Mutagenetix > Incidental Mutation

Incidental Mutation 'D4216:Fbxo33'

230

Institutional Source

Beutler Lab

Gene Symbol

Fbxo33

Ensembl Gene

ENSMUSG00000035329

Gene Name

F-box protein 33

Synonyms

5730501N20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

D4216 (G3) of strain honey

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59247441-59266511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59252836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 221 (V221E)

Ref Sequence

ENSEMBL: ENSMUSP00000035948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043204] [ENSMUST00000161351]

AlphaFold

Q8VE08

Predicted Effect

probably benign
Transcript: ENSMUST00000043204
AA Change: V221E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329
AA Change: V221E

Domain	Start	End	E-Value	Type
low complexity region	8	58	N/A	INTRINSIC
FBOX	74	114	3.3e-5	SMART
low complexity region	154	176	N/A	INTRINSIC
SCOP:d1a4ya_	262	347	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160204

Predicted Effect

probably benign
Transcript: ENSMUST00000161351

Predicted Effect

probably benign
Transcript: ENSMUST00000162855

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 58.2%
3x: 22.7%

Validation Efficiency

68% (27/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Frmpd2	T	A	14: 33,274,014 (GRCm39)	F1085L	probably damaging	Homo
Kcnrg	T	G	14: 61,849,242 (GRCm39)	Y234*	probably null	Homo
Mrgpra6	T	A	7: 46,838,504 (GRCm39)	L231F	probably damaging	Het
Naca	T	C	10: 127,880,109 (GRCm39)	S1714P	possibly damaging	Homo
Rapgef6	T	C	11: 54,559,572 (GRCm39)		probably benign	Homo
Ric8b	T	C	10: 84,851,005 (GRCm39)	L546P	probably damaging	Het
Slc34a2	A	G	5: 53,222,839 (GRCm39)	T310A	probably benign	Homo
Ssc5d	C	T	7: 4,946,982 (GRCm39)	T1112I	possibly damaging	Homo
Stau1	A	G	2: 166,791,670 (GRCm39)	V489A	probably benign	Homo

Other mutations in Fbxo33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Fbxo33	APN	12	59,249,456 (GRCm39)	missense	probably damaging	1.00
IGL03006:Fbxo33	APN	12	59,251,105 (GRCm39)	missense	probably benign	0.05
R0751:Fbxo33	UTSW	12	59,265,878 (GRCm39)	missense	probably damaging	1.00
R0762:Fbxo33	UTSW	12	59,251,285 (GRCm39)	missense	probably benign	0.02
R1686:Fbxo33	UTSW	12	59,251,626 (GRCm39)	missense	possibly damaging	0.62
R4085:Fbxo33	UTSW	12	59,247,591 (GRCm39)	utr 3 prime	probably benign
R4363:Fbxo33	UTSW	12	59,251,648 (GRCm39)	missense	probably damaging	1.00
R4646:Fbxo33	UTSW	12	59,251,217 (GRCm39)	missense	probably benign	0.18
R4751:Fbxo33	UTSW	12	59,247,714 (GRCm39)	intron	probably benign
R4807:Fbxo33	UTSW	12	59,265,998 (GRCm39)	missense	probably damaging	1.00
R5058:Fbxo33	UTSW	12	59,265,919 (GRCm39)	missense	probably benign	0.28
R5379:Fbxo33	UTSW	12	59,266,246 (GRCm39)	unclassified	probably benign
R5887:Fbxo33	UTSW	12	59,251,545 (GRCm39)	nonsense	probably null
R6170:Fbxo33	UTSW	12	59,251,435 (GRCm39)	missense	probably benign	0.11
R6244:Fbxo33	UTSW	12	59,252,865 (GRCm39)	missense	probably benign	0.29
R7378:Fbxo33	UTSW	12	59,251,157 (GRCm39)	nonsense	probably null
R7873:Fbxo33	UTSW	12	59,265,807 (GRCm39)	missense	possibly damaging	0.52
R8681:Fbxo33	UTSW	12	59,265,830 (GRCm39)	missense	probably benign	0.29
R9180:Fbxo33	UTSW	12	59,251,095 (GRCm39)	critical splice donor site	probably null
R9742:Fbxo33	UTSW	12	59,251,682 (GRCm39)	missense	probably damaging	1.00
R9762:Fbxo33	UTSW	12	59,251,708 (GRCm39)	missense	probably benign	0.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at position 666 of the Fbxo33 transcript in exon 2 of 4 total exons. Four transcripts of the Fbxo33 gene are displayed on Vega. The mutated nucleotide causes a valine to glutamic acid substitution at amino acid 221 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Fbxo33 gene encodes a 562 amino acid substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The protein probably recognizes and binds to phosphorylated target proteins and contains an F-box domain at residues 68-114 (Uniprot Q8VE08).

The V221E change is predicted to be benign by the PolyPhen program.

Posted On

2010-06-23