Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Fbxo25'

418184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo25

Ensembl Gene

ENSMUSG00000038365

Gene Name

F-box protein 25

Synonyms

9130015I06Rik, Fbx25

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

13957803-13990522 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 13974019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043520] [ENSMUST00000209913]

AlphaFold

Q9D2Y6

Predicted Effect

probably null
Transcript: ENSMUST00000043520

SMART Domains

Protein: ENSMUSP00000039544
Gene: ENSMUSG00000038365

Domain	Start	End	E-Value	Type
low complexity region	209	222	N/A	INTRINSIC
Blast:FBOX	230	271	1e-19	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000209913

Predicted Effect

probably benign
Transcript: ENSMUST00000210280

Coding Region Coverage

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 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. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	Het

Other mutations in Fbxo25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Fbxo25	APN	8	13,973,922 (GRCm39)	unclassified	probably benign
IGL03112:Fbxo25	APN	8	13,971,034 (GRCm39)	missense	probably benign	0.18
IGL03403:Fbxo25	APN	8	13,979,423 (GRCm39)	missense	probably benign	0.00
R0720:Fbxo25	UTSW	8	13,985,222 (GRCm39)	missense	probably damaging	1.00
R0755:Fbxo25	UTSW	8	13,985,219 (GRCm39)	missense	probably benign	0.00
R1865:Fbxo25	UTSW	8	13,985,248 (GRCm39)	missense	probably damaging	1.00
R2043:Fbxo25	UTSW	8	13,971,905 (GRCm39)	missense	probably damaging	0.99
R4213:Fbxo25	UTSW	8	13,989,581 (GRCm39)	missense	probably damaging	1.00
R4248:Fbxo25	UTSW	8	13,989,617 (GRCm39)	missense	probably damaging	1.00
R5380:Fbxo25	UTSW	8	13,971,886 (GRCm39)	missense	probably benign	0.10
R7450:Fbxo25	UTSW	8	13,981,235 (GRCm39)	missense	probably benign	0.09
R8264:Fbxo25	UTSW	8	13,979,393 (GRCm39)	missense	possibly damaging	0.89
R8409:Fbxo25	UTSW	8	13,964,999 (GRCm39)	nonsense	probably null
R9055:Fbxo25	UTSW	8	13,965,023 (GRCm39)	missense	possibly damaging	0.47
R9086:Fbxo25	UTSW	8	13,989,621 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02