Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Fbxw2'

163581

Institutional Source

Beutler Lab

Gene Symbol

Fbxw2

Ensembl Gene

ENSMUSG00000035949

Gene Name

F-box and WD-40 domain protein 2

Synonyms

MD6, FBW2, Fwd2

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1489 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

34804514-34826311 bp(-) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCCCCC to GCCCCCCCC at 34812817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028220] [ENSMUST00000091020] [ENSMUST00000113075] [ENSMUST00000113077] [ENSMUST00000113078] [ENSMUST00000113080]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028220

SMART Domains

Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
FBOX	60	100	4.19e-7	SMART
WD40	137	174	4.48e-2	SMART
WD40	177	212	6.19e-1	SMART
WD40	215	254	4.44e-6	SMART
WD40	257	305	4.95e0	SMART
WD40	311	351	6.6e1	SMART
Blast:WD40	409	451	6e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000091020

SMART Domains

Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
WD40	8	45	4.48e-2	SMART
WD40	48	83	6.19e-1	SMART
WD40	86	125	4.44e-6	SMART
WD40	128	176	4.95e0	SMART
WD40	182	222	6.6e1	SMART
Blast:WD40	280	322	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113075

SMART Domains

Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
FBOX	60	100	4.19e-7	SMART
WD40	137	174	4.48e-2	SMART
WD40	177	212	6.19e-1	SMART
WD40	215	254	4.44e-6	SMART
WD40	257	305	4.95e0	SMART
WD40	311	351	6.6e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113077

SMART Domains

Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
FBOX	60	100	4.19e-7	SMART
WD40	137	189	1.03e0	SMART
WD40	192	240	4.95e0	SMART
WD40	246	286	6.6e1	SMART
Blast:WD40	344	386	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113078

SMART Domains

Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
FBOX	60	100	4.19e-7	SMART
WD40	137	174	4.48e-2	SMART
WD40	177	212	6.19e-1	SMART
WD40	215	254	4.44e-6	SMART
WD40	257	305	4.95e0	SMART
WD40	311	351	6.6e1	SMART
Blast:WD40	409	451	6e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113080

SMART Domains

Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949

Domain	Start	End	E-Value	Type
FBOX	60	100	4.19e-7	SMART
WD40	137	174	4.48e-2	SMART
WD40	177	212	6.19e-1	SMART
WD40	215	254	4.44e-6	SMART
WD40	257	305	4.95e0	SMART
WD40	311	351	6.6e1	SMART
Blast:WD40	409	451	6e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156130

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	probably benign	Het

Other mutations in Fbxw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Fbxw2	APN	2	34812949	missense	probably benign	0.38
IGL00498:Fbxw2	APN	2	34805941	missense	probably damaging	1.00
IGL01359:Fbxw2	APN	2	34822750	missense	probably benign	0.07
IGL01770:Fbxw2	APN	2	34811026	missense	possibly damaging	0.56
IGL01794:Fbxw2	APN	2	34811119	splice site	probably benign
IGL01934:Fbxw2	APN	2	34822606	missense	probably damaging	0.99
IGL02444:Fbxw2	APN	2	34805781	missense	probably benign	0.09
IGL02948:Fbxw2	APN	2	34805711	makesense	probably null
IGL03209:Fbxw2	APN	2	34822663	missense	probably damaging	1.00
silkpurse	UTSW	2	34812813	critical splice donor site	probably null
R0597:Fbxw2	UTSW	2	34811020	missense	probably damaging	0.99
R0636:Fbxw2	UTSW	2	34822847	nonsense	probably null
R1920:Fbxw2	UTSW	2	34822764	missense	probably damaging	1.00
R3177:Fbxw2	UTSW	2	34822750	missense	probably benign	0.07
R3277:Fbxw2	UTSW	2	34822750	missense	probably benign	0.07
R6194:Fbxw2	UTSW	2	34807404	missense	probably damaging	1.00
R6236:Fbxw2	UTSW	2	34822833	missense	probably damaging	1.00
R6258:Fbxw2	UTSW	2	34812813	critical splice donor site	probably null
R7382:Fbxw2	UTSW	2	34807302	missense	probably benign	0.01
R7636:Fbxw2	UTSW	2	34812944	missense	probably benign	0.00
R8361:Fbxw2	UTSW	2	34807414	missense	possibly damaging	0.90
R8841:Fbxw2	UTSW	2	34822832	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGTGAACCACCTTGTGCC -3'
(R):5'- TCTGCAAAGCTGTGGGATGTAAGC -3'

Sequencing Primer
(F):5'- TCCTTCCAGCATACATAAAGAGTG -3'
(R):5'- GCACAGGGCAGTGTGTTTAC -3'

Posted On

2014-03-28