Mutagenetix > Incidental Mutation

Incidental Mutation 'R8182:Fbxo4'

634698

Institutional Source

Beutler Lab

Gene Symbol

Fbxo4

Ensembl Gene

ENSMUSG00000022184

Gene Name

F-box protein 4

Synonyms

1700096C12Rik

MMRRC Submission

067606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3994927-4009055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3998451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 336 (R336G)

Ref Sequence

ENSEMBL: ENSMUSP00000022791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022791]

AlphaFold

Q8CHQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022791
AA Change: R336G

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

SMART Domains

Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: R336G

Domain	Start	End	E-Value	Type
FBOX	60	100	5.57e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (48/49)

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 the 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 belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	A	G	8: 13,272,774 (GRCm39)	V1328A	probably benign	Het
Akna	T	C	4: 63,313,034 (GRCm39)	Y363C	probably damaging	Het
Aph1c	A	G	9: 66,740,549 (GRCm39)	I59T	possibly damaging	Het
Bbs7	A	T	3: 36,664,372 (GRCm39)	F100I	probably damaging	Het
Cibar1	T	C	4: 12,171,842 (GRCm39)	H30R	probably benign	Het
Eef2k	G	A	7: 120,472,626 (GRCm39)	R113Q	probably damaging	Het
Fam221b	G	A	4: 43,660,342 (GRCm39)	R416C	probably damaging	Het
Fam98b	C	A	2: 117,080,302 (GRCm39)	D18E	probably damaging	Het
Fat2	T	A	11: 55,175,223 (GRCm39)	Y1830F	possibly damaging	Het
Fbrsl1	T	A	5: 110,526,861 (GRCm39)	Q221L	possibly damaging	Het
Fbxw15	A	T	9: 109,384,778 (GRCm39)	C341S	probably benign	Het
Fip1l1	T	C	5: 74,748,813 (GRCm39)	S398P	probably damaging	Het
Fsip2	A	G	2: 82,806,951 (GRCm39)	D1090G	probably damaging	Het
Fyb1	T	A	15: 6,681,293 (GRCm39)	M706K	probably benign	Het
Glg1	A	T	8: 111,897,929 (GRCm39)	F747I	possibly damaging	Het
Gm8257	A	G	14: 44,887,623 (GRCm39)	L254P	probably benign	Het
Hnf4g	T	C	3: 3,716,679 (GRCm39)	Y283H	possibly damaging	Het
Irx6	C	A	8: 93,403,642 (GRCm39)	Y122*	probably null	Het
Jph4	C	T	14: 55,347,213 (GRCm39)	G445R	possibly damaging	Het
Kif16b	G	T	2: 142,554,819 (GRCm39)	R660S	possibly damaging	Het
Kif21a	C	T	15: 90,819,964 (GRCm39)	G1556D	possibly damaging	Het
Kif3a	T	A	11: 53,485,133 (GRCm39)	Y531*	probably null	Het
Lrp2	T	C	2: 69,319,673 (GRCm39)	D1950G	probably damaging	Het
Med23	T	G	10: 24,788,705 (GRCm39)	S1371A	probably benign	Het
Mef2a	T	A	7: 66,917,875 (GRCm39)	E112D	probably benign	Het
Mxra8	C	G	4: 155,925,589 (GRCm39)	Y99*	probably null	Het
Nbeal1	A	G	1: 60,239,292 (GRCm39)	T112A	probably benign	Het
Or8b49	G	A	9: 38,505,840 (GRCm39)	V108I	probably benign	Het
Pclo	G	A	5: 14,905,634 (GRCm39)	E4955K	unknown	Het
Poc1b	T	C	10: 98,991,005 (GRCm39)		probably null	Het
Ptbp2	A	G	3: 119,534,078 (GRCm39)	Y264H	probably damaging	Het
Rhobtb2	A	G	14: 70,034,070 (GRCm39)	V385A	probably benign	Het
Rlf	G	A	4: 121,008,102 (GRCm39)	P403S	possibly damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Serpinb9f	A	G	13: 33,518,603 (GRCm39)	I368V	probably benign	Het
Slc1a1	A	T	19: 28,878,848 (GRCm39)	T196S	probably benign	Het
Smarca2	A	G	19: 26,608,120 (GRCm39)	S60G	probably benign	Het
Tbc1d4	A	T	14: 101,744,990 (GRCm39)	V212E	probably damaging	Het
Thap12	T	A	7: 98,365,584 (GRCm39)	I584N	probably damaging	Het
Ube3b	T	A	5: 114,530,199 (GRCm39)	N195K	possibly damaging	Het
Upk3b	T	C	5: 136,067,982 (GRCm39)	C58R	probably damaging	Het
Ush1c	A	G	7: 45,847,775 (GRCm39)		probably null	Het
Vmn1r60	T	C	7: 5,547,876 (GRCm39)	T75A		Het
Vmn2r77	T	A	7: 86,460,801 (GRCm39)	L709H	probably damaging	Het
Wdcp	T	C	12: 4,901,850 (GRCm39)	S569P	probably damaging	Het
Zfp418	A	T	7: 7,184,658 (GRCm39)	N207I	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp808	G	A	13: 62,319,521 (GRCm39)	C250Y	probably damaging	Het

Other mutations in Fbxo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Fbxo4	APN	15	3,995,237 (GRCm39)	nonsense	probably null
IGL01879:Fbxo4	APN	15	4,005,436 (GRCm39)	missense	probably damaging	0.99
IGL03070:Fbxo4	APN	15	4,007,344 (GRCm39)	missense	possibly damaging	0.63
PIT1430001:Fbxo4	UTSW	15	4,008,782 (GRCm39)	missense	probably benign	0.07
R1601:Fbxo4	UTSW	15	3,998,447 (GRCm39)	missense	possibly damaging	0.77
R4556:Fbxo4	UTSW	15	3,995,187 (GRCm39)	makesense	probably null
R4557:Fbxo4	UTSW	15	3,995,187 (GRCm39)	makesense	probably null
R4783:Fbxo4	UTSW	15	3,998,523 (GRCm39)	missense	probably benign	0.11
R4784:Fbxo4	UTSW	15	3,998,523 (GRCm39)	missense	probably benign	0.11
R4785:Fbxo4	UTSW	15	3,998,523 (GRCm39)	missense	probably benign	0.11
R4871:Fbxo4	UTSW	15	4,005,394 (GRCm39)	missense	probably damaging	1.00
R5023:Fbxo4	UTSW	15	4,007,238 (GRCm39)	splice site	probably null
R5435:Fbxo4	UTSW	15	3,995,274 (GRCm39)	missense	possibly damaging	0.73
R5876:Fbxo4	UTSW	15	4,007,301 (GRCm39)	missense	probably damaging	1.00
R6423:Fbxo4	UTSW	15	3,995,274 (GRCm39)	missense	possibly damaging	0.73
R6481:Fbxo4	UTSW	15	3,995,216 (GRCm39)	missense	probably damaging	1.00
R6656:Fbxo4	UTSW	15	4,005,305 (GRCm39)	missense	probably damaging	0.99
R6999:Fbxo4	UTSW	15	4,007,437 (GRCm39)	missense	probably damaging	1.00
R7505:Fbxo4	UTSW	15	4,000,903 (GRCm39)	missense	probably benign	0.09
R7543:Fbxo4	UTSW	15	4,007,385 (GRCm39)	missense	probably damaging	1.00
R8555:Fbxo4	UTSW	15	3,995,273 (GRCm39)	missense	probably damaging	1.00
R9079:Fbxo4	UTSW	15	3,998,388 (GRCm39)	critical splice donor site	probably null
R9333:Fbxo4	UTSW	15	3,998,502 (GRCm39)	missense	probably benign	0.00
R9546:Fbxo4	UTSW	15	3,998,493 (GRCm39)	missense	probably damaging	1.00
R9547:Fbxo4	UTSW	15	3,998,493 (GRCm39)	missense	probably damaging	1.00
X0028:Fbxo4	UTSW	15	4,000,933 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTCAAAGATGAATGTTATCCTCCC -3'
(R):5'- GTTGTCATGCTTAAATCCTACCAAC -3'

Sequencing Primer
(F):5'- AGGCCATGTTGGGATCTCAAC -3'
(R):5'- ACACTTTAAATTCCTTTGTGTGCTG -3'

Posted On

2020-07-13