Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02088:Fbxl6'

279329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxl6

Ensembl Gene

ENSMUSG00000022559

Gene Name

F-box and leucine-rich repeat protein 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

76535721-76538746 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 76535906 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 502 (C502*)

Ref Sequence

ENSEMBL: ENSMUSP00000023219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023219] [ENSMUST00000023220] [ENSMUST00000230604]

Predicted Effect

probably null
Transcript: ENSMUST00000023219
AA Change: C502*

SMART Domains

Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: C502*

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	58	77	N/A	INTRINSIC
Pfam:F-box	104	154	3.1e-6	PFAM
Pfam:F-box-like	105	155	1.8e-13	PFAM
low complexity region	163	174	N/A	INTRINSIC
SCOP:d1yrga_	184	448	3e-9	SMART
Blast:LRR	211	236	2e-6	BLAST
Blast:LRR	347	373	6e-8	BLAST
Blast:LRR	375	405	7e-9	BLAST
Blast:LRR	432	456	7e-6	BLAST
Blast:LRR	464	488	1e-5	BLAST
Blast:LRR	489	520	7e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000023220

SMART Domains

Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC
Pfam:DUF1011	278	376	3e-38	PFAM
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230513

Predicted Effect

probably benign
Transcript: ENSMUST00000230604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230994

Coding Region Coverage

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 a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 104,098,881	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,580,590		probably benign	Het
Ampd3	T	A	7: 110,793,686	D220E	probably benign	Het
Ank3	T	C	10: 69,999,373	V136A	probably damaging	Het
Atg14	T	C	14: 47,542,859	K486R	probably benign	Het
Axin1	A	G	17: 26,188,695	I637V	probably benign	Het
Axin2	T	A	11: 108,923,616	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,339	K214*	probably null	Het
Cfap44	A	C	16: 44,451,628	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,251,009		probably benign	Het
Cyp2c68	A	G	19: 39,703,521		probably benign	Het
Dnah5	G	T	15: 28,459,118		probably null	Het
Dok3	A	T	13: 55,524,370	V165E	probably damaging	Het
Etl4	A	T	2: 20,806,548	R1147S	probably damaging	Het
Fam212a	A	G	9: 107,984,457	F220S	probably damaging	Het
Gp2	A	T	7: 119,454,469	Y90N	probably damaging	Het
H1fnt	G	T	15: 98,257,178	T30K	probably damaging	Het
Itfg2	A	G	6: 128,411,606	V306A	probably benign	Het
Lrig2	T	C	3: 104,467,108	Y219C	probably damaging	Het
Mccc1	A	T	3: 35,974,202	I485N	probably damaging	Het
Mettl25	A	G	10: 105,823,250	F391L	probably damaging	Het
Muc19	C	T	15: 91,891,168		noncoding transcript	Het
Muc2	T	C	7: 141,751,504	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453		noncoding transcript	Het
Nms	A	G	1: 38,939,277		probably benign	Het
Nr3c1	T	C	18: 39,424,391	N503S	probably damaging	Het
Olfr1495	T	C	19: 13,768,666	F108S	probably damaging	Het
Olfr186	A	G	16: 59,027,052	L285P	probably damaging	Het
Olfr828	C	T	9: 18,815,923	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,321,959	S464N	probably benign	Het
Pcgf6	T	C	19: 47,050,804	T6A	unknown	Het
Rdx	A	G	9: 52,060,883		probably benign	Het
Shmt1	T	C	11: 60,789,653	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,211,325	F148L	probably benign	Het
Tk1	A	G	11: 117,824,665		probably benign	Het
Tnks	T	A	8: 34,839,994	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,726,691	V29990A	probably damaging	Het
Zcchc11	A	G	4: 108,512,218		probably benign	Het

Other mutations in Fbxl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02205:Fbxl6	APN	15	76537341	missense	probably benign	0.05
R0244:Fbxl6	UTSW	15	76537191	missense	probably damaging	1.00
R0449:Fbxl6	UTSW	15	76535955	missense	probably damaging	1.00
R0608:Fbxl6	UTSW	15	76536753	missense	probably benign	0.04
R0904:Fbxl6	UTSW	15	76537083	splice site	probably null
R1477:Fbxl6	UTSW	15	76537734	missense	probably benign
R1784:Fbxl6	UTSW	15	76538058	missense	probably damaging	1.00
R2109:Fbxl6	UTSW	15	76536973	missense	probably damaging	0.99
R3937:Fbxl6	UTSW	15	76536624	nonsense	probably null
R4414:Fbxl6	UTSW	15	76537724	missense	possibly damaging	0.76
R4416:Fbxl6	UTSW	15	76537724	missense	possibly damaging	0.76
R4483:Fbxl6	UTSW	15	76537929	missense	probably damaging	1.00
R4835:Fbxl6	UTSW	15	76536804	missense	probably damaging	1.00
R6175:Fbxl6	UTSW	15	76538433	missense	probably benign
R6345:Fbxl6	UTSW	15	76535854	missense	probably damaging	1.00
R6750:Fbxl6	UTSW	15	76538412	missense	probably damaging	1.00
R6800:Fbxl6	UTSW	15	76538698	unclassified	probably benign
R7485:Fbxl6	UTSW	15	76537913	splice site	probably null
R7560:Fbxl6	UTSW	15	76538469	missense	probably benign	0.06
R7726:Fbxl6	UTSW	15	76535886	missense	probably damaging	1.00
R7811:Fbxl6	UTSW	15	76537285	splice site	probably null
R8353:Fbxl6	UTSW	15	76538478	missense	probably benign	0.06
R8548:Fbxl6	UTSW	15	76537342	missense	possibly damaging	0.65
X0058:Fbxl6	UTSW	15	76538476	missense	possibly damaging	0.71

Posted On

2015-04-16