Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Fbxw2'

55095

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

038786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0597 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

34694526-34716323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34701032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 261 (L261Q)

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 damaging
Transcript: ENSMUST00000028220
AA Change: L261Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: L261Q

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 damaging
Transcript: ENSMUST00000091020
AA Change: L132Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: L132Q

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 damaging
Transcript: ENSMUST00000113075
AA Change: L261Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: L261Q

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: L196Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: L196Q

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 damaging
Transcript: ENSMUST00000113078
AA Change: L261Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: L261Q

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 damaging
Transcript: ENSMUST00000113080
AA Change: L261Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: L261Q

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: ENSMUST00000145180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145660

Meta Mutation Damage Score

0.6487

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,225,871 (GRCm39)	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,670,496 (GRCm39)	E120G	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il3ra	T	A	14: 14,351,166 (GRCm38)		probably null	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,024,814 (GRCm39)	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly 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
IGL01770:Fbxw2	APN	2	34,701,038 (GRCm39)	missense	possibly damaging	0.56
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
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

Predicted Primers

PCR Primer
(F):5'- ATTACCACCATGCTCAGTGAGTGAATC -3'
(R):5'- TGGGCTGCTGTTTTCCTATAAACTACC -3'

Sequencing Primer
(F):5'- GCTCAGTGAGTGAATCTATTCCAC -3'
(R):5'- AGTAGTTCAGCTCTTAATGTGCC -3'

Posted On

2013-07-11