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

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

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

84722575-84886505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84833014 bp (GRCm39)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Afg3l1	G	A	8: 124,227,972 (GRCm39)	G547D	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Chrna3	T	C	9: 54,923,178 (GRCm39)	K210R	probably benign	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,503,379 (GRCm39)	R424Q	probably null	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Ddx4	T	A	13: 112,748,516 (GRCm39)	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam111a	T	C	19: 12,564,914 (GRCm39)	L221P	possibly damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	probably damaging	Het

Other mutations in Fbxw7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Fbxw7	APN	3	84,876,616 (GRCm39)	intron	probably benign
IGL01468:Fbxw7	APN	3	84,879,806 (GRCm39)	missense	probably benign	0.21
IGL01946:Fbxw7	APN	3	84,811,369 (GRCm39)	missense	possibly damaging	0.60
IGL02248:Fbxw7	APN	3	84,810,940 (GRCm39)	missense	possibly damaging	0.94
IGL02630:Fbxw7	APN	3	84,872,586 (GRCm39)	missense	probably damaging	1.00
IGL02957:Fbxw7	APN	3	84,883,544 (GRCm39)	missense	probably benign	0.00
PIT4453001:Fbxw7	UTSW	3	84,872,621 (GRCm39)	missense
R0043:Fbxw7	UTSW	3	84,879,874 (GRCm39)	intron	probably benign
R0312:Fbxw7	UTSW	3	84,874,876 (GRCm39)	intron	probably benign
R0595:Fbxw7	UTSW	3	84,884,674 (GRCm39)	splice site	probably null
R1664:Fbxw7	UTSW	3	84,876,478 (GRCm39)	missense	possibly damaging	0.45
R1709:Fbxw7	UTSW	3	84,883,659 (GRCm39)	missense	probably damaging	1.00
R1782:Fbxw7	UTSW	3	84,811,126 (GRCm39)	missense	probably benign
R1974:Fbxw7	UTSW	3	84,862,242 (GRCm39)	missense	possibly damaging	0.53
R2081:Fbxw7	UTSW	3	84,881,820 (GRCm39)	missense	probably damaging	1.00
R2843:Fbxw7	UTSW	3	84,883,527 (GRCm39)	missense	probably damaging	1.00
R3732:Fbxw7	UTSW	3	84,833,014 (GRCm39)	missense	possibly damaging	0.72
R3733:Fbxw7	UTSW	3	84,833,014 (GRCm39)	missense	possibly damaging	0.72
R4333:Fbxw7	UTSW	3	84,879,802 (GRCm39)	missense	probably damaging	1.00
R4335:Fbxw7	UTSW	3	84,879,802 (GRCm39)	missense	probably damaging	1.00
R4581:Fbxw7	UTSW	3	84,874,852 (GRCm39)	missense	probably benign	0.41
R4776:Fbxw7	UTSW	3	84,832,996 (GRCm39)	missense	possibly damaging	0.53
R4799:Fbxw7	UTSW	3	84,811,168 (GRCm39)	nonsense	probably null
R4822:Fbxw7	UTSW	3	84,874,814 (GRCm39)	missense	possibly damaging	0.94
R5512:Fbxw7	UTSW	3	84,862,216 (GRCm39)	missense	probably damaging	0.99
R5601:Fbxw7	UTSW	3	84,883,515 (GRCm39)	missense	probably damaging	1.00
R5679:Fbxw7	UTSW	3	84,884,794 (GRCm39)	missense	probably damaging	1.00
R6026:Fbxw7	UTSW	3	84,859,948 (GRCm39)	critical splice donor site	probably null
R6182:Fbxw7	UTSW	3	84,723,078 (GRCm39)	critical splice donor site	probably null
R6219:Fbxw7	UTSW	3	84,876,520 (GRCm39)	missense	probably damaging	0.99
R6305:Fbxw7	UTSW	3	84,883,630 (GRCm39)	missense	probably damaging	1.00
R6473:Fbxw7	UTSW	3	84,859,687 (GRCm39)	intron	probably benign
R6823:Fbxw7	UTSW	3	84,865,934 (GRCm39)	missense	probably benign	0.33
R6922:Fbxw7	UTSW	3	84,879,723 (GRCm39)	splice site	probably null
R7163:Fbxw7	UTSW	3	84,832,892 (GRCm39)	intron	probably benign
R7229:Fbxw7	UTSW	3	84,884,676 (GRCm39)	missense	unknown
R7554:Fbxw7	UTSW	3	84,883,620 (GRCm39)	missense
R7677:Fbxw7	UTSW	3	84,811,373 (GRCm39)	missense
R7711:Fbxw7	UTSW	3	84,832,988 (GRCm39)	missense	probably benign
R7713:Fbxw7	UTSW	3	84,874,872 (GRCm39)	critical splice donor site	probably null
R7873:Fbxw7	UTSW	3	84,833,071 (GRCm39)	missense	possibly damaging	0.53
R8319:Fbxw7	UTSW	3	84,881,859 (GRCm39)	missense
R8712:Fbxw7	UTSW	3	84,859,684 (GRCm39)	missense	unknown
R8802:Fbxw7	UTSW	3	84,859,693 (GRCm39)	missense	unknown
R8805:Fbxw7	UTSW	3	84,862,227 (GRCm39)	missense
R8887:Fbxw7	UTSW	3	84,876,549 (GRCm39)	missense
R8905:Fbxw7	UTSW	3	84,872,634 (GRCm39)	missense	possibly damaging	0.89
R9358:Fbxw7	UTSW	3	84,883,561 (GRCm39)	missense

Predicted Primers

Posted On

2017-12-01