Mutagenetix > Incidental Mutations

Incidental Mutation 'R3236:Fbxo18'

259008

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

040618-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11769826 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071564
AA Change: D36G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: D36G

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

Meta Mutation Damage Score

0.2368

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,368,170	L255F	probably damaging	Het
9130011E15Rik	A	T	19: 45,975,283		probably benign	Het
Aff2	T	A	X: 69,863,937	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,823,087		probably null	Het
Atm	T	A	9: 53,479,748	D1842V	probably benign	Het
Bcar3	C	A	3: 122,524,996	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,447,995	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,807,653	N268K	unknown	Het
Col6a1	G	A	10: 76,711,320	T737M	unknown	Het
Cyp3a25	T	C	5: 146,003,128		probably benign	Het
Dnah17	T	C	11: 118,094,854	T1466A	probably benign	Het
Dnah9	G	A	11: 65,954,989	T3023I	probably benign	Het
Ecm1	G	T	3: 95,734,846	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,831,097		probably null	Het
Fyb	A	C	15: 6,630,116	D434A	probably damaging	Het
Gm5478	A	G	15: 101,644,303	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,425,700	T155K	probably damaging	Het
Hk1	T	C	10: 62,296,019		probably null	Het
Kdm6b	A	G	11: 69,406,366	Y387H	probably damaging	Het
Lipn	A	G	19: 34,068,738	N37S	probably benign	Het
Lrig3	G	A	10: 125,997,187	C310Y	probably damaging	Het
Map6	T	A	7: 99,336,824	V645E	probably damaging	Het
Memo1	A	T	17: 74,202,352	I224K	probably damaging	Het
Morc2a	T	C	11: 3,683,612	I602T	probably benign	Het
N4bp3	A	T	11: 51,645,934	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,944,037	I161F	probably damaging	Het
Notch3	T	C	17: 32,158,461	R214G	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr116	T	C	17: 37,624,236	E133G	possibly damaging	Het
Olfr1178	T	C	2: 88,391,406	I53T	probably benign	Het
Pdgfra	T	C	5: 75,167,936	V243A	probably damaging	Het
Piwil4	A	G	9: 14,700,248		probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,445,907	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,291,812	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,408,028	V353I	possibly damaging	Het
Rrh	T	C	3: 129,811,711	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf4	T	A	16: 90,260,217	D82V	unknown	Het
Serhl	C	A	15: 83,104,403	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,338,754	V619A	probably damaging	Het
Sf3b3	A	G	8: 110,812,020	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,639,123	I453V	probably damaging	Het
Slf2	A	G	19: 44,942,334	I617V	probably benign	Het
Snrnp200	T	A	2: 127,221,882	D660E	probably damaging	Het
Spata22	T	A	11: 73,345,887	F340I	probably damaging	Het
Speer4e	T	A	5: 14,934,925	E206D	possibly damaging	Het
Stard6	T	A	18: 70,500,486	M188K	probably damaging	Het
Stat6	G	A	10: 127,652,222	V282I	possibly damaging	Het
Supt20	T	C	3: 54,709,080	S253P	possibly damaging	Het
Szt2	A	C	4: 118,383,034		probably null	Het
Thsd4	C	A	9: 60,394,387	K208N	probably benign	Het
Thsd7b	C	T	1: 130,218,118	Q1588*	probably null	Het
Tmem167	C	T	13: 90,104,380	R52C	probably benign	Het
Ttn	T	C	2: 76,899,409		probably benign	Het
Usp39	G	A	6: 72,338,389		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,779,025	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,304	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,613,375	D1597G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTACTTGGGCTCTAACATTAG -3'
(R):5'- ATTTGCGTATAACTCACTGGCG -3'

Sequencing Primer
(F):5'- GGACAGAATTTCAATGGAAAACATAC -3'
(R):5'- TGGCGGGCCAGTGTTTG -3'

Posted On

2015-01-23