Mutagenetix > Incidental Mutation

Incidental Mutation 'R9546:Fbxo4'

720147

Institutional Source

Beutler Lab

Gene Symbol

Fbxo4

Ensembl Gene

ENSMUSG00000022184

Gene Name

F-box protein 4

Synonyms

1700096C12Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3994927-4009055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3998493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 322 (P322S)

Ref Sequence

ENSEMBL: ENSMUSP00000022791 (fasta)

Gene Model

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

AlphaFold

Q8CHQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022791
AA Change: P322S

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

SMART Domains

Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: P322S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,135,042 (GRCm39)	Q248*	probably null	Het
Adgrf4	A	T	17: 42,978,283 (GRCm39)	C353*	probably null	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Ccdc122	T	A	14: 77,306,313 (GRCm39)	V28E	probably damaging	Het
Cd5l	T	C	3: 87,268,201 (GRCm39)	V16A	probably benign	Het
Cdk11b	T	C	4: 155,733,589 (GRCm39)	S682P	unknown	Het
Chd8	T	C	14: 52,453,408 (GRCm39)	I1218V	probably damaging	Het
Clec1b	A	C	6: 129,382,167 (GRCm39)	I215L	probably benign	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn2	T	C	11: 61,437,407 (GRCm39)	E55G	probably damaging	Het
Ern1	A	G	11: 106,300,853 (GRCm39)	S514P	probably benign	Het
Gli3	T	A	13: 15,788,443 (GRCm39)	D149E	probably benign	Het
Gm12258	A	G	11: 58,749,922 (GRCm39)	K366E	unknown	Het
Gm9195	G	T	14: 72,718,347 (GRCm39)	H110N	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hexb	T	C	13: 97,322,176 (GRCm39)	D203G	probably damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Iglon5	A	T	7: 43,123,891 (GRCm39)	M336K	probably benign	Het
Iyd	A	T	10: 3,501,884 (GRCm39)	I177F	possibly damaging	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klhl12	T	A	1: 134,413,562 (GRCm39)	L349Q	probably damaging	Het
Lrp2	A	G	2: 69,287,165 (GRCm39)		probably null	Het
Mrm2	T	A	5: 140,314,334 (GRCm39)	H167L	probably damaging	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtcl3	C	A	10: 29,022,805 (GRCm39)	R51S	probably damaging	Het
Nags	A	T	11: 102,039,081 (GRCm39)	T471S	probably damaging	Het
Nod2	A	T	8: 89,379,621 (GRCm39)	R41W	probably benign	Het
Notch1	T	A	2: 26,371,127 (GRCm39)	N320Y	probably damaging	Het
Nr2c1	A	G	10: 94,026,528 (GRCm39)	K468E	possibly damaging	Het
Nsf	G	A	11: 103,801,275 (GRCm39)	Q247*	probably null	Het
Obsl1	T	C	1: 75,482,030 (GRCm39)	H280R	probably damaging	Het
Or4p20	T	C	2: 88,254,049 (GRCm39)	M107V	probably benign	Het
Pcdha3	C	T	18: 37,079,389 (GRCm39)	R44C	probably damaging	Het
Pcsk4	A	G	10: 80,157,741 (GRCm39)	S623P	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Plk2	T	A	13: 110,535,301 (GRCm39)	I445K	possibly damaging	Het
Pramel51	C	A	12: 88,148,651 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Prl3d1	A	T	13: 27,278,982 (GRCm39)	Y59F	probably benign	Het
Ptprj	C	T	2: 90,274,805 (GRCm39)	V1186I	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,994,215 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,602,101 (GRCm39)		probably null	Het
Scn7a	A	T	2: 66,582,603 (GRCm39)	I98N	possibly damaging	Het
Spi1	T	A	2: 90,943,617 (GRCm39)	S54T	probably benign	Het
Ssna1	C	T	2: 25,162,316 (GRCm39)	V16I	probably benign	Het
Sult3a2	G	A	10: 33,655,670 (GRCm39)	P103L	possibly damaging	Het
Syne1	C	T	10: 5,193,123 (GRCm39)	G3975D	probably damaging	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Vmn2r24	A	C	6: 123,764,266 (GRCm39)	E381A	probably damaging	Het
Vmn2r95	G	A	17: 18,661,721 (GRCm39)	G489D	probably benign	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Xpnpep1	A	T	19: 52,990,959 (GRCm39)	L422Q	probably damaging	Het
Zfand3	T	A	17: 30,372,302 (GRCm39)	H107Q	probably benign	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
R8182:Fbxo4	UTSW	15	3,998,451 (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
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'- CACTTCAAAGATGAATGTTATCCTCCC -3'
(R):5'- TGTCATGCTTAAATCCTACCAACAC -3'

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

Posted On

2022-07-18