Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Fbxw8'

531613

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

044899-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118203046-118293523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118230754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 349 (E349G)

Ref Sequence

ENSEMBL: ENSMUSP00000047012 (fasta)

Gene Model

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

AlphaFold

Q8BIA4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049474
AA Change: E349G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: E349G

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

0.1173

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

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, 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	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
R0135:Fbxw8	UTSW	5	118,208,552 (GRCm39)	missense	probably damaging	1.00
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
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'- CTAGACTCTTCACTCCAAAGGC -3'
(R):5'- GGATTAGATCTCCTGGTCCCTC -3'

Sequencing Primer
(F):5'- TCTTCACTCCAAAGGCAACCTGG -3'
(R):5'- GACGTGGCTTCCCTTCTCAGAG -3'

Posted On

2018-08-29