Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02084:Fbxo18'

283465

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?

Probably non essential (E-score: 0.213) question?

Stock #

IGL02084

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,130,597	F1096L	probably benign	Het
Abcd2	T	A	15: 91,178,327		probably null	Het
Actr10	T	C	12: 70,954,649	I210T	probably damaging	Het
Apoa5	A	T	9: 46,270,652	D342V	probably damaging	Het
Bicra	G	A	7: 15,987,738	T618I	probably benign	Het
Birc6	C	A	17: 74,608,282	Q1642K	probably benign	Het
C130060K24Rik	T	C	6: 65,381,610	V106A	probably benign	Het
Cenpn	A	G	8: 116,940,895	Y331C	probably damaging	Het
Clcn7	T	A	17: 25,157,925	I624N	probably benign	Het
Eddm3b	A	T	14: 51,116,630	H25L	unknown	Het
Fam90a1a	A	G	8: 21,959,297	E19G	probably benign	Het
Fbxo41	A	T	6: 85,480,765		probably null	Het
Frem3	A	G	8: 80,612,443	D455G	possibly damaging	Het
Gart	T	C	16: 91,621,600	Q86R	probably benign	Het
Gm45234	T	C	6: 124,747,695		probably benign	Het
Gm5431	C	T	11: 48,889,085	D337N	probably benign	Het
Gm6882	T	A	7: 21,427,587	I119F	probably damaging	Het
Kcns3	C	T	12: 11,092,194	R168Q	probably damaging	Het
Klra17	T	A	6: 129,831,593	N226Y	probably damaging	Het
Macf1	T	C	4: 123,459,374	D1504G	probably damaging	Het
Macf1	T	C	4: 123,432,603	N2915D	probably benign	Het
Mgat4d	C	T	8: 83,368,981	S295L	possibly damaging	Het
Mslnl	T	C	17: 25,746,151	V497A	probably benign	Het
Mtor	T	C	4: 148,470,680	S920P	probably damaging	Het
Mynn	C	A	3: 30,611,615	H465Q	probably damaging	Het
Myo16	A	G	8: 10,361,088	E182G	probably damaging	Het
Ncln	T	C	10: 81,488,596	I417V	probably benign	Het
Nlrp4f	A	T	13: 65,194,171	C553*	probably null	Het
Olfr1084	T	A	2: 86,639,636	Q24L	possibly damaging	Het
Olfr177	G	A	16: 58,873,036	T38I	probably damaging	Het
Pkhd1	T	C	1: 20,377,399	I2257V	probably damaging	Het
Ppp4r4	T	A	12: 103,600,398	S35T	possibly damaging	Het
Rnf213	T	C	11: 119,445,673	V3291A	probably benign	Het
Runx2	C	T	17: 44,724,829	A173T	probably damaging	Het
Ryr2	A	T	13: 11,792,762	Y833*	probably null	Het
Setbp1	G	A	18: 78,857,410	A1014V	probably damaging	Het
Slc25a38	A	G	9: 120,120,446		probably benign	Het
Stk4	A	G	2: 164,086,607	T120A	probably benign	Het
Taf3	A	T	2: 10,042,519	V106D	probably benign	Het
Uchl5	A	G	1: 143,802,174	I139V	possibly damaging	Het
Ung	A	G	5: 114,130,576	E25G	probably benign	Het
Wrn	A	G	8: 33,285,179	V619A	probably benign	Het

Other mutations in Fbxo18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Fbxo18	APN	2	11757523	nonsense	probably null
IGL02081:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02082: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

2015-04-16