Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Fbxw8'

21873

Institutional Source

Beutler Lab

Gene Symbol

Fbxw8

Ensembl Gene

ENSMUSG00000032867

Gene Name

F-box and WD-40 domain protein 8

Synonyms

4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R0135 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

118203046-118293523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118208552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 467 (I467N)

Ref Sequence

ENSEMBL: ENSMUSP00000047012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049474]

AlphaFold

Q8BIA4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000031305

Predicted Effect

probably damaging
Transcript: ENSMUST00000049474
AA Change: I467N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: I467N

Domain	Start	End	E-Value	Type
low complexity region	16	39	N/A	INTRINSIC
low complexity region	51	75	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC
FBOX	119	159	5e-5	SMART
WD40	198	236	6.16e0	SMART
WD40	248	285	7.1e1	SMART
WD40	289	327	7.36e1	SMART
Blast:WD40	373	418	2e-8	BLAST
WD40	421	461	1.6e0	SMART
WD40	464	501	2.15e-1	SMART

Meta Mutation Damage Score

0.4067

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

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, members of which are 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 three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,456,932 (GRCm39)	R615Q	possibly damaging	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pigk	G	T	3: 152,450,343 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tcaf3	C	T	6: 42,566,692 (GRCm39)	R799K	probably benign	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tmem210	C	T	2: 25,178,480 (GRCm39)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,106,447 (GRCm39)	I348V	probably benign	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	Het

Other mutations in Fbxw8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Fbxw8	APN	5	118,206,162 (GRCm39)	missense	probably benign	0.00
IGL00435:Fbxw8	APN	5	118,206,202 (GRCm39)	missense	probably benign	0.01
IGL00674:Fbxw8	APN	5	118,233,658 (GRCm39)	missense	possibly damaging	0.94
IGL01306:Fbxw8	APN	5	118,251,785 (GRCm39)	missense	possibly damaging	0.88
IGL02389:Fbxw8	APN	5	118,267,020 (GRCm39)	missense	possibly damaging	0.57
IGL02438:Fbxw8	APN	5	118,233,758 (GRCm39)	missense	probably benign	0.09
IGL02553:Fbxw8	APN	5	118,204,125 (GRCm39)	unclassified	probably benign
IGL02752:Fbxw8	APN	5	118,280,815 (GRCm39)	missense	probably damaging	1.00
IGL02975:Fbxw8	APN	5	118,215,760 (GRCm39)	missense	probably benign	0.02
IGL03177:Fbxw8	APN	5	118,267,045 (GRCm39)	splice site	probably benign
IGL03333:Fbxw8	APN	5	118,233,660 (GRCm39)	missense	possibly damaging	0.94
IGL03407:Fbxw8	APN	5	118,280,741 (GRCm39)	missense	probably damaging	1.00
ANU23:Fbxw8	UTSW	5	118,251,785 (GRCm39)	missense	possibly damaging	0.88
R0760:Fbxw8	UTSW	5	118,203,966 (GRCm39)	splice site	probably null
R1115:Fbxw8	UTSW	5	118,215,636 (GRCm39)	splice site	probably benign
R1498:Fbxw8	UTSW	5	118,203,850 (GRCm39)	unclassified	probably benign
R1689:Fbxw8	UTSW	5	118,215,682 (GRCm39)	missense	probably damaging	0.97
R1897:Fbxw8	UTSW	5	118,266,941 (GRCm39)	missense	probably benign	0.16
R2160:Fbxw8	UTSW	5	118,263,053 (GRCm39)	missense	probably damaging	1.00
R2345:Fbxw8	UTSW	5	118,203,872 (GRCm39)	unclassified	probably benign
R3743:Fbxw8	UTSW	5	118,251,704 (GRCm39)	missense	probably damaging	1.00
R3935:Fbxw8	UTSW	5	118,233,783 (GRCm39)	missense	probably benign	0.38
R4910:Fbxw8	UTSW	5	118,263,092 (GRCm39)	splice site	probably null
R5220:Fbxw8	UTSW	5	118,233,776 (GRCm39)	missense	possibly damaging	0.69
R5628:Fbxw8	UTSW	5	118,230,622 (GRCm39)	missense	probably damaging	1.00
R6161:Fbxw8	UTSW	5	118,230,740 (GRCm39)	missense	possibly damaging	0.94
R6184:Fbxw8	UTSW	5	118,251,814 (GRCm39)	missense	probably damaging	1.00
R6582:Fbxw8	UTSW	5	118,263,028 (GRCm39)	missense	probably benign	0.28
R6617:Fbxw8	UTSW	5	118,280,731 (GRCm39)	critical splice donor site	probably null
R6785:Fbxw8	UTSW	5	118,230,754 (GRCm39)	missense	probably damaging	1.00
R7363:Fbxw8	UTSW	5	118,263,057 (GRCm39)	missense	probably damaging	0.97
R7395:Fbxw8	UTSW	5	118,206,280 (GRCm39)	missense	probably damaging	1.00
R7674:Fbxw8	UTSW	5	118,263,036 (GRCm39)	nonsense	probably null
R8428:Fbxw8	UTSW	5	118,215,763 (GRCm39)	missense	probably benign	0.02
R9161:Fbxw8	UTSW	5	118,251,727 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTAGGTCACCTCTCCAGCAAAAGTG -3'
(R):5'- GGCAAGTTTCCGTGATGCCTTCAG -3'

Sequencing Primer
(F):5'- CTTTCAGGAAGGCGCAAC -3'
(R):5'- AGGCCCTGGAGTAGCTTG -3'

Posted On

2013-04-12