Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Fbxo18'

448321

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

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

Stock #

R5801 (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 (GRCm38)

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]

AlphaFold

Q8K2I9

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,342,361	V667I	probably damaging	Het
Adamts14	T	C	10: 61,202,996	S912G	probably damaging	Het
Adamts20	C	A	15: 94,347,670	E584*	probably null	Het
Ago3	A	T	4: 126,371,768	N284K	possibly damaging	Het
Alx3	T	A	3: 107,604,941	Y298*	probably null	Het
Arhgap32	A	G	9: 32,255,788	I574V	probably benign	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,803,473	D400G	probably damaging	Het
Cdc73	T	A	1: 143,608,543	H525L	probably benign	Het
Cep135	A	G	5: 76,630,676	E674G	probably damaging	Het
Cic	G	A	7: 25,271,438	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,389,481		probably null	Het
Col6a5	A	G	9: 105,948,367	V9A	unknown	Het
Cpsf7	A	T	19: 10,539,632	D366V	probably benign	Het
Cuedc2	T	C	19: 46,331,357	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,604,569	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,566,497		probably null	Het
Dennd1b	T	A	1: 139,039,989		probably null	Het
Dpy19l3	T	C	7: 35,725,298	T111A	probably benign	Het
Edn1	C	A	13: 42,306,806	A179E	probably benign	Het
Eif2b1	T	C	5: 124,574,712		probably null	Het
Epha5	A	G	5: 84,331,226		probably null	Het
Erc1	T	A	6: 119,773,822	N466I	probably damaging	Het
Ermp1	A	G	19: 29,612,828	F825L	probably damaging	Het
Fbxo41	G	T	6: 85,484,533	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,421,389	S14P	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm6505	A	T	3: 28,764,967		noncoding transcript	Het
Ighv1-18	T	A	12: 114,682,708	D91V	probably damaging	Het
Imp3	A	G	9: 56,937,802	D99G	probably benign	Het
Iqub	T	C	6: 24,449,769	K699R	probably benign	Het
Itpk1	A	G	12: 102,573,945	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,836,510	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,447,796	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,301,786	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,301,882	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,402,268	T54A	probably damaging	Het
Ociad2	A	G	5: 73,326,299	F60S	probably damaging	Het
Olfr397	T	C	11: 73,964,946	F113L	probably benign	Het
Polk	T	A	13: 96,483,586	H723L	probably damaging	Het
Prickle4	C	A	17: 47,688,773	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,654,922	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,337,600	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,970,056	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,270,073	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,989,783	S155P	probably damaging	Het
Safb2	T	C	17: 56,563,103	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,356,816	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,172,083	F482L	probably benign	Het
Slc35e3	T	A	10: 117,745,862	M109L	probably benign	Het
Slco4c1	T	C	1: 96,872,084	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,947,631		noncoding transcript	Het
Sptan1	A	G	2: 30,030,601		probably null	Het
Sptlc2	T	C	12: 87,341,771		probably null	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Strip1	A	C	3: 107,621,441	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,557,153	S387T	probably benign	Het
Thbs2	A	T	17: 14,687,863	F213I	probably damaging	Het
Thbs3	A	T	3: 89,224,397	Y692F	probably benign	Het
Tktl2	C	A	8: 66,513,647	A619E	probably benign	Het
Tmc3	A	T	7: 83,622,478	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,784,900	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,898,078	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 127,022,837		probably null	Het
Wdr35	A	G	12: 9,006,723	T503A	possibly damaging	Het
Zfp109	T	C	7: 24,228,701	K436E	probably damaging	Het
Zfp423	A	G	8: 87,859,362	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,473,358	K26E	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
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
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'- CAGGCTTACTTGGGCTCTAAC -3'
(R):5'- TTGCGTATAACTCACTGGCGG -3'

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

Posted On

2016-12-15