Mutagenetix > Incidental Mutation

Incidental Mutation 'R8883:Fbxo18'

677088

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11749111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 807 (F807L)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071564] [ENSMUST00000131893]

AlphaFold

Q8K2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071564
AA Change: F807L

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: F807L

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

probably benign
Transcript: ENSMUST00000131893
AA Change: F222L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: F222L

Domain	Start	End	E-Value	Type
SCOP:d1pjr_1	63	141	5e-9	SMART

Meta Mutation Damage Score

0.1298

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	G	T	6: 41,032,371	Y176*	probably null	Het
Abca13	T	C	11: 9,333,168	S3197P	probably benign	Het
Arih2	A	G	9: 108,609,793	S315P	probably damaging	Het
Atp1b3	A	T	9: 96,364,069	L29Q	probably damaging	Het
Bsn	G	A	9: 108,113,028	P1842S	probably damaging	Het
Ccnb1ip1	G	C	14: 50,789,902	P248A	probably benign	Het
Cep76	T	C	18: 67,633,470	Q262R	probably benign	Het
Cox10	T	C	11: 63,993,949	E210G	probably damaging	Het
Dcaf1	T	G	9: 106,847,640		probably benign	Het
Dgki	A	T	6: 37,016,673	D584E	probably damaging	Het
Evpl	T	C	11: 116,230,417	E428G	probably damaging	Het
Fam46c	C	A	3: 100,472,391	A350S	probably benign	Het
Fbxo11	A	G	17: 87,997,616	V533A		Het
Fermt3	G	T	19: 7,003,232	D322E	probably damaging	Het
Fsip2	G	T	2: 82,979,180	V1948L	possibly damaging	Het
Gata4	T	C	14: 63,204,755	D206G	probably benign	Het
Gjc1	A	G	11: 102,800,943	V78A	probably damaging	Het
Gnl1	A	G	17: 35,982,598	N225S	probably damaging	Het
Hmces	G	A	6: 87,933,414	A269T	probably benign	Het
Kalrn	A	T	16: 33,993,655	N2434K	probably damaging	Het
Kif1b	A	T	4: 149,276,885	S49T	probably benign	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lap3	C	A	5: 45,511,930	H474N	probably benign	Het
Ldlrad1	A	G	4: 107,216,215	Y149C	probably damaging	Het
Lsm8	T	C	6: 18,851,748	V62A	probably benign	Het
Map3k14	T	G	11: 103,239,452	Q213P	probably benign	Het
Mboat2	T	G	12: 24,959,034	H478Q		Het
Mepce	C	A	5: 137,786,517		probably benign	Het
Mical1	G	A	10: 41,479,640	R233H		Het
Muc2	A	G	7: 141,700,900	H216R	probably damaging	Het
Ntmt1	G	A	2: 30,822,454	A170T	probably benign	Het
Olfr1141	T	A	2: 87,753,494	L166F	probably damaging	Het
Olfr27	A	G	9: 39,144,787	H229R	probably benign	Het
Olfr697	A	G	7: 106,741,067	I289T	possibly damaging	Het
Olfr707	A	C	7: 106,891,329	M260R	probably damaging	Het
Pebp4	G	T	14: 69,847,649	C52F	probably damaging	Het
Pigm	T	A	1: 172,377,518	Y274N	probably damaging	Het
Pik3r6	T	C	11: 68,533,642	S358P	probably benign	Het
Plekhd1	T	C	12: 80,720,594	I252T	probably benign	Het
Racgap1	A	G	15: 99,628,659	V341A	probably benign	Het
Rprd1a	T	C	18: 24,507,203	D172G	possibly damaging	Het
Spg11	T	C	2: 122,113,080	D197G	probably damaging	Het
Spta1	A	T	1: 174,193,579	K574N	possibly damaging	Het
Srrd	A	T	5: 112,339,924	F130L	possibly damaging	Het
Stim1	A	T	7: 102,431,050	H547L	unknown	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Tap1	T	C	17: 34,187,893	V5A	unknown	Het
Theg	T	C	10: 79,576,640	D339G	probably benign	Het
Usp45	G	A	4: 21,825,006	G586D	probably damaging	Het
Vps13c	G	T	9: 67,948,197	A2515S	probably benign	Het
Zfp521	C	A	18: 13,846,080	L425F	probably damaging	Het
Zfyve28	T	C	5: 34,217,867		probably null	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
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
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'- GGGAAGGTAACAGCCACTTTC -3'
(R):5'- GGCAGCTGTACACTCCATCTTC -3'

Sequencing Primer
(F):5'- GGAAGGTAACAGCCACTTTCCTTAC -3'
(R):5'- GTACACTCCATCTTCTCTGCGGTAC -3'

Posted On

2021-08-02