Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Fbxo4'

517129

Institutional Source

Beutler Lab

Gene Symbol

Fbxo4

Ensembl Gene

ENSMUSG00000022184

Gene Name

F-box protein 4

Synonyms

1700096C12Rik

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

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

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3994927-4009055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3995216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 376 (L376P)

Ref Sequence

ENSEMBL: ENSMUSP00000022791 (fasta)

Gene Model

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

AlphaFold

Q8CHQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022791
AA Change: L376P

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

SMART Domains

Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: L376P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148817

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	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
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'- CTTGCAACTCATTCATGGTAAAGTG -3'
(R):5'- AACTTTATATGCCCCAGTACAAGG -3'

Sequencing Primer
(F):5'- TGTCAGAAACCCAGCTGTG -3'
(R):5'- GACTTTTGGTATAGCATTGGAAATG -3'

Posted On

2018-05-21