Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02298:Fbxw5'

290224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxw5

Ensembl Gene

ENSMUSG00000015095

Gene Name

F-box and WD-40 domain protein 5

Synonyms

Fbw5

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

IGL02298

Quality Score

Status

Chromosome

Chromosomal Location

25390762-25395482 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 25394456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 143 (W143*)

Ref Sequence

ENSEMBL: ENSMUSP00000117676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000040042] [ENSMUST00000124375]

AlphaFold

Q9QXW2

Predicted Effect

probably benign
Transcript: ENSMUST00000015227

SMART Domains

Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	14	152	3.3e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000015239
AA Change: W427*

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: W427*

Domain	Start	End	E-Value	Type
FBOX	9	49	7.7e-6	SMART
WD40	81	120	3.11e-10	SMART
WD40	456	500	1.98e1	SMART
WD40	503	542	6.28e-6	SMART
low complexity region	553	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040042

SMART Domains

Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Lipocalin	48	186	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124258

Predicted Effect

probably null
Transcript: ENSMUST00000124375
AA Change: W143*

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: W143*

Domain	Start	End	E-Value	Type
SCOP:d1jjub_	116	246	1e-11	SMART
Blast:WD40	172	216	2e-25	BLAST
Blast:WD40	219	246	7e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,580,044 (GRCm39)	S2053P	probably benign	Het
Alkbh2	C	T	5: 114,263,633 (GRCm39)	E125K	probably benign	Het
Cd226	A	T	18: 89,225,175 (GRCm39)	D24V	probably damaging	Het
Clec2m	T	A	6: 129,308,527 (GRCm39)	M1L	probably benign	Het
Dync1h1	G	A	12: 110,607,322 (GRCm39)	E2638K	probably damaging	Het
Galk2	T	C	2: 125,701,290 (GRCm39)	S5P	probably benign	Het
Gtf2h2	A	G	13: 100,617,547 (GRCm39)	V205A	probably damaging	Het
Helb	C	A	10: 119,937,431 (GRCm39)	Q604H	probably damaging	Het
Ifih1	A	G	2: 62,440,783 (GRCm39)		probably null	Het
Map7d1	T	C	4: 126,127,714 (GRCm39)	E675G	unknown	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Shc4	T	C	2: 125,491,074 (GRCm39)	H488R	probably damaging	Het
Speer1d	T	G	5: 11,307,158 (GRCm39)	L12R	probably damaging	Het
Zfhx4	G	A	3: 5,309,364 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,812,002 (GRCm39)	N904K	probably damaging	Het

Other mutations in Fbxw5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Fbxw5	APN	2	25,393,453 (GRCm39)	missense	probably damaging	0.99
IGL02162:Fbxw5	APN	2	25,393,283 (GRCm39)	missense	probably damaging	0.96
IGL02261:Fbxw5	APN	2	25,393,746 (GRCm39)	missense	probably benign	0.01
IGL02822:Fbxw5	APN	2	25,393,022 (GRCm39)	missense	probably benign	0.06
R0416:Fbxw5	UTSW	2	25,393,251 (GRCm39)	missense	probably damaging	1.00
R0423:Fbxw5	UTSW	2	25,394,538 (GRCm39)	missense	possibly damaging	0.90
R0616:Fbxw5	UTSW	2	25,392,517 (GRCm39)	missense	probably damaging	1.00
R0730:Fbxw5	UTSW	2	25,394,630 (GRCm39)	missense	possibly damaging	0.49
R1660:Fbxw5	UTSW	2	25,393,286 (GRCm39)	critical splice donor site	probably null
R1697:Fbxw5	UTSW	2	25,392,473 (GRCm39)	missense	possibly damaging	0.88
R1737:Fbxw5	UTSW	2	25,393,596 (GRCm39)	missense	probably benign	0.01
R2030:Fbxw5	UTSW	2	25,394,810 (GRCm39)	missense	probably damaging	1.00
R2274:Fbxw5	UTSW	2	25,394,773 (GRCm39)	nonsense	probably null
R2406:Fbxw5	UTSW	2	25,394,195 (GRCm39)	missense	probably damaging	1.00
R3815:Fbxw5	UTSW	2	25,393,576 (GRCm39)	missense	possibly damaging	0.62
R4082:Fbxw5	UTSW	2	25,394,643 (GRCm39)	critical splice donor site	probably null
R4249:Fbxw5	UTSW	2	25,393,472 (GRCm39)	missense	probably damaging	0.98
R6170:Fbxw5	UTSW	2	25,393,615 (GRCm39)	missense	possibly damaging	0.96
R6502:Fbxw5	UTSW	2	25,392,448 (GRCm39)	missense	possibly damaging	0.68
R7826:Fbxw5	UTSW	2	25,392,561 (GRCm39)	nonsense	probably null
R9658:Fbxw5	UTSW	2	25,393,870 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16