Mutagenetix > Incidental Mutation

Incidental Mutation 'R7873:Fbxw7'

608228

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

045925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84722575-84886505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84833071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 38 (I38F)

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: I38F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: I38F

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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
4930562C15Rik	A	T	16: 4,684,091 (GRCm39)	I229F	probably benign	Het
Abca14	T	C	7: 119,888,792 (GRCm39)	L1246S	probably benign	Het
Abtb3	T	C	10: 85,466,989 (GRCm39)	V685A	possibly damaging	Het
Acacb	A	C	5: 114,361,339 (GRCm39)	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499 (GRCm39)	S585T	possibly damaging	Het
Ark2c	T	C	18: 77,554,449 (GRCm39)	D248G	possibly damaging	Het
Ccdc54	A	G	16: 50,410,672 (GRCm39)	V198A	probably benign	Het
Cnga4	A	G	7: 105,056,249 (GRCm39)	I387V	probably damaging	Het
Creg1	G	T	1: 165,597,448 (GRCm39)	D141Y	probably damaging	Het
Cxcr2	T	C	1: 74,198,166 (GRCm39)	L220P	probably benign	Het
Dennd5a	T	A	7: 109,526,141 (GRCm39)	I344F	probably damaging	Het
Dysf	A	G	6: 84,060,747 (GRCm39)	N448S	probably benign	Het
Efcab6	A	G	15: 83,902,826 (GRCm39)		probably null	Het
Elf2	C	A	3: 51,164,099 (GRCm39)	V489F	probably damaging	Het
Elmod2	G	T	8: 84,057,848 (GRCm39)	H12N	probably benign	Het
Eln	C	T	5: 134,740,041 (GRCm39)	G618E	unknown	Het
Fbxo33	G	T	12: 59,265,807 (GRCm39)	S153R	possibly damaging	Het
Flnc	G	A	6: 29,456,990 (GRCm39)	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gpr155	T	C	2: 73,173,934 (GRCm39)	E825G	possibly damaging	Het
Grk3	A	T	5: 113,077,552 (GRCm39)	M405K	probably benign	Het
H2bc7	A	T	13: 23,758,244 (GRCm39)	Y41N	probably damaging	Het
Hace1	T	C	10: 45,548,883 (GRCm39)	V597A	possibly damaging	Het
Ido1	A	G	8: 25,074,758 (GRCm39)	F295S	probably damaging	Het
Ighe	T	A	12: 113,234,942 (GRCm39)	E406V		Het
Ighv1-31	G	T	12: 114,793,274 (GRCm39)	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,797,988 (GRCm39)	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,297,957 (GRCm39)	K215*	probably null	Het
Iqcn	A	G	8: 71,163,989 (GRCm39)	M1061V	probably benign	Het
Krt18	C	T	15: 101,939,391 (GRCm39)	T288I	probably benign	Het
Lrwd1	A	T	5: 136,152,792 (GRCm39)	I490N	probably benign	Het
Macf1	T	A	4: 123,398,344 (GRCm39)		probably null	Het
Mapk8ip3	A	G	17: 25,125,146 (GRCm39)	V482A	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdk	A	G	2: 91,761,773 (GRCm39)	F7S	probably benign	Het
Mycbp2	G	A	14: 103,393,582 (GRCm39)	P2993L	probably damaging	Het
Niban3	A	T	8: 72,054,892 (GRCm39)	I193F	probably damaging	Het
Nme4	A	T	17: 26,312,862 (GRCm39)	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656 (GRCm38)	R171*	probably null	Het
Or10h28	A	G	17: 33,488,348 (GRCm39)	I217V	probably benign	Het
Osgep	G	T	14: 51,153,347 (GRCm39)	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271 (GRCm39)	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086 (GRCm39)	D320G	probably benign	Het
Pelp1	A	T	11: 70,285,552 (GRCm39)	V772D	probably damaging	Het
Pkdrej	T	A	15: 85,700,724 (GRCm39)	R1737S	probably benign	Het
Ppp1r13b	A	T	12: 111,801,320 (GRCm39)	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,851,329 (GRCm39)	K56T	probably benign	Het
Prdm11	G	T	2: 92,819,628 (GRCm39)	H261N	probably benign	Het
Preb	T	A	5: 31,116,109 (GRCm39)	N166I	probably benign	Het
Psd3	T	C	8: 68,335,634 (GRCm39)	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,141,292 (GRCm39)	V580I	probably damaging	Het
Ptpro	T	A	6: 137,407,737 (GRCm39)	S949T	probably benign	Het
Pum2	A	G	12: 8,798,802 (GRCm39)	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,595,892 (GRCm39)	D29G	probably benign	Het
Rel	A	G	11: 23,692,957 (GRCm39)	S359P	probably benign	Het
Ryr3	T	A	2: 112,560,773 (GRCm39)	H2996L	probably benign	Het
Scarb1	C	T	5: 125,371,103 (GRCm39)	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,327,193 (GRCm39)	R1309H	probably damaging	Het
Serpinb12	T	A	1: 106,881,469 (GRCm39)	V202E	probably damaging	Het
Shh	A	G	5: 28,663,298 (GRCm39)	L290P	possibly damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,215,714 (GRCm39)	G42R	probably benign	Het
Slc41a1	A	G	1: 131,758,561 (GRCm39)	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,937,356 (GRCm39)	S64P	probably damaging	Het
Slco1a7	T	A	6: 141,673,448 (GRCm39)	L363F	probably benign	Het
Smc1b	A	G	15: 84,994,851 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,968,751 (GRCm39)	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,260,313 (GRCm39)	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,389,808 (GRCm39)	I290V	probably benign	Het
Trio	A	G	15: 27,805,770 (GRCm39)	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,757,494 (GRCm39)	S1047R	probably damaging	Het
Ttn	T	C	2: 76,746,877 (GRCm39)	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542 (GRCm39)	N301K	probably benign	Het
Unc5c	A	G	3: 141,533,310 (GRCm39)	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Wdr37	A	T	13: 8,855,969 (GRCm39)	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,762,729 (GRCm39)	Y211F	probably benign	Het
Zfp108	G	A	7: 23,960,758 (GRCm39)	V450I	probably benign	Het
Zfp212	A	T	6: 47,907,860 (GRCm39)	R280*	probably null	Het
Zfp940	A	T	7: 29,535,042 (GRCm39)	V108E	unknown	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
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
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

PCR Primer
(F):5'- ACAGGCCTTGGATTCTCAGC -3'
(R):5'- TGTAAGTTTTCCCTAGCCACAC -3'

Sequencing Primer
(F):5'- GCCTTGGATTCTCAGCCTTTTAAAAC -3'
(R):5'- ACAAAGCATCGTTAGCTCTCCTC -3'

Posted On

2019-12-20