Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Fbxo18'

204835

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

039859-MU

Accession Numbers

Essential gene?

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

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11767400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 157 (L157I)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

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

AlphaFold

Q8K2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071564
AA Change: L157I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: L157I

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

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, 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,556,860	D143V	unknown	Het
Abca8a	A	T	11: 110,071,451	N525K	probably damaging	Het
Abhd12	T	A	2: 150,848,418	D119V	probably damaging	Het
Adamts20	A	T	15: 94,286,344	M1526K	probably benign	Het
AI481877	T	G	4: 59,066,441	I768L	probably benign	Het
Ankdd1a	A	T	9: 65,504,489		probably null	Het
Ankrd1	C	T	19: 36,114,978	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,054,975	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,325,092		probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,853,532	Q681*	probably null	Het
Cep104	T	A	4: 154,002,546	V842E	probably benign	Het
Chac2	T	C	11: 30,977,568	N117S	probably benign	Het
Cldn8	T	A	16: 88,562,858	I60F	probably benign	Het
Col16a1	G	A	4: 130,077,057		probably null	Het
Col4a1	A	G	8: 11,214,644		probably benign	Het
Cyp2a4	G	T	7: 26,312,210	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,569,731	G176D	probably benign	Het
Dmxl2	A	C	9: 54,460,949	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,614,059	K118R	probably damaging	Het
Eif3h	T	C	15: 51,865,436	T8A	possibly damaging	Het
Fam71d	G	A	12: 78,715,506		probably benign	Het
Fbxo40	C	A	16: 36,968,856	G631*	probably null	Het
Gabrb1	T	A	5: 72,121,938		probably null	Het
Galc	A	G	12: 98,234,240		probably null	Het
Gm10436	T	C	12: 88,178,448	E44G	possibly damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,617,293	M31L	probably benign	Het
Lamc2	C	T	1: 153,166,187	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,685,139	D173G	probably damaging	Het
Llgl2	G	T	11: 115,851,100	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc66	G	A	5: 73,607,426	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,762,766	K46E	probably damaging	Het
Map3k5	A	G	10: 20,099,560	N88D	probably damaging	Het
Mertk	A	T	2: 128,762,212	E422V	probably benign	Het
Mixl1	A	G	1: 180,694,731	V195A	probably benign	Het
Nmnat3	T	C	9: 98,399,468	V41A	probably damaging	Het
Olfr13	A	G	6: 43,174,900	R305G	probably benign	Het
Olfr398	A	T	11: 73,984,493	N38K	probably damaging	Het
Olfr854	A	G	9: 19,567,196	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,857,316	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,793,269	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,048	V821A	probably damaging	Het
Pifo	C	T	3: 106,014,596	E4K	possibly damaging	Het
Plxna4	A	C	6: 32,197,826	D1109E	probably benign	Het
Ppard	A	G	17: 28,297,110	M103V	probably benign	Het
Ralgapa1	T	C	12: 55,757,967	T515A	probably benign	Het
Rin2	A	G	2: 145,861,171	I596V	possibly damaging	Het
Rnls	A	G	19: 33,168,495	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,967,179	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628		probably benign	Het
Sardh	A	G	2: 27,235,569	V311A	possibly damaging	Het
Sbno2	G	T	10: 80,060,605	Y889*	probably null	Het
Sclt1	A	G	3: 41,727,111	V91A	probably damaging	Het
Sema4g	T	A	19: 44,999,017	V534E	probably benign	Het
Slc10a1	G	A	12: 80,953,672	S351F	probably benign	Het
Slc19a3	A	T	1: 83,022,747	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,333,710	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,692,950	I114L	probably benign	Het
Smpd2	A	T	10: 41,488,236	C189S	probably benign	Het
Spon1	T	A	7: 114,016,785	V295D	probably benign	Het
Tet3	A	G	6: 83,403,645	S514P	probably benign	Het
Tnk1	T	C	11: 69,856,928	I49M	probably damaging	Het
Trim80	A	G	11: 115,446,793	T431A	probably benign	Het
Vgf	A	T	5: 137,031,299	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,731,796	L135F	probably benign	Het
Vps37d	C	T	5: 135,073,740	A128T	possibly damaging	Het
Wdr60	T	A	12: 116,207,743	S958C	probably damaging	Het
Wwp1	T	C	4: 19,650,197	D323G	probably benign	Het
Zfp456	T	A	13: 67,367,363	I75L	probably benign	Het
Zfp990	A	G	4: 145,538,210	I593V	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGATTCCAGTAGAGGTCCTCC -3'
(R):5'- CAGTTGTACTCTGCCTCAGG -3'

Sequencing Primer
(F):5'- GCAAAGATGTGTCTCAGCACTTC -3'
(R):5'- ACTCTGCCTCAGGTGGATAATG -3'

Posted On

2014-06-23