Mutagenetix > Incidental Mutations

Incidental Mutation 'R6194:Fbxw2'

502766

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

044334-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34804514-34826311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34807404 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 317 (T317I)

Ref Sequence

ENSEMBL: ENSMUSP00000108703 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028220
AA Change: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: T317I

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: T188I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: T188I

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: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: T317I

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: T252I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: T252I

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: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: T317I

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: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: T317I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,104,035	I90V	probably benign	Het
5330417C22Rik	T	C	3: 108,465,779	I600V	probably benign	Het
Afap1l2	T	A	19: 56,922,951	R370S	probably damaging	Het
Alcam	A	G	16: 52,268,398	Y537H	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Asap1	A	G	15: 64,129,209	S508P	probably damaging	Het
Atg5	T	C	10: 44,294,616	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,308,239	P502S	probably damaging	Het
AW209491	T	A	13: 14,637,120	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,243,890	Y1354H	probably damaging	Het
Card6	A	T	15: 5,098,444	S1157T	unknown	Het
Chil6	A	G	3: 106,404,876		probably null	Het
Chrna1	A	G	2: 73,570,472	V238A	probably benign	Het
Cluap1	A	G	16: 3,929,906	S308G	probably benign	Het
Cntnap4	A	G	8: 112,875,429	D1155G	probably damaging	Het
Cptp	A	G	4: 155,866,641	F123L	probably damaging	Het
Gc	A	T	5: 89,441,579	V197E	probably benign	Het
Gusb	C	T	5: 129,990,065	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,748,445	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,383,277	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,614,405	K298N	probably damaging	Het
Hunk	A	T	16: 90,496,395	T522S	probably damaging	Het
Ifit3	T	C	19: 34,587,627	F191S	probably benign	Het
Ifnab	T	A	4: 88,691,125	K35*	probably null	Het
Ifnab	G	T	4: 88,691,126	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,262,003	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,939,932	A71V	possibly damaging	Het
Lim2	T	A	7: 43,435,662	C159S	probably damaging	Het
Lrrc56	T	C	7: 141,205,651	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,415,810	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Mboat2	T	A	12: 24,946,638	S213R	probably benign	Het
Mmel1	T	A	4: 154,883,216	C99*	probably null	Het
Mrvi1	T	C	7: 110,899,694	N377D	probably damaging	Het
Myo9a	A	G	9: 59,869,750	I1144V	probably benign	Het
Naa15	A	G	3: 51,463,300	T612A	probably benign	Het
Naalad2	C	T	9: 18,351,147	V362I	probably benign	Het
Nbeal1	A	T	1: 60,257,484	I1178F	possibly damaging	Het
Nras	C	A	3: 103,058,953	A11E	probably damaging	Het
Olfr275	T	A	4: 52,825,779	C127*	probably null	Het
Olfr681	G	T	7: 105,122,170	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,342,146	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Pfkfb2	A	G	1: 130,697,887	*519Q	probably null	Het
Prodh	A	T	16: 18,072,517	H515Q	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Rbks	T	C	5: 31,666,890	E87G	probably benign	Het
Scyl1	G	T	19: 5,770,306	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,266,503	D222E	probably benign	Het
Slc36a4	T	A	9: 15,726,876	C199*	probably null	Het
Slx1b	C	T	7: 126,692,331	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,817,339	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tfpt	A	T	7: 3,629,027	L28Q	probably damaging	Het
Trap1	G	A	16: 4,054,800	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,991,117	F110I	probably damaging	Het
Zfp345	A	T	2: 150,472,631	C329S	probably damaging	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
R1489:Fbxw2	UTSW	2	34812817	small insertion	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCCTCCCATTACAACTTC -3'
(R):5'- AGGACTTAAGCCTGTGACTCTTG -3'

Sequencing Primer
(F):5'- CCATGTGTTGGGCATAAAACTTC -3'
(R):5'- GCCTGTGACTCTTGACTAAAACAG -3'

Posted On

2018-02-27