Mutagenetix > Incidental Mutations

Incidental Mutation 'R8010:Fbxo18'

616836

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11767632 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 79 (N79K)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071564
AA Change: N79K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: N79K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Jcad	A	G	18: 4,674,581	D781G	probably benign	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Krtap5-5	T	C	7: 142,229,911	M1V	probably null	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Mapk4	A	T	18: 73,930,576	I525N	probably benign	Het
Megf6	T	C	4: 154,270,507	F1457S	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Psg20	T	C	7: 18,681,067	D301G	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTAACGCCATCCCACTGG -3'
(R):5'- TTGACCCATAAGCACACCGG -3'

Sequencing Primer
(F):5'- ACTGGCCGCTCTCTGTG -3'
(R):5'- GTGTCTTTTCTCCGTTAGCATAG -3'

Posted On

2020-01-23