: 56,878,292 (GRCm39) probably benign Het
Slc14a1 T A 18: 78,154,598 (GRCm39) I263F probably benign Het
Slc40a1 C T 1: 45,948,671 (GRCm39) M536I possibly damaging Het
Slco6c1 T A 1: 96,996,775 (GRCm39) probably null Het
Stk32a T C 18: 43,394,405 (GRCm39) F118S probably damaging Het
Sytl1 G T 4: 132,980,934 (GRCm39) R467S possibly damaging Het
Thbs2 T C 17: 14,896,526 (GRCm39) I788V probably benign Het
Tmed6 T A 8: 107,788,390 (GRCm39) R186* probably null Het
Trnau1ap G A 4: 132,052,565 (GRCm39) R78C probably damaging Het
Trpv1 A T 11: 73,135,039 (GRCm39) D412V possibly damaging Het
Ttc16 C T 2: 32,647,329 (GRCm39) V688M probably benign Het
Ubr5 C A 15: 37,997,420 (GRCm39) L1738F Het
Vmn2r89 A G 14: 51,692,501 (GRCm39) I101M probably benign Het
Wdr27 C T 17: 15,148,651 (GRCm39) R114Q possibly damaging Het
Wdr48 A G 9: 119,749,730 (GRCm39) H563R possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Wwox T C 8: 115,433,110 (GRCm39) S259P probably damaging Het
Zfp160 T A 17: 21,240,354 (GRCm39) D12E possibly damaging Het
Zfp800 A G 6: 28,243,172 (GRCm39) Y598H probably benign Het
Zfp970 T C 2: 177,167,536 (GRCm39) L370P probably damaging Het
Zmat5 A T 11: 4,672,431 (GRCm39) D16V probably damaging Het
Other mutations in Fbxo28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Fbxo28 APN 1 182,144,577 (GRCm39) missense probably damaging 0.96
IGL02936:Fbxo28 APN 1 182,169,093 (GRCm39) missense unknown
IGL03269:Fbxo28 APN 1 182,144,583 (GRCm39) missense possibly damaging 0.50
R0040:Fbxo28 UTSW 1 182,153,805 (GRCm39) intron probably benign
R0394:Fbxo28 UTSW 1 182,144,580 (GRCm39) missense probably benign 0.31
R1800:Fbxo28 UTSW 1 182,169,099 (GRCm39) missense unknown
R1846:Fbxo28 UTSW 1 182,153,845 (GRCm39) missense probably benign 0.02
R1891:Fbxo28 UTSW 1 182,145,389 (GRCm39) missense probably benign 0.35
R2113:Fbxo28 UTSW 1 182,157,490 (GRCm39) missense probably damaging 0.99
R2698:Fbxo28 UTSW 1 182,144,719 (GRCm39) missense probably benign 0.09
R4022:Fbxo28 UTSW 1 182,157,475 (GRCm39) missense possibly damaging 0.91
R4952:Fbxo28 UTSW 1 182,153,950 (GRCm39) missense probably damaging 1.00
R5167:Fbxo28 UTSW 1 182,145,558 (GRCm39) missense possibly damaging 0.71
R6196:Fbxo28 UTSW 1 182,157,454 (GRCm39) missense probably damaging 0.99
R6233:Fbxo28 UTSW 1 182,169,073 (GRCm39) missense unknown
R6920:Fbxo28 UTSW 1 182,168,986 (GRCm39) missense probably benign 0.23
R6935:Fbxo28 UTSW 1 182,169,025 (GRCm39) missense unknown
R7557:Fbxo28 UTSW 1 182,169,000 (GRCm39) missense unknown
R8906:Fbxo28 UTSW 1 182,144,634 (GRCm39) missense probably damaging 1.00
R9245:Fbxo28 UTSW 1 182,145,566 (GRCm39) missense possibly damaging 0.71
Z1176:Fbxo28 UTSW 1 182,145,435 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACGGGATGTTCTTTGCTATAAAG -3'
(R):5'- GCTTGGCCCAAACATTAGTCAG -3'

Sequencing Primer
(F):5'- ACGTATATATGAAAAATCTGTGGGG -3'
(R):5'- GTCAGTTCTTAGTGAGACTCCACAG -3'
Posted On 2022-02-07