Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Fbxo18'

82847

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

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

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 11764088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

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

AlphaFold

Q8K2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071564

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594

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: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 40,755,131	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,450,983	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,640,007		probably null	Het
Bco2	A	T	9: 50,536,315	D369E	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Brsk2	C	G	7: 141,993,704		probably benign	Het
Cct8	A	G	16: 87,486,620	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,764	Q28H	probably benign	Het
Cep290	A	G	10: 100,518,762	T896A	probably benign	Het
Chrm2	T	A	6: 36,524,466	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,847,705	H168L	possibly damaging	Het
Cog3	A	T	14: 75,717,170	M643K	probably benign	Het
Col6a5	A	G	9: 105,940,285	S276P	unknown	Het
Colgalt2	T	C	1: 152,471,744	V143A	probably damaging	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
Ddx56	A	T	11: 6,267,718	M1K	probably null	Het
Dnah3	C	T	7: 120,035,340		probably null	Het
Dnah6	T	C	6: 73,159,193	T988A	possibly damaging	Het
Esp15	T	A	17: 39,642,666	F15I	possibly damaging	Het
Gm8773	T	A	5: 5,575,512	D69E	probably benign	Het
Gucy1b2	A	T	14: 62,408,678	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,414,369	I393V	possibly damaging	Het
Herc1	C	A	9: 66,372,145	R112S	probably damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Itga7	G	A	10: 128,942,877	R291H	probably damaging	Het
Jag1	A	G	2: 137,083,451	L1077S	possibly damaging	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,658,763	Y134C	probably damaging	Het
Map2k2	C	A	10: 81,119,648	D67E	probably benign	Het
Mest	G	A	6: 30,740,684	W14*	probably null	Het
Mier2	A	G	10: 79,544,621		probably benign	Het
Mog	A	G	17: 37,017,532	V169A	probably benign	Het
Mov10l1	T	C	15: 89,021,279	V879A	probably damaging	Het
Mrgpra9	A	G	7: 47,235,455	S155P	probably damaging	Het
Mtmr10	A	G	7: 64,326,709	D418G	probably damaging	Het
Mtpn	T	C	6: 35,521,976	D58G	probably null	Het
Myh8	A	G	11: 67,297,759	R1056G	probably damaging	Het
Nek1	T	A	8: 61,089,431		probably null	Het
Olfr1043	A	C	2: 86,162,304	L215R	possibly damaging	Het
Olfr1282	T	C	2: 111,335,418	Y220C	probably benign	Het
Olfr883	T	A	9: 38,026,560	F251L	possibly damaging	Het
Pcnx	G	A	12: 81,913,412	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,757,711	D495G	probably benign	Het
Plppr3	A	G	10: 79,865,086	S641P	probably damaging	Het
Pramef6	T	A	4: 143,896,963	T214S	probably benign	Het
Prelp	A	T	1: 133,914,676	Y244N	probably damaging	Het
Prg2	C	A	2: 84,982,049	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,944,999	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,208,502	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,431,308	D141V	probably damaging	Het
Sacs	T	A	14: 61,211,963	Y3819*	probably null	Het
Serinc5	A	G	13: 92,688,620	T186A	probably benign	Het
Slc15a2	A	G	16: 36,757,139	S422P	probably benign	Het
Slc2a8	A	T	2: 32,975,367	V366D	probably benign	Het
Smarca1	T	C	X: 47,849,987	R715G	possibly damaging	Het
Spdef	C	T	17: 27,715,023	A275T	probably damaging	Het
Tcf21	T	C	10: 22,819,722	K61R	probably benign	Het
Tep1	A	G	14: 50,824,296		probably benign	Het
Thada	G	A	17: 84,429,062		probably benign	Het
Thap11	T	A	8: 105,856,178	I273N	probably damaging	Het
Tmem129	T	A	5: 33,654,768	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,685,143	Y1086C	probably damaging	Het
Togaram2	A	G	17: 71,707,314	Y619C	probably damaging	Het
Top1	C	T	2: 160,721,025	A717V	probably damaging	Het
Trpm7	G	A	2: 126,805,049	P1507S	probably benign	Het
Ubr2	A	T	17: 46,934,261		probably null	Het
Usp30	T	C	5: 114,111,864		probably benign	Het
Vmn1r3	T	A	4: 3,185,125	I61F	probably damaging	Het
Zbtb22	C	T	17: 33,917,352	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,398,310	H543L	probably damaging	Het
Zranb3	G	T	1: 127,956,646	P1001Q	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
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

Predicted Primers

PCR Primer
(F):5'- ACCATTTCCCAGAGTATCCCTCACG -3'
(R):5'- AAACCAAGGCCCAGTTGTCCTGTC -3'

Sequencing Primer
(F):5'- AGAGTATCCCTCACGGCCTC -3'
(R):5'- CGCTCTTCTGAGAATCATGGC -3'

Posted On

2013-11-08