Incidental Mutation 'R2698:Fbxo28'
ID 251266
Institutional Source Beutler Lab
Gene Symbol Fbxo28
Ensembl Gene ENSMUSG00000047539
Gene Name F-box protein 28
Synonyms 5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik
MMRRC Submission 040436-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R2698 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182140667-182169171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 182144719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 282 (I282F)
Ref Sequence ENSEMBL: ENSMUSP00000054718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051431] [ENSMUST00000192544] [ENSMUST00000194213] [ENSMUST00000195061]
AlphaFold Q8BIG4
Predicted Effect probably benign
Transcript: ENSMUST00000051431
AA Change: I282F

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: I282F

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 probably benign
Transcript: ENSMUST00000192544
SMART Domains Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:F-box 62 101 8.7e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193700
Predicted Effect probably benign
Transcript: ENSMUST00000194213
SMART Domains Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:F-box 63 101 2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195061
SMART Domains Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539

DomainStartEndE-ValueType
low complexity region 7 49 N/A INTRINSIC
Pfam:F-box 56 95 1.1e-5 PFAM
Meta Mutation Damage Score 0.0645 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,578,862 (GRCm39) R901G possibly damaging Het
Abhd18 T A 3: 40,885,401 (GRCm39) M262K probably benign Het
Ano2 C A 6: 125,689,309 (GRCm39) L145I probably benign Het
Ckap5 T C 2: 91,408,426 (GRCm39) W874R probably damaging Het
Cox4i1 G T 8: 121,396,102 (GRCm39) probably benign Het
Cwc27 A T 13: 104,943,259 (GRCm39) N94K probably damaging Het
Dcaf11 T C 14: 55,804,342 (GRCm39) S372P probably damaging Het
Dpysl4 A G 7: 138,676,681 (GRCm39) N356S probably damaging Het
Dusp8 A G 7: 141,635,701 (GRCm39) probably benign Het
Erc2 G A 14: 27,993,662 (GRCm39) V894M probably benign Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gabra4 T C 5: 71,729,421 (GRCm39) H453R probably benign Het
Glrx T A 13: 75,988,065 (GRCm39) probably null Het
Gm11541 A T 11: 94,586,441 (GRCm39) L102* probably null Het
Gm5113 T A 7: 29,878,150 (GRCm39) Y79* probably null Het
Gpr87 T A 3: 59,086,587 (GRCm39) N306I probably damaging Het
Hydin T A 8: 111,336,561 (GRCm39) Y5113N possibly damaging Het
Iqsec3 C T 6: 121,390,430 (GRCm39) probably benign Het
Kbtbd8 C A 6: 95,103,570 (GRCm39) Y406* probably null Het
Lamb1 G T 12: 31,348,882 (GRCm39) R590L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lnpk T C 2: 74,367,845 (GRCm39) E165G probably damaging Het
Lrp4 C T 2: 91,305,557 (GRCm39) R276C probably damaging Het
Lrrc7 T A 3: 157,841,028 (GRCm39) T1384S probably benign Het
Mia2 T C 12: 59,217,780 (GRCm39) probably null Het
Morc2a T C 11: 3,635,400 (GRCm39) V797A probably damaging Het
Mrps23 T C 11: 88,096,193 (GRCm39) probably benign Het
Muc17 A T 5: 137,175,484 (GRCm39) I62K probably damaging Het
Nlrp4g T A 9: 124,349,630 (GRCm38) noncoding transcript Het
Nptx1 A T 11: 119,435,669 (GRCm39) probably benign Het
Or1j20 T A 2: 36,760,208 (GRCm39) I210K possibly damaging Het
Pabpc1l T G 2: 163,886,302 (GRCm39) probably null Het
Pdcd6ip A T 9: 113,503,575 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Plcxd1 A G 5: 110,250,349 (GRCm39) Q230R probably benign Het
Psme4 T A 11: 30,824,282 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptch1 T A 13: 63,690,038 (GRCm39) N320Y probably damaging Het
Qars1 G A 9: 108,385,642 (GRCm39) V60I possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhag T C 17: 41,147,367 (GRCm39) S410P probably damaging Het
Rnf213 A G 11: 119,300,970 (GRCm39) K297E probably benign Het
Rps6ka4 T C 19: 6,814,720 (GRCm39) E294G probably benign Het
Scaf4 T A 16: 90,041,244 (GRCm39) I695F unknown Het
Scrn2 T C 11: 96,923,122 (GRCm39) probably benign Het
Scx T A 15: 76,342,363 (GRCm39) C188S probably damaging Het
Sdk1 G T 5: 142,197,805 (GRCm39) V1893L possibly damaging Het
Sema5a C A 15: 32,673,546 (GRCm39) Q795K probably damaging Het
Slc24a3 A G 2: 145,455,487 (GRCm39) S459G probably benign Het
Smurf1 A G 5: 144,820,372 (GRCm39) probably benign Het
Taar4 T C 10: 23,837,328 (GRCm39) Y313H probably damaging Het
Tmprss11c A G 5: 86,419,322 (GRCm39) F79S probably damaging Het
Tnfaip8l2 T A 3: 95,047,672 (GRCm39) I64F possibly damaging Het
Trbv13-1 A G 6: 41,093,372 (GRCm39) T102A probably damaging Het
Trpa1 A T 1: 14,976,222 (GRCm39) N160K probably damaging Het
Ttc22 A G 4: 106,496,435 (GRCm39) Y495C probably benign Het
Usp50 A G 2: 126,619,949 (GRCm39) I121T probably damaging Het
Vmn2r117 A G 17: 23,678,885 (GRCm39) S780P probably damaging Het
Vmn2r66 A T 7: 84,644,607 (GRCm39) V601D probably damaging Het
Wapl G A 14: 34,413,734 (GRCm39) A199T probably benign Het
Zfp658 A G 7: 43,222,969 (GRCm39) T415A possibly damaging Het
Zfp760 C T 17: 21,939,935 (GRCm39) T9I probably damaging Het
Zfp998 A G 13: 66,581,495 (GRCm39) S59P 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
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
R9183:Fbxo28 UTSW 1 182,157,526 (GRCm39) missense possibly damaging 0.50
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'- AGAGTCTATGGCTTCCGTTGC -3'
(R):5'- GAGACAGGAATGATTAGCCCTTTTG -3'

Sequencing Primer
(F):5'- AGGGGACTCCTCACTCTGC -3'
(R):5'- CAGGAATGATTAGCCCTTTTGAATGC -3'
Posted On 2014-12-04