Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02081:Fbxo18'

192596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

IGL02081

Quality Score

Status

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11764127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 285 (D285G)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071564]

AlphaFold

Q8K2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071564
AA Change: D285G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: D285G

Domain	Start	End	E-Value	Type
FBOX	213	256	3.94e-3	SMART
Pfam:UvrD-helicase	626	692	8e-10	PFAM
Pfam:UvrD_C	862	935	1.7e-12	PFAM
Pfam:UvrD_C_2	867	931	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192171

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, members of which are 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 three 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 Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	G	T	8: 43,570,196	L86I	probably damaging	Het
Adamts17	C	T	7: 67,062,110	R726C	probably damaging	Het
Aff1	A	G	5: 103,834,305	K778R	probably damaging	Het
Agr2	G	A	12: 35,995,656		probably null	Het
Alms1	T	A	6: 85,620,303	C1173S	possibly damaging	Het
Apol7b	A	G	15: 77,423,536	L253P	possibly damaging	Het
Atp10a	A	T	7: 58,827,856	T1268S	possibly damaging	Het
Atr	A	T	9: 95,883,205	K1149N	probably damaging	Het
Bri3bp	G	A	5: 125,441,897		probably null	Het
Ccser1	T	A	6: 61,311,168	L105*	probably null	Het
Cyp4a10	G	A	4: 115,521,172	A152T	possibly damaging	Het
Dock2	C	T	11: 34,254,355	D1396N	probably benign	Het
Ext1	A	T	15: 53,073,446	Y634*	probably null	Het
Gcn1l1	A	G	5: 115,585,871	K529E	probably damaging	Het
H2-Q2	A	G	17: 35,342,708	D58G	probably damaging	Het
Hid1	T	C	11: 115,348,506	D776G	possibly damaging	Het
Il18r1	A	T	1: 40,498,505	S477C	probably damaging	Het
Jmjd1c	T	G	10: 67,219,526	F242V	probably benign	Het
Krtap4-1	G	A	11: 99,628,184		probably benign	Het
Mms19	A	G	19: 41,949,979		probably null	Het
Mpdz	T	C	4: 81,335,869	T1009A	probably damaging	Het
Mrpl22	T	C	11: 58,171,821	I19T	probably benign	Het
Mrvi1	T	C	7: 110,924,074		probably null	Het
Nup88	A	G	11: 70,954,654		probably benign	Het
Olfr1442	A	T	19: 12,674,816	I204F	probably benign	Het
Pnpo	T	C	11: 96,939,324	Y183C	probably damaging	Het
Poln	C	T	5: 34,129,139	M228I	probably benign	Het
Scara5	T	C	14: 65,730,655	W126R	possibly damaging	Het
Scmh1	T	G	4: 120,515,078	C359W	probably damaging	Het
Snrpn	T	C	7: 59,987,446	I41V	possibly damaging	Het
St8sia1	T	C	6: 142,829,227	M209V	probably benign	Het
Stard9	T	A	2: 120,664,910	S89T	probably damaging	Het
Tet1	T	C	10: 62,813,818	T1667A	probably damaging	Het
Tmem217	C	T	17: 29,526,373	G128S	probably damaging	Het
Ttpal	A	G	2: 163,615,388	N260S	probably benign	Het
Vwa2	A	G	19: 56,902,236	D233G	probably benign	Het
Wdr83	A	G	8: 85,075,843	F258L	probably benign	Het
Zfp277	A	T	12: 40,328,796	L354*	probably null	Het
Zfp516	A	G	18: 82,955,733	R19G	probably benign	Het

Other mutations in Fbxo18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Fbxo18	APN	2	11757523	nonsense	probably null
IGL02082:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02084:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02086:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02369:Fbxo18	APN	2	11747158	missense	possibly damaging	0.61
IGL02584:Fbxo18	APN	2	11759958	missense	probably benign	0.07
IGL03138:Fbxo18	UTSW	2	11749509	intron	probably benign
R0384:Fbxo18	UTSW	2	11749578	missense	probably damaging	1.00
R0479:Fbxo18	UTSW	2	11758419	missense	probably damaging	1.00
R0972:Fbxo18	UTSW	2	11764088	splice site	probably benign
R1420:Fbxo18	UTSW	2	11767682	missense	probably benign	0.01
R1827:Fbxo18	UTSW	2	11763888	missense	possibly damaging	0.88
R1832:Fbxo18	UTSW	2	11767400	missense	probably benign	0.08
R1960:Fbxo18	UTSW	2	11757528	missense	probably damaging	0.98
R2040:Fbxo18	UTSW	2	11769895	missense	possibly damaging	0.66
R2044:Fbxo18	UTSW	2	11762970	missense	possibly damaging	0.89
R2102:Fbxo18	UTSW	2	11758289	missense	probably benign	0.18
R3236:Fbxo18	UTSW	2	11769826	missense	probably damaging	1.00
R3975:Fbxo18	UTSW	2	11767210	missense	possibly damaging	0.72
R4504:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4505:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4507:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4799:Fbxo18	UTSW	2	11755747	missense	probably damaging	1.00
R4894:Fbxo18	UTSW	2	11762960	missense	probably damaging	1.00
R4994:Fbxo18	UTSW	2	11764230	missense	probably damaging	1.00
R5579:Fbxo18	UTSW	2	11748993	missense	probably damaging	0.97
R5801:Fbxo18	UTSW	2	11769826	missense	probably damaging	1.00
R6255:Fbxo18	UTSW	2	11748446	missense	probably benign	0.31
R7011:Fbxo18	UTSW	2	11762963	missense	probably damaging	1.00
R7177:Fbxo18	UTSW	2	11755711	missense	probably damaging	1.00
R7243:Fbxo18	UTSW	2	11751525	missense	probably benign	0.11
R7331:Fbxo18	UTSW	2	11763986	missense	probably benign
R7361:Fbxo18	UTSW	2	11747076	missense	probably damaging	1.00
R7460:Fbxo18	UTSW	2	11756685	missense	probably benign	0.38
R7541:Fbxo18	UTSW	2	11749537	missense	probably benign	0.05
R8000:Fbxo18	UTSW	2	11767289	missense	probably benign	0.21
R8010:Fbxo18	UTSW	2	11767632	missense	probably benign	0.15
R8056:Fbxo18	UTSW	2	11743630	missense	probably benign	0.01
R8517:Fbxo18	UTSW	2	11777430	critical splice donor site	probably null
R8686:Fbxo18	UTSW	2	11755658	missense	probably benign	0.00
R8883:Fbxo18	UTSW	2	11749111	missense	probably benign	0.21
R9093:Fbxo18	UTSW	2	11759990	missense	probably damaging	1.00
R9306:Fbxo18	UTSW	2	11767576	missense	probably benign	0.00
R9342:Fbxo18	UTSW	2	11749603	missense	probably benign	0.01

Posted On

2014-05-14