Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Fbxl4'

73078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxl4

Ensembl Gene

ENSMUSG00000040410

Gene Name

F-box and leucine-rich repeat protein 4

Synonyms

FBL5, FBL4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22427348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 530 (R530S)

Ref Sequence

ENSEMBL: ENSMUSP00000042219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039234] [ENSMUST00000184455] [ENSMUST00000184582] [ENSMUST00000185029]

AlphaFold

Q8BH70

Predicted Effect

probably benign
Transcript: ENSMUST00000039234
AA Change: R530S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: R530S

Domain	Start	End	E-Value	Type
FBOX	283	325	2.11e-3	SMART
Blast:LRR	344	372	1e-6	BLAST
LRR	400	425	1.95e-3	SMART
LRR	450	475	1.01e-1	SMART
LRR_CC	478	503	4.14e-7	SMART
LRR	504	524	1.16e2	SMART
LRR	532	557	3.69e1	SMART
LRR	558	583	8.71e0	SMART
LRR	584	609	1.64e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184455

Predicted Effect

probably benign
Transcript: ENSMUST00000184582
AA Change: R530S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: R530S

Domain	Start	End	E-Value	Type
FBOX	283	325	2.11e-3	SMART
Blast:LRR	344	372	1e-6	BLAST
LRR	400	425	1.95e-3	SMART
LRR	450	475	1.01e-1	SMART
LRR_CC	478	503	4.14e-7	SMART
LRR	504	524	1.16e2	SMART
LRR	532	557	3.69e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185029

SMART Domains

Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410

Domain	Start	End	E-Value	Type
FBOX	283	325	2.11e-3	SMART
Blast:LRR	344	372	1e-7	BLAST
Blast:LRR	400	425	2e-9	BLAST

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 the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Fbxl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Fbxl4	APN	4	22,422,766 (GRCm39)	missense	probably damaging	1.00
IGL02353:Fbxl4	APN	4	22,433,684 (GRCm39)	missense	probably benign	0.00
IGL02360:Fbxl4	APN	4	22,433,684 (GRCm39)	missense	probably benign	0.00
IGL02871:Fbxl4	APN	4	22,386,213 (GRCm39)	missense	probably benign
R0033:Fbxl4	UTSW	4	22,377,017 (GRCm39)	missense	probably damaging	1.00
R0379:Fbxl4	UTSW	4	22,386,106 (GRCm39)	missense	probably benign	0.01
R1053:Fbxl4	UTSW	4	22,427,166 (GRCm39)	missense	probably benign
R1527:Fbxl4	UTSW	4	22,386,154 (GRCm39)	missense	probably benign	0.00
R1768:Fbxl4	UTSW	4	22,385,950 (GRCm39)	missense	probably benign	0.00
R2148:Fbxl4	UTSW	4	22,427,333 (GRCm39)	missense	possibly damaging	0.65
R2196:Fbxl4	UTSW	4	22,403,624 (GRCm39)	missense	probably benign
R2850:Fbxl4	UTSW	4	22,403,624 (GRCm39)	missense	probably benign
R4024:Fbxl4	UTSW	4	22,377,074 (GRCm39)	missense	possibly damaging	0.83
R4425:Fbxl4	UTSW	4	22,422,699 (GRCm39)	splice site	probably null
R5227:Fbxl4	UTSW	4	22,376,840 (GRCm39)	missense	probably damaging	1.00
R5499:Fbxl4	UTSW	4	22,386,017 (GRCm39)	missense	probably damaging	1.00
R5595:Fbxl4	UTSW	4	22,433,641 (GRCm39)	missense	probably damaging	1.00
R5895:Fbxl4	UTSW	4	22,390,678 (GRCm39)	missense	probably damaging	1.00
R6475:Fbxl4	UTSW	4	22,433,661 (GRCm39)	missense	probably damaging	1.00
R6697:Fbxl4	UTSW	4	22,376,599 (GRCm39)	missense	probably benign	0.33
R6977:Fbxl4	UTSW	4	22,376,930 (GRCm39)	missense	probably benign	0.22
R7106:Fbxl4	UTSW	4	22,427,140 (GRCm39)	splice site	probably null
R7164:Fbxl4	UTSW	4	22,386,218 (GRCm39)	missense	probably benign	0.00
R7264:Fbxl4	UTSW	4	22,386,145 (GRCm39)	missense	possibly damaging	0.94
R7502:Fbxl4	UTSW	4	22,376,655 (GRCm39)	missense	probably benign
R7645:Fbxl4	UTSW	4	22,377,037 (GRCm39)	missense	probably damaging	1.00
R7666:Fbxl4	UTSW	4	22,376,869 (GRCm39)	missense	probably benign	0.07
R8152:Fbxl4	UTSW	4	22,427,225 (GRCm39)	missense	possibly damaging	0.77
R8445:Fbxl4	UTSW	4	22,385,983 (GRCm39)	missense	probably benign	0.07
R8693:Fbxl4	UTSW	4	22,403,704 (GRCm39)	missense	probably benign
R8856:Fbxl4	UTSW	4	22,390,803 (GRCm39)	missense	probably damaging	1.00
R9334:Fbxl4	UTSW	4	22,376,778 (GRCm39)	missense	probably damaging	0.99
Z1176:Fbxl4	UTSW	4	22,427,280 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07