Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Fbxo4'

376615

Institutional Source

Beutler Lab

Gene Symbol

Fbxo4

Ensembl Gene

ENSMUSG00000022184

Gene Name

F-box protein 4

Synonyms

1700096C12Rik

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

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

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3994927-4009055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4005394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 162 (V162A)

Ref Sequence

ENSEMBL: ENSMUSP00000022791 (fasta)

Gene Model

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

AlphaFold

Q8CHQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022791
AA Change: V162A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: V162A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148817

Meta Mutation Damage Score

0.3967

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,457,078 (GRCm39)	T270A	probably null	Het
Adgrv1	A	T	13: 81,681,241 (GRCm39)		probably benign	Het
Aldh1b1	A	T	4: 45,803,383 (GRCm39)	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,153,065 (GRCm39)	C220*	probably null	Het
Ank2	T	C	3: 126,753,444 (GRCm39)	Y279C	probably damaging	Het
Anks1	T	C	17: 28,210,351 (GRCm39)	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968 (GRCm39)	T383K	probably benign	Het
Asphd1	G	T	7: 126,547,747 (GRCm39)	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,613,748 (GRCm39)	I9F	probably damaging	Het
Bcl2l11	T	C	2: 127,970,961 (GRCm39)		probably benign	Het
C2cd3	T	G	7: 100,062,581 (GRCm39)	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,274,929 (GRCm39)	V156A	probably damaging	Het
Cdh8	G	C	8: 99,757,536 (GRCm39)	N687K	probably damaging	Het
Cdk19	A	G	10: 40,352,232 (GRCm39)	D338G	probably benign	Het
Cenpf	A	G	1: 189,390,728 (GRCm39)	C1035R	probably damaging	Het
Cep290	A	G	10: 100,384,776 (GRCm39)	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,224,650 (GRCm39)	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,262,300 (GRCm39)		probably benign	Het
Clasrp	T	C	7: 19,324,173 (GRCm39)	D234G	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddr2	A	G	1: 169,832,340 (GRCm39)	V150A	probably benign	Het
Dennd10	A	G	19: 60,819,252 (GRCm39)	E120G	probably damaging	Het
Dnah7b	T	C	1: 46,120,604 (GRCm39)	S74P	probably benign	Het
Dnttip2	C	A	3: 122,078,750 (GRCm39)	A743E	probably damaging	Het
Dysf	A	T	6: 84,044,005 (GRCm39)	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,462,905 (GRCm39)	E610G	probably damaging	Het
Edem3	T	G	1: 151,679,982 (GRCm39)		probably null	Het
Ext1	G	T	15: 52,955,773 (GRCm39)	N441K	probably benign	Het
Fam118a	A	G	15: 84,942,969 (GRCm39)	R333G	probably damaging	Het
Fat4	C	T	3: 38,945,754 (GRCm39)	T1549I	probably damaging	Het
Fgd2	A	G	17: 29,592,223 (GRCm39)	H385R	possibly damaging	Het
Garnl3	A	T	2: 32,977,100 (GRCm39)	M1K	probably null	Het
Gm37267	T	G	1: 180,338,083 (GRCm39)		noncoding transcript	Het
Gpbar1	C	T	1: 74,318,702 (GRCm39)	A315V	probably damaging	Het
Grm2	T	C	9: 106,524,844 (GRCm39)	I624V	probably benign	Het
Hmcn1	T	C	1: 150,468,836 (GRCm39)	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,716,448 (GRCm39)	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,385,241 (GRCm39)	S240P	unknown	Het
Igkv4-91	A	G	6: 68,745,604 (GRCm39)	I98T	probably damaging	Het
Krt72	T	C	15: 101,694,469 (GRCm39)	N142S	probably damaging	Het
Kynu	T	A	2: 43,569,830 (GRCm39)	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,434,898 (GRCm39)		probably benign	Het
Man1a2	C	A	3: 100,524,372 (GRCm39)	V359F	probably damaging	Het
Mast1	T	C	8: 85,647,287 (GRCm39)	I623M	probably damaging	Het
Mb	A	G	15: 76,906,687 (GRCm39)		probably null	Het
Mcm4	A	C	16: 15,452,374 (GRCm39)	L113*	probably null	Het
Mcub	C	T	3: 129,710,685 (GRCm39)	W249*	probably null	Het
Mme	T	A	3: 63,247,453 (GRCm39)	V246E	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	A	G	11: 116,025,098 (GRCm39)	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,455,420 (GRCm39)	M89K	probably benign	Het
Notch4	A	G	17: 34,796,536 (GRCm39)	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,652,941 (GRCm39)	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Or12d12	T	A	17: 37,611,095 (GRCm39)	T73S	probably benign	Het
Or12d14-ps1	A	T	17: 37,673,337 (GRCm39)	I107L	probably benign	Het
Or14a259	A	T	7: 86,012,692 (GRCm39)	N284K	probably damaging	Het
Or5m12	T	A	2: 85,734,715 (GRCm39)	I228F	probably benign	Het
Or8b36	G	T	9: 37,937,822 (GRCm39)	C240F	probably damaging	Het
Or8k28	A	T	2: 86,286,153 (GRCm39)	I154N	possibly damaging	Het
Palld	A	T	8: 62,002,815 (GRCm39)		probably benign	Het
Pcdhga10	T	C	18: 37,881,253 (GRCm39)	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,890,459 (GRCm39)	Y489C	probably damaging	Het
Pgm2	T	C	5: 64,261,237 (GRCm39)	Y244H	probably benign	Het
Phactr4	A	T	4: 132,105,759 (GRCm39)	S102R	probably damaging	Het
Plekha5	A	G	6: 140,471,636 (GRCm39)	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,696,013 (GRCm39)	D255G	probably benign	Het
Rgs3	T	C	4: 62,549,532 (GRCm39)	V438A	probably benign	Het
Rnf186	A	G	4: 138,695,254 (GRCm39)	T265A	probably benign	Het
Ror1	T	C	4: 100,283,195 (GRCm39)	F420S	probably benign	Het
Rtkn2	A	G	10: 67,841,463 (GRCm39)	K204E	probably damaging	Het
Rundc1	A	G	11: 101,324,874 (GRCm39)	T527A	probably benign	Het
Samd4	T	C	14: 47,303,920 (GRCm39)	S301P	probably damaging	Het
Scaf1	G	A	7: 44,655,303 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,217,210 (GRCm39)	V1034A	probably benign	Het
Stab2	T	C	10: 86,778,099 (GRCm39)	D743G	probably damaging	Het
Stim1	A	T	7: 102,003,779 (GRCm39)	I71F	probably damaging	Het
Stk17b	T	C	1: 53,796,693 (GRCm39)	D358G	probably benign	Het
Sun2	A	G	15: 79,611,765 (GRCm39)	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,845,091 (GRCm39)	T41S	probably benign	Het
Tead3	T	A	17: 28,552,589 (GRCm39)	E268V	probably damaging	Het
Tead3	A	G	17: 28,553,962 (GRCm39)	S131P	probably benign	Het
Tepsin	A	T	11: 119,982,351 (GRCm39)	M505K	possibly damaging	Het
Trbv28	A	G	6: 41,248,668 (GRCm39)	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,749,142 (GRCm39)	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Uaca	T	C	9: 60,753,283 (GRCm39)	V76A	probably damaging	Het
Vwf	A	T	6: 125,663,425 (GRCm39)	T2789S	probably benign	Het
Yipf4	T	C	17: 74,801,089 (GRCm39)	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp804b	A	T	5: 6,926,479 (GRCm39)	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,538,183 (GRCm39)	G969R	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
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
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'- GTCAAGCTCCAAGTACTATTATGAC -3'
(R):5'- TCCTGTACTGAGAGGGTTGAAAC -3'

Sequencing Primer
(F):5'- AGGTAAACCAGCAGTTGG -3'
(R):5'- GTACTGAGAGGGTTGAAACTATAATC -3'

Posted On

2016-03-17