Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01770:Fbxw2'

153830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxw2

Ensembl Gene

ENSMUSG00000035949

Gene Name

F-box and WD-40 domain protein 2

Synonyms

MD6, FBW2, Fwd2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01770

Quality Score

Status

Chromosome

Chromosomal Location

34694526-34716323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34701038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 194 (T194I)

Ref Sequence

ENSEMBL: ENSMUSP00000108700 (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
AA Change: T259I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: T259I

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
AA Change: T130I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: T130I

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
AA Change: T259I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: T259I

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

possibly damaging
Transcript: ENSMUST00000113077
AA Change: T194I

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: T194I

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
AA Change: T259I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: T259I

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
AA Change: T259I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: T259I

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: ENSMUST00000156130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145180

Coding Region Coverage

Validation Efficiency

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,604,075 (GRCm39)	S177G	possibly damaging	Het
Il16	A	T	7: 83,322,234 (GRCm39)		probably benign	Het
Klra5	A	T	6: 129,883,627 (GRCm39)	C77S	probably damaging	Het
Mterf4	G	A	1: 93,232,716 (GRCm39)	T45I	probably damaging	Het
Or1j17	G	A	2: 36,578,117 (GRCm39)	M34I	probably benign	Het
Pcdhb2	T	G	18: 37,429,356 (GRCm39)	V86G	probably damaging	Het
Pkd1l3	A	G	8: 110,375,134 (GRCm39)		probably null	Het
Prrc2c	A	T	1: 162,532,068 (GRCm39)	S1516T	probably benign	Het
Shisa3	G	A	5: 67,768,408 (GRCm39)	G103S	probably damaging	Het
St3gal4	A	C	9: 34,963,601 (GRCm39)	F236V	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,702 (GRCm39)	Y400C	probably damaging	Het

Other mutations in Fbxw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Fbxw2	APN	2	34,702,961 (GRCm39)	missense	probably benign	0.38
IGL00498:Fbxw2	APN	2	34,695,953 (GRCm39)	missense	probably damaging	1.00
IGL01359:Fbxw2	APN	2	34,712,762 (GRCm39)	missense	probably benign	0.07
IGL01794:Fbxw2	APN	2	34,701,131 (GRCm39)	splice site	probably benign
IGL01934:Fbxw2	APN	2	34,712,618 (GRCm39)	missense	probably damaging	0.99
IGL02444:Fbxw2	APN	2	34,695,793 (GRCm39)	missense	probably benign	0.09
IGL02948:Fbxw2	APN	2	34,695,723 (GRCm39)	makesense	probably null
IGL03209:Fbxw2	APN	2	34,712,675 (GRCm39)	missense	probably damaging	1.00
silkpurse	UTSW	2	34,702,825 (GRCm39)	critical splice donor site	probably null
R0597:Fbxw2	UTSW	2	34,701,032 (GRCm39)	missense	probably damaging	0.99
R0636:Fbxw2	UTSW	2	34,712,859 (GRCm39)	nonsense	probably null
R1489:Fbxw2	UTSW	2	34,702,829 (GRCm39)	small insertion	probably benign
R1920:Fbxw2	UTSW	2	34,712,776 (GRCm39)	missense	probably damaging	1.00
R3177:Fbxw2	UTSW	2	34,712,762 (GRCm39)	missense	probably benign	0.07
R3277:Fbxw2	UTSW	2	34,712,762 (GRCm39)	missense	probably benign	0.07
R6194:Fbxw2	UTSW	2	34,697,416 (GRCm39)	missense	probably damaging	1.00
R6236:Fbxw2	UTSW	2	34,712,845 (GRCm39)	missense	probably damaging	1.00
R6258:Fbxw2	UTSW	2	34,702,825 (GRCm39)	critical splice donor site	probably null
R7382:Fbxw2	UTSW	2	34,697,314 (GRCm39)	missense	probably benign	0.01
R7636:Fbxw2	UTSW	2	34,702,956 (GRCm39)	missense	probably benign	0.00
R8361:Fbxw2	UTSW	2	34,697,426 (GRCm39)	missense	possibly damaging	0.90
R8841:Fbxw2	UTSW	2	34,712,844 (GRCm39)	start gained	probably benign

Posted On

2014-02-04