Mutagenetix > Incidental Mutation

Incidental Mutation 'R8952:Fbxl18'

681700

Institutional Source

Beutler Lab

Gene Symbol

Fbxl18

Ensembl Gene

ENSMUSG00000066640

Gene Name

F-box and leucine-rich repeat protein 18

Synonyms

B130019G13Rik, C330021B20Rik

MMRRC Submission

068714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142852701-142881176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142871502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 578 (A578T)

Ref Sequence

ENSEMBL: ENSMUSP00000106394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035985] [ENSMUST00000110766]

AlphaFold

E9PYR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035985
AA Change: A514T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: A514T

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
FBOX	20	61	1.69e-2	SMART
SCOP:d1yrga_	307	610	2e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110766
AA Change: A578T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: A578T

Domain	Start	End	E-Value	Type
low complexity region	58	78	N/A	INTRINSIC
FBOX	84	125	1.1e-4	SMART
SCOP:d1yrga_	371	674	2e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,025 (GRCm39)	S134T	probably damaging	Het
Adamts12	A	G	15: 11,286,065 (GRCm39)	N758S	probably damaging	Het
Asb3	C	A	11: 31,008,959 (GRCm39)	Q287K	probably damaging	Het
Bach1	T	A	16: 87,512,353 (GRCm39)	N25K	probably damaging	Het
Carmil2	T	A	8: 106,417,398 (GRCm39)	V552E	possibly damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dock3	A	G	9: 106,850,958 (GRCm39)	F848S	probably benign	Het
Dytn	G	A	1: 63,698,111 (GRCm39)	R299C		Het
Galr1	C	T	18: 82,411,909 (GRCm39)	C319Y	probably damaging	Het
Gstm7	T	C	3: 107,838,757 (GRCm39)		probably benign	Het
Hspa1l	G	T	17: 35,196,946 (GRCm39)	M328I	probably benign	Het
Itgad	A	T	7: 127,789,324 (GRCm39)	Y596F	probably damaging	Het
Krt19	T	A	11: 100,031,768 (GRCm39)	N395Y	possibly damaging	Het
Lrit1	G	A	14: 36,783,664 (GRCm39)	A331T	probably damaging	Het
Mmp1b	C	T	9: 7,386,346 (GRCm39)	V192I	possibly damaging	Het
Mrc1	C	T	2: 14,253,735 (GRCm39)	A252V	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,299,459 (GRCm39)	D1265G	probably benign	Het
Ndc1	T	C	4: 107,247,623 (GRCm39)	I477T	probably benign	Het
Neo1	A	G	9: 58,897,545 (GRCm39)	F137S	probably benign	Het
Nos2	A	G	11: 78,836,089 (GRCm39)	N384S	probably benign	Het
Nup133	T	C	8: 124,634,500 (GRCm39)	I1031V	probably damaging	Het
Nup98	A	G	7: 101,835,859 (GRCm39)	Y195H	probably damaging	Het
Obscn	C	T	11: 59,026,960 (GRCm39)	C81Y	probably damaging	Het
Or1j10	A	G	2: 36,267,402 (GRCm39)	I205V	probably benign	Het
Pfn2	T	C	3: 57,752,756 (GRCm39)	D55G	probably damaging	Het
Pif1	A	G	9: 65,499,499 (GRCm39)	K485R	probably damaging	Het
Polr1e	A	G	4: 45,018,727 (GRCm39)	E19G	probably damaging	Het
Prkdc	T	A	16: 15,491,624 (GRCm39)		probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Psd	T	C	19: 46,310,900 (GRCm39)	K383R	probably damaging	Het
Ptcd1	A	G	5: 145,091,944 (GRCm39)	L385P	probably damaging	Het
Ptpra	T	G	2: 130,386,969 (GRCm39)	I620S	probably damaging	Het
Rad54l2	T	A	9: 106,566,050 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,432,861 (GRCm39)	N262K	probably damaging	Het
Stat1	G	T	1: 52,187,042 (GRCm39)	V450F	probably benign	Het
Thada	G	A	17: 84,736,524 (GRCm39)	T919I	probably benign	Het
Thsd7a	A	T	6: 12,468,992 (GRCm39)	L529I	probably damaging	Het
Ttn	A	G	2: 76,748,863 (GRCm39)	V4062A	probably benign	Het
Usp9y	A	C	Y: 1,332,662 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,285,531 (GRCm39)	Y117C	possibly damaging	Het
Wdr33	A	T	18: 31,960,393 (GRCm39)	H19L	possibly damaging	Het
Wdr76	C	A	2: 121,372,899 (GRCm39)	H575Q	probably benign	Het
Xab2	A	G	8: 3,663,875 (GRCm39)	V348A	probably damaging	Het
Zfhx2	A	T	14: 55,310,207 (GRCm39)	Y780N	possibly damaging	Het
Zmynd12	T	C	4: 119,302,081 (GRCm39)		probably null	Het

Other mutations in Fbxl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Fbxl18	APN	5	142,871,580 (GRCm39)	missense	probably damaging	0.99
R1384:Fbxl18	UTSW	5	142,871,978 (GRCm39)	missense	probably damaging	0.96
R1725:Fbxl18	UTSW	5	142,872,458 (GRCm39)	missense	probably damaging	1.00
R1873:Fbxl18	UTSW	5	142,871,978 (GRCm39)	missense	probably damaging	0.96
R1874:Fbxl18	UTSW	5	142,871,978 (GRCm39)	missense	probably damaging	0.96
R1875:Fbxl18	UTSW	5	142,871,978 (GRCm39)	missense	probably damaging	0.96
R2011:Fbxl18	UTSW	5	142,858,214 (GRCm39)	missense	probably benign	0.00
R2186:Fbxl18	UTSW	5	142,864,516 (GRCm39)	missense	probably damaging	1.00
R4977:Fbxl18	UTSW	5	142,871,840 (GRCm39)	missense	probably damaging	1.00
R5011:Fbxl18	UTSW	5	142,872,435 (GRCm39)	missense	probably damaging	1.00
R5025:Fbxl18	UTSW	5	142,872,068 (GRCm39)	missense	probably damaging	0.98
R5567:Fbxl18	UTSW	5	142,881,022 (GRCm39)	unclassified	probably benign
R5570:Fbxl18	UTSW	5	142,881,022 (GRCm39)	unclassified	probably benign
R5654:Fbxl18	UTSW	5	142,871,558 (GRCm39)	missense	probably damaging	1.00
R5677:Fbxl18	UTSW	5	142,864,475 (GRCm39)	nonsense	probably null
R6010:Fbxl18	UTSW	5	142,858,153 (GRCm39)	missense	probably damaging	1.00
R6302:Fbxl18	UTSW	5	142,874,578 (GRCm39)	missense	probably damaging	1.00
R7699:Fbxl18	UTSW	5	142,871,504 (GRCm39)	missense	probably damaging	0.96
R8075:Fbxl18	UTSW	5	142,871,861 (GRCm39)	missense	probably damaging	1.00
R9267:Fbxl18	UTSW	5	142,880,870 (GRCm39)	missense	possibly damaging	0.60
X0023:Fbxl18	UTSW	5	142,872,126 (GRCm39)	missense	probably benign	0.00
X0060:Fbxl18	UTSW	5	142,871,326 (GRCm39)	missense	possibly damaging	0.50
Z1176:Fbxl18	UTSW	5	142,872,179 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AAGAGCAGGCATGTACACC -3'
(R):5'- CCGTGGATTTGGCAAGAAGG -3'

Sequencing Primer
(F):5'- GCAGGCATGTACACCACCTTC -3'
(R):5'- CATTGGGGTGCAGACCTGTC -3'

Posted On

2021-08-31