Incidental Mutation 'R0394:Fbxo28'
ID31831
Institutional Source Beutler Lab
Gene Symbol Fbxo28
Ensembl Gene ENSMUSG00000047539
Gene NameF-box protein 28
SynonymsD1Ertd578e, 4833428J17Rik, Fbx28, 5730505P19Rik
MMRRC Submission 038600-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.426) question?
Stock #R0394 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location182313102-182341629 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 182317015 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 328 (M328T)
Ref Sequence ENSEMBL: ENSMUSP00000054718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051431] [ENSMUST00000192544] [ENSMUST00000194213] [ENSMUST00000195061]
Predicted Effect probably benign
Transcript: ENSMUST00000051431
AA Change: M328T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: M328T

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 0.178 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 138,067,304 S751R probably damaging Het
4933417A18Rik T C 13: 34,932,653 probably benign Het
Abca8a A G 11: 110,026,343 V1610A probably damaging Het
Actl10 A T 2: 154,553,037 H202L probably benign Het
Alox12 A T 11: 70,245,935 V489E probably damaging Het
Ap4m1 T A 5: 138,172,203 F5I probably benign Het
Atn1 T C 6: 124,749,733 probably benign Het
Atrnl1 T A 19: 57,673,176 N529K probably benign Het
B3gntl1 C T 11: 121,619,715 G336D probably damaging Het
Bmp1 G A 14: 70,490,034 A703V probably damaging Het
Brat1 T G 5: 140,718,386 L798R probably damaging Het
Cacna1c C T 6: 118,625,497 G1302R probably damaging Het
Cdr2 A T 7: 120,958,731 D190E probably benign Het
Cenpe T C 3: 135,216,425 probably benign Het
Clstn1 A G 4: 149,644,178 D687G probably benign Het
Coro1a A G 7: 126,700,640 F337L probably benign Het
Ddx49 T A 8: 70,296,925 I252F probably damaging Het
Dennd2a T A 6: 39,522,812 D273V possibly damaging Het
Derl2 A T 11: 71,014,561 F32I probably benign Het
Dmrta1 A G 4: 89,692,039 Y412C probably damaging Het
Dsg1a A G 18: 20,333,750 N559S probably damaging Het
Dusp26 G T 8: 31,091,959 R27L probably benign Het
Eif2ak3 T C 6: 70,885,218 I492T probably benign Het
Exoc7 G T 11: 116,300,398 Q219K probably damaging Het
F2r T C 13: 95,604,476 T184A probably damaging Het
Fbf1 G A 11: 116,152,462 probably benign Het
Fsip2 T A 2: 82,991,075 D5717E possibly damaging Het
Gnpat C A 8: 124,880,225 S373R possibly damaging Het
Golgb1 G T 16: 36,875,579 probably benign Het
Greb1l T C 18: 10,523,374 V844A probably damaging Het
Hps1 G T 19: 42,770,899 probably null Het
Inppl1 G T 7: 101,828,195 probably benign Het
Isca1 C T 13: 59,758,885 probably null Het
Itgb2 T A 10: 77,542,475 C46S probably damaging Het
Kifc5b C T 17: 26,923,082 T178M probably benign Het
Krt80 T C 15: 101,352,299 T22A probably damaging Het
L3mbtl2 C T 15: 81,668,741 A125V probably damaging Het
Ltbp2 C T 12: 84,806,424 probably benign Het
Mettl18 A G 1: 163,996,341 D77G probably benign Het
Mfsd2a A G 4: 122,950,168 L336P probably benign Het
Mgat4b A G 11: 50,230,919 probably null Het
Mtmr14 C T 6: 113,280,688 R233* probably null Het
Nbea T C 3: 56,029,907 Y761C probably damaging Het
Neb A T 2: 52,177,559 probably null Het
Nup85 T G 11: 115,564,531 M1R probably null Het
Olfr814 T A 10: 129,873,942 I272L probably benign Het
Oxr1 T A 15: 41,817,197 M177K probably damaging Het
Pgm2l1 A G 7: 100,252,198 Y98C probably damaging Het
Pi4kb G T 3: 94,996,804 probably benign Het
Pi4kb G A 3: 94,996,805 probably benign Het
Pirb T A 7: 3,719,248 S199C probably benign Het
Prss23 A C 7: 89,509,847 I338S probably damaging Het
Rapgef3 A T 15: 97,757,819 probably benign Het
Rdh7 T A 10: 127,884,670 T278S probably benign Het
Rnf219 T C 14: 104,478,853 R695G possibly damaging Het
Rrp1b A G 17: 32,058,564 D606G probably benign Het
Rxfp1 T A 3: 79,652,377 Y379F possibly damaging Het
Rxfp2 T C 5: 150,067,388 V514A probably benign Het
Scel A T 14: 103,562,518 E202V probably benign Het
Slc25a36 G A 9: 97,080,204 A244V probably benign Het
Slc2a13 T G 15: 91,516,392 Q209P probably damaging Het
Slc38a6 A G 12: 73,352,530 N456S probably benign Het
Slc6a12 G T 6: 121,346,998 probably null Het
Spag6l T C 16: 16,780,629 I333V probably benign Het
Spen G A 4: 141,474,203 A2371V probably benign Het
St6galnac1 T C 11: 116,766,640 D366G probably damaging Het
Stk33 T C 7: 109,341,489 S5G probably benign Het
Tle2 T C 10: 81,577,648 L84P probably damaging Het
Tmem14a T C 1: 21,226,652 M78T probably damaging Het
Top2b T A 14: 16,413,556 probably null Het
Trmt13 A G 3: 116,582,650 F364S probably damaging Het
Unkl T A 17: 25,230,777 probably null Het
Uvrag A G 7: 99,004,719 probably benign Het
Vmn2r8 T A 5: 108,802,072 N303I probably benign Het
Vsig10l A G 7: 43,465,455 N360S probably damaging Het
Zdhhc25 T C 15: 88,600,920 Y153H probably damaging Het
Zfp646 T C 7: 127,883,262 V1537A possibly damaging Het
Zfp664 T A 5: 124,886,065 Y174* probably null Het
Other mutations in Fbxo28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Fbxo28 APN 1 182317012 missense probably damaging 0.96
IGL02936:Fbxo28 APN 1 182341528 missense unknown
IGL03269:Fbxo28 APN 1 182317018 missense possibly damaging 0.50
R0040:Fbxo28 UTSW 1 182326240 intron probably benign
R1800:Fbxo28 UTSW 1 182341534 missense unknown
R1846:Fbxo28 UTSW 1 182326280 missense probably benign 0.02
R1891:Fbxo28 UTSW 1 182317824 missense probably benign 0.35
R2113:Fbxo28 UTSW 1 182329925 missense probably damaging 0.99
R2698:Fbxo28 UTSW 1 182317154 missense probably benign 0.09
R4022:Fbxo28 UTSW 1 182329910 missense possibly damaging 0.91
R4952:Fbxo28 UTSW 1 182326385 missense probably damaging 1.00
R5167:Fbxo28 UTSW 1 182317993 missense possibly damaging 0.71
R6196:Fbxo28 UTSW 1 182329889 missense probably damaging 0.99
R6233:Fbxo28 UTSW 1 182341508 missense unknown
R6920:Fbxo28 UTSW 1 182341421 missense probably benign 0.23
R6935:Fbxo28 UTSW 1 182341460 missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTTAAACTCTCAGCCACGGAC -3'
(R):5'- CCTGACAACAATGCAGCTCTTCTCC -3'

Sequencing Primer
(F):5'- CCGAAGTCGTTTGGATTTCC -3'
(R):5'- CCGTCCAGACAAGAGGTTAC -3'
Posted On2013-04-24