Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Fbxw7'

500777

Institutional Source

Beutler Lab

Gene Symbol

Fbxw7

Ensembl Gene

ENSMUSG00000028086

Gene Name

F-box and WD-40 domain protein 7

Synonyms

Fbw7, 1110001A17Rik, AGO, Cdc4, Fbxw6, SEL-10, Fbxo30

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84815268-84979198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84925707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 19 (K19Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107675] [ENSMUST00000107678] [ENSMUST00000107679] [ENSMUST00000154148]

AlphaFold

Q8VBV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107675
AA Change: K19Q

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: K19Q

Domain	Start	End	E-Value	Type
low complexity region	99	106	N/A	INTRINSIC
FBOX	166	206	3.7e-8	SMART
WD40	251	289	3.14e-6	SMART
WD40	292	329	2.1e-7	SMART
WD40	332	369	7.55e-9	SMART
WD40	372	409	2.22e-6	SMART
WD40	412	449	1.07e-8	SMART
WD40	452	489	1.75e-4	SMART
WD40	492	532	2.32e-9	SMART
WD40	535	583	2.37e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107678

SMART Domains

Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086

Domain	Start	End	E-Value	Type
coiled coil region	94	129	N/A	INTRINSIC
low complexity region	220	227	N/A	INTRINSIC
FBOX	287	327	3.7e-8	SMART
WD40	372	410	3.14e-6	SMART
WD40	413	450	2.1e-7	SMART
WD40	453	490	7.55e-9	SMART
WD40	493	530	2.22e-6	SMART
WD40	533	570	1.07e-8	SMART
WD40	573	610	1.75e-4	SMART
WD40	613	653	2.32e-9	SMART
WD40	656	704	2.37e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107679

SMART Domains

Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086

Domain	Start	End	E-Value	Type
coiled coil region	94	129	N/A	INTRINSIC
low complexity region	220	227	N/A	INTRINSIC
FBOX	287	327	3.7e-8	SMART
WD40	372	410	3.14e-6	SMART
WD40	413	450	2.1e-7	SMART
WD40	453	490	7.55e-9	SMART
WD40	493	530	2.22e-6	SMART
WD40	533	570	1.07e-8	SMART
WD40	573	610	1.75e-4	SMART
WD40	613	653	2.32e-9	SMART
WD40	656	704	2.37e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151410

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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 which is 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 3 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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this locus disrupts embryonic and extraembryonic vasculature, resulting in death by midgestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Fbxw7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Fbxw7	APN	3	84969309	intron	probably benign
IGL01468:Fbxw7	APN	3	84972499	missense	probably benign	0.21
IGL01946:Fbxw7	APN	3	84904062	missense	possibly damaging	0.60
IGL02248:Fbxw7	APN	3	84903633	missense	possibly damaging	0.94
IGL02630:Fbxw7	APN	3	84965279	missense	probably damaging	1.00
IGL02957:Fbxw7	APN	3	84976237	missense	probably benign	0.00
PIT4453001:Fbxw7	UTSW	3	84965314	missense
R0043:Fbxw7	UTSW	3	84972567	intron	probably benign
R0312:Fbxw7	UTSW	3	84967569	intron	probably benign
R0595:Fbxw7	UTSW	3	84977367	splice site	probably null
R1664:Fbxw7	UTSW	3	84969171	missense	possibly damaging	0.45
R1709:Fbxw7	UTSW	3	84976352	missense	probably damaging	1.00
R1782:Fbxw7	UTSW	3	84903819	missense	probably benign
R1974:Fbxw7	UTSW	3	84954935	missense	possibly damaging	0.53
R2081:Fbxw7	UTSW	3	84974513	missense	probably damaging	1.00
R2843:Fbxw7	UTSW	3	84976220	missense	probably damaging	1.00
R3732:Fbxw7	UTSW	3	84925707	missense	possibly damaging	0.72
R3733:Fbxw7	UTSW	3	84925707	missense	possibly damaging	0.72
R4333:Fbxw7	UTSW	3	84972495	missense	probably damaging	1.00
R4335:Fbxw7	UTSW	3	84972495	missense	probably damaging	1.00
R4581:Fbxw7	UTSW	3	84967545	missense	probably benign	0.41
R4776:Fbxw7	UTSW	3	84925689	missense	possibly damaging	0.53
R4799:Fbxw7	UTSW	3	84903861	nonsense	probably null
R4822:Fbxw7	UTSW	3	84967507	missense	possibly damaging	0.94
R5512:Fbxw7	UTSW	3	84954909	missense	probably damaging	0.99
R5601:Fbxw7	UTSW	3	84976208	missense	probably damaging	1.00
R5679:Fbxw7	UTSW	3	84977487	missense	probably damaging	1.00
R6026:Fbxw7	UTSW	3	84952641	critical splice donor site	probably null
R6182:Fbxw7	UTSW	3	84815771	critical splice donor site	probably null
R6219:Fbxw7	UTSW	3	84969213	missense	probably damaging	0.99
R6305:Fbxw7	UTSW	3	84976323	missense	probably damaging	1.00
R6473:Fbxw7	UTSW	3	84952380	intron	probably benign
R6823:Fbxw7	UTSW	3	84958627	missense	probably benign	0.33
R6922:Fbxw7	UTSW	3	84972416	splice site	probably null
R7163:Fbxw7	UTSW	3	84925585	intron	probably benign
R7229:Fbxw7	UTSW	3	84977369	missense	unknown
R7554:Fbxw7	UTSW	3	84976313	missense
R7677:Fbxw7	UTSW	3	84904066	missense
R7711:Fbxw7	UTSW	3	84925681	missense	probably benign
R7713:Fbxw7	UTSW	3	84967565	critical splice donor site	probably null
R7873:Fbxw7	UTSW	3	84925764	missense	possibly damaging	0.53
R8319:Fbxw7	UTSW	3	84974552	missense
R8712:Fbxw7	UTSW	3	84952377	missense	unknown
R8802:Fbxw7	UTSW	3	84952386	missense	unknown
R8805:Fbxw7	UTSW	3	84954920	missense
R8887:Fbxw7	UTSW	3	84969242	missense
R8905:Fbxw7	UTSW	3	84965327	missense	possibly damaging	0.89
R9358:Fbxw7	UTSW	3	84976254	missense

Predicted Primers

Posted On

2017-12-01