Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Fbxl18'

210928

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

039895-MU

Accession Numbers

Essential gene?

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

Stock #

R1873 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

142852701-142881176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142871978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 419 (A419V)

Ref Sequence

ENSEMBL: ENSMUSP00000106394 (fasta)

Gene Model

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

AlphaFold

E9PYR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035985
AA Change: A355V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: A355V

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: A419V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: A419V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156725

Meta Mutation Damage Score

0.2167

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (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
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
R8952:Fbxl18	UTSW	5	142,871,502 (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'- TTGCCAAATCCACGGGGTAC -3'
(R):5'- AAACTTGCTGGACTCCATGG -3'

Sequencing Primer
(F):5'- AAATCCACGGGGTACTGCGTG -3'
(R):5'- AAGTCCTGGCTCAATGGCTC -3'

Posted On

2014-06-30