Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02162:Fbxw5'

282508

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 #

IGL02162

Quality Score

Status

Chromosome

Chromosomal Location

25390762-25395482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25393283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 16 (Q16K)

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 damaging
Transcript: ENSMUST00000015239
AA Change: Q225K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: Q225K

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 damaging
Transcript: ENSMUST00000124375
AA Change: Q16K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: Q16K

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: ENSMUST00000135456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang5	T	C	14: 44,199,966 (GRCm39)	L10S	probably damaging	Het
Cdk5rap1	T	C	2: 154,177,489 (GRCm39)	T577A	probably damaging	Het
Clca3a1	G	T	3: 144,460,564 (GRCm39)	P297T	probably damaging	Het
Col9a2	A	T	4: 120,911,531 (GRCm39)		probably benign	Het
Ctss	A	G	3: 95,454,132 (GRCm39)	K227R	probably benign	Het
Dmxl1	G	A	18: 50,094,230 (GRCm39)	R2902Q	probably benign	Het
Dnah10	G	T	5: 124,881,810 (GRCm39)	A2862S	probably damaging	Het
Elp1	A	G	4: 56,796,502 (GRCm39)		probably null	Het
Fcgbp	G	A	7: 27,774,660 (GRCm39)	C78Y	probably damaging	Het
Gm20547	T	A	17: 35,076,003 (GRCm39)	Y688F	possibly damaging	Het
Gpaa1	T	C	15: 76,216,353 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,298,671 (GRCm39)	H63R	possibly damaging	Het
Ikbke	A	G	1: 131,201,452 (GRCm39)	S132P	possibly damaging	Het
Kirrel2	A	G	7: 30,153,089 (GRCm39)	I340T	probably benign	Het
Lipo5	A	T	19: 33,446,163 (GRCm39)		probably benign	Het
Nfkbie	T	G	17: 45,867,242 (GRCm39)		probably null	Het
Ntng1	G	T	3: 109,842,311 (GRCm39)	S154*	probably null	Het
Or6c208	C	T	10: 129,223,973 (GRCm39)	P157L	probably benign	Het
Or8b12b	A	G	9: 37,684,227 (GRCm39)	I91V	probably benign	Het
Pbld2	T	C	10: 62,907,179 (GRCm39)		probably benign	Het
Phaf1	C	T	8: 105,966,605 (GRCm39)		probably benign	Het
Plec	C	T	15: 76,064,360 (GRCm39)	M1971I	probably benign	Het
Ppp1r3a	A	T	6: 14,717,714 (GRCm39)	F1067I	probably damaging	Het
Qpctl	A	G	7: 18,878,606 (GRCm39)	F290L	possibly damaging	Het
Sorcs3	A	T	19: 48,523,970 (GRCm39)	Y288F	probably damaging	Het
St8sia3	A	G	18: 64,398,651 (GRCm39)	N37D	probably benign	Het
Vmn2r109	T	C	17: 20,774,422 (GRCm39)	D311G	probably benign	Het
Zbtb44	A	G	9: 30,964,688 (GRCm39)	I33V	probably benign	Het
Zfp267	T	C	3: 36,218,210 (GRCm39)	F78L	probably benign	Het
Zfp541	C	A	7: 15,813,393 (GRCm39)	T682K	possibly 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
IGL02261:Fbxw5	APN	2	25,393,746 (GRCm39)	missense	probably benign	0.01
IGL02298:Fbxw5	APN	2	25,394,456 (GRCm39)	nonsense	probably null
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