Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Fbxw8'

212039

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

039917-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R1897 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

118203046-118293523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118266941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 174 (Y174C)

Ref Sequence

ENSEMBL: ENSMUSP00000047012 (fasta)

Gene Model

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

AlphaFold

Q8BIA4

Predicted Effect

probably benign
Transcript: ENSMUST00000049474
AA Change: Y174C

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: Y174C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201545

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,564 (GRCm39)	S61G	probably damaging	Het
Acot12	A	G	13: 91,932,516 (GRCm39)	N504S	probably benign	Het
Adcy3	C	T	12: 4,223,450 (GRCm39)		probably benign	Het
Adcyap1r1	A	T	6: 55,456,179 (GRCm39)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,206,065 (GRCm39)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,338,389 (GRCm39)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,602,094 (GRCm39)	M231L	probably benign	Het
Asb1	C	A	1: 91,474,647 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,028,948 (GRCm39)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,895,772 (GRCm39)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,343,908 (GRCm39)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,418,941 (GRCm39)	I499V	probably benign	Het
Ccl20	A	G	1: 83,095,616 (GRCm39)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,095,192 (GRCm39)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,818,015 (GRCm39)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,524,046 (GRCm39)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Crocc	G	A	4: 140,746,047 (GRCm39)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,655,595 (GRCm39)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm39)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,330,584 (GRCm39)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,526,678 (GRCm39)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,158,745 (GRCm39)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,325,787 (GRCm39)	V588A	probably damaging	Het
Elf3	A	T	1: 135,184,875 (GRCm39)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,278,530 (GRCm39)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,387,271 (GRCm39)	C188*	probably null	Het
Gnl1	C	A	17: 36,299,584 (GRCm39)	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992 (GRCm39)	S292P	probably benign	Het
Gsk3b	G	A	16: 38,037,446 (GRCm39)		probably null	Het
Hcls1	C	T	16: 36,783,005 (GRCm39)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,350,007 (GRCm39)		probably benign	Het
Hecw1	A	G	13: 14,552,525 (GRCm39)	S25P	probably damaging	Het
Hells	T	C	19: 38,928,928 (GRCm39)	V100A	probably benign	Het
Isl1	C	T	13: 116,439,866 (GRCm39)	E161K	probably benign	Het
Klra9	G	T	6: 130,162,555 (GRCm39)	N160K	possibly damaging	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,515,710 (GRCm39)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,199,523 (GRCm39)	N1377I	probably benign	Het
Myrf	T	C	19: 10,195,596 (GRCm39)	I607V	probably benign	Het
Or2g1	T	G	17: 38,107,075 (GRCm39)	S247A	probably benign	Het
Or8g53	A	T	9: 39,683,361 (GRCm39)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 132,994,654 (GRCm39)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,773,568 (GRCm39)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,610,131 (GRCm39)	V401D	possibly damaging	Het
Plod1	C	T	4: 148,010,657 (GRCm39)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,646,664 (GRCm39)		probably null	Het
Qars1	C	T	9: 108,391,282 (GRCm39)	Q7*	probably null	Het
Rpap2	T	A	5: 107,780,961 (GRCm39)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm39)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,765,818 (GRCm39)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,219,941 (GRCm39)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm39)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,056,762 (GRCm39)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,395,765 (GRCm39)	C723S	probably damaging	Het
Sncaip	A	G	18: 53,027,862 (GRCm39)		probably null	Het
Snx2	T	A	18: 53,330,950 (GRCm39)	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,740 (GRCm39)	L126*	probably null	Het
Stam	T	C	2: 14,133,837 (GRCm39)	S195P	probably damaging	Het
Strn	T	C	17: 78,990,271 (GRCm39)	I82V	probably benign	Het
Synj2	T	A	17: 6,072,412 (GRCm39)	C202*	probably null	Het
Tecpr2	A	G	12: 110,899,681 (GRCm39)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,307 (GRCm39)	V157A	probably damaging	Het
Tff1	T	G	17: 31,383,912 (GRCm39)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,288,314 (GRCm39)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,307,829 (GRCm39)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,953,566 (GRCm39)	K577E	probably damaging	Het
Vrk1	T	C	12: 106,002,799 (GRCm39)		probably benign	Het
Wdr20	A	G	12: 110,760,157 (GRCm39)	T348A	probably benign	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
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'- TGATATCAGCAGAGTCCACAGG -3'
(R):5'- AATGAGCCGTTGTCTGCTGC -3'

Sequencing Primer
(F):5'- GACCTGGGGCTGCTCAG -3'
(R):5'- TGTCTGCTGCCATGAGC -3'

Posted On

2014-06-30