Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02205:Fbxl6'

284445

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: 0.112) question?

Stock #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

76535721-76538746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76537341 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 232 (M232T)

Ref Sequence

ENSEMBL: ENSMUSP00000023219 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023219
AA Change: M232T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: M232T

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,835,156	L150R	probably damaging	Het
Ankrd27	T	G	7: 35,616,939	D543E	probably damaging	Het
Anks1b	T	G	10: 90,071,094	L258V	probably benign	Het
Cacna1i	T	C	15: 80,372,951	F1087S	probably benign	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Cmip	G	A	8: 117,454,975	V674I	probably damaging	Het
Col4a2	C	T	8: 11,431,305	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,393,834	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,349,358	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,352,257	Y560C	probably damaging	Het
Gm5414	A	G	15: 101,625,869	F267L	probably benign	Het
Heatr5a	A	G	12: 51,877,337	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,400,127	V2324G	probably damaging	Het
Hnmt	A	T	2: 24,019,145	N85K	probably damaging	Het
Kcng4	G	T	8: 119,626,083	R363S	probably damaging	Het
Kif18a	T	C	2: 109,307,018		probably benign	Het
Lrrc8b	A	T	5: 105,481,837	Y683F	probably benign	Het
Mepce	G	T	5: 137,784,495	T523K	probably benign	Het
Mroh1	T	C	15: 76,437,239	V1040A	possibly damaging	Het
Myof	A	G	19: 37,924,635	Y1470H	probably damaging	Het
Olfr469	A	G	7: 107,822,591	Y293H	probably damaging	Het
Otol1	T	C	3: 70,018,596	S35P	probably benign	Het
P4htm	T	C	9: 108,581,962	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,473,957	T81A	probably damaging	Het
Polg2	T	C	11: 106,779,120	E108G	probably benign	Het
Rfx7	T	A	9: 72,607,650	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,283,737	V611A	probably benign	Het
Slc10a7	G	T	8: 78,697,303	K203N	probably benign	Het
Slc12a5	T	A	2: 164,996,479	V1046D	probably benign	Het
Tacc2	A	T	7: 130,626,682	D1718V	probably damaging	Het
Unc79	T	A	12: 103,079,001	I812N	probably damaging	Het
Vps13c	A	G	9: 67,883,454	Y338C	probably damaging	Het
Wdr17	T	C	8: 54,696,300	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,785,966	N624K	probably damaging	Het

Other mutations in Fbxl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Fbxl6	APN	15	76535906	nonsense	probably null
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
X0058:Fbxl6	UTSW	15	76538476	missense	possibly damaging	0.71

Posted On

2015-04-16