Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Fbxl4'

182596

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 #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22422766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 456 (L456R)

Ref Sequence

ENSEMBL: ENSMUSP00000138825 (fasta)

Gene Model

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

AlphaFold

Q8BH70

Predicted Effect

probably damaging
Transcript: ENSMUST00000039234
AA Change: L456R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: L456R

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 damaging
Transcript: ENSMUST00000184582
AA Change: L456R

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

SMART Domains

Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: L456R

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 damaging
Transcript: ENSMUST00000185029
AA Change: L456R

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

SMART Domains

Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: L456R

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Galnt3	T	C	2: 65,914,606 (GRCm39)	M604V	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Maneal	T	C	4: 124,752,948 (GRCm39)	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Ntsr2	T	A	12: 16,706,775 (GRCm39)	W268R	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Rnf215	A	T	11: 4,086,615 (GRCm39)	H164L	probably damaging	Het
Slc24a3	T	C	2: 145,086,947 (GRCm39)	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Fbxl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Fbxl4	APN	4	22,427,348 (GRCm39)	missense	probably benign	0.01
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

2014-05-07