Mutagenetix > Incidental Mutation

Incidental Mutation 'R8152:Fbxl4'

632998

Institutional Source

Beutler Lab

Gene Symbol

Fbxl4

Ensembl Gene

ENSMUSG00000040410

Gene Name

F-box and leucine-rich repeat protein 4

Synonyms

FBL5, FBL4

MMRRC Submission

067578-MU

Accession Numbers

Essential gene?

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

Stock #

R8152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22427225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 489 (C489G)

Ref Sequence

ENSEMBL: ENSMUSP00000042219 (fasta)

Gene Model

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

AlphaFold

Q8BH70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039234
AA Change: C489G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: C489G

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: C489G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: C489G

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

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 92.4%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,305 (GRCm39)	L195P	probably damaging	Het
Adgrb1	T	C	15: 74,413,460 (GRCm39)	V548A	probably benign	Het
Adgrb1	T	C	15: 74,416,849 (GRCm39)	I752T	probably damaging	Het
Adgrb3	T	C	1: 25,260,838 (GRCm39)		probably null	Het
Adh6a	G	T	3: 138,033,275 (GRCm39)		probably null	Het
Aldh18a1	A	G	19: 40,553,456 (GRCm39)	S431P	probably benign	Het
Arap3	T	C	18: 38,124,410 (GRCm39)	R310G	possibly damaging	Het
Atad5	T	C	11: 79,985,996 (GRCm39)	V361A	possibly damaging	Het
Atp8a1	C	A	5: 67,919,925 (GRCm39)	M380I		Het
Calcrl	C	T	2: 84,169,593 (GRCm39)	V363M	possibly damaging	Het
Camsap1	G	T	2: 25,830,253 (GRCm39)	D490E	probably damaging	Het
Cd72	T	A	4: 43,452,601 (GRCm39)	I131F	possibly damaging	Het
Cdh2	C	T	18: 16,762,576 (GRCm39)	G513D	probably benign	Het
Cela1	T	C	15: 100,580,822 (GRCm39)	T145A	probably benign	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfap99	C	T	5: 34,480,735 (GRCm39)	R462C	probably damaging	Het
Cmtm1	A	G	8: 105,036,573 (GRCm39)	S19P	possibly damaging	Het
Crebbp	A	T	16: 3,902,945 (GRCm39)	M2098K	possibly damaging	Het
Csmd3	T	C	15: 47,532,860 (GRCm39)		probably null	Het
Ctsm	C	G	13: 61,687,463 (GRCm39)	V100L	probably benign	Het
Cyp2c67	C	A	19: 39,628,452 (GRCm39)	C164F	probably benign	Het
Cyp2d11	T	C	15: 82,276,688 (GRCm39)	I84V	probably benign	Het
Cyp2j11	T	C	4: 96,195,529 (GRCm39)	D389G	probably damaging	Het
Dctd	A	G	8: 48,564,725 (GRCm39)	D9G	probably benign	Het
Fam221a	C	A	6: 49,355,490 (GRCm39)	F197L	probably damaging	Het
Fmn1	C	T	2: 113,196,037 (GRCm39)	T579M	unknown	Het
Fndc3a	G	A	14: 72,811,820 (GRCm39)	L337F	probably damaging	Het
Frmpd2	A	G	14: 33,265,244 (GRCm39)		probably null	Het
Gdnf	C	T	15: 7,864,243 (GRCm39)	S218L	probably damaging	Het
Gen1	A	G	12: 11,293,266 (GRCm39)	F444L	probably damaging	Het
Gk5	A	T	9: 96,056,756 (GRCm39)	D391V	probably damaging	Het
Gys2	T	C	6: 142,373,136 (GRCm39)	T612A	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Isx	T	C	8: 75,616,627 (GRCm39)	F85L	probably damaging	Het
Kcnh5	T	C	12: 74,944,633 (GRCm39)	D872G	possibly damaging	Het
Kif26b	T	G	1: 178,506,794 (GRCm39)	V290G	possibly damaging	Het
Ksr2	T	C	5: 117,809,523 (GRCm39)	C429R	probably damaging	Het
Loxhd1	A	C	18: 77,476,095 (GRCm39)	I1121L	possibly damaging	Het
Map2	T	C	1: 66,453,902 (GRCm39)	F931L	probably benign	Het
Mepce	T	C	5: 137,782,935 (GRCm39)	I464V	probably benign	Het
Mpo	G	T	11: 87,692,475 (GRCm39)	V538L	probably benign	Het
Mtarc2	T	A	1: 184,573,509 (GRCm39)	M130L	possibly damaging	Het
Mtrex	T	A	13: 113,009,517 (GRCm39)	K961*	probably null	Het
Myom1	T	C	17: 71,391,290 (GRCm39)	V933A	probably damaging	Het
Nckap1l	T	G	15: 103,386,957 (GRCm39)		probably null	Het
Ncmap	C	A	4: 135,104,375 (GRCm39)	M19I	possibly damaging	Het
Neb	T	A	2: 52,073,848 (GRCm39)	I5920F	probably benign	Het
Nnt	C	T	13: 119,511,212 (GRCm39)	V355I	probably benign	Het
Nr1i2	C	T	16: 38,073,326 (GRCm39)	G217S	probably damaging	Het
Nsd1	A	G	13: 55,458,180 (GRCm39)	R2098G	possibly damaging	Het
Parp4	A	G	14: 56,884,703 (GRCm39)	T1261A	probably benign	Het
Pcgf3	A	T	5: 108,635,723 (GRCm39)	N131I	probably benign	Het
Plcb2	C	T	2: 118,541,302 (GRCm39)	D1012N	probably benign	Het
Plcl2	T	C	17: 50,914,689 (GRCm39)	I566T	probably damaging	Het
Plekha1	G	A	7: 130,510,102 (GRCm39)	A283T	probably damaging	Het
Prag1	A	T	8: 36,567,079 (GRCm39)	M77L	possibly damaging	Het
Rhbdl2	A	T	4: 123,718,711 (GRCm39)	I222L	probably benign	Het
Rnh1	A	C	7: 140,740,617 (GRCm39)	V446G	probably damaging	Het
Sash1	C	T	10: 8,626,805 (GRCm39)	R193H	possibly damaging	Het
Sgf29	G	T	7: 126,271,826 (GRCm39)	V284L	possibly damaging	Het
Slc12a3	G	A	8: 95,057,012 (GRCm39)	G95D	probably benign	Het
Slc17a7	T	C	7: 44,819,714 (GRCm39)	V172A	probably damaging	Het
Spta1	T	C	1: 174,045,510 (GRCm39)	V1556A	probably benign	Het
Tex15	G	A	8: 34,062,921 (GRCm39)	E784K	possibly damaging	Het
Ttn	T	C	2: 76,673,132 (GRCm39)	E11224G	unknown	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zdbf2	C	T	1: 63,345,572 (GRCm39)	T1317I	possibly damaging	Het
Zfat	C	T	15: 67,973,355 (GRCm39)	A1147T	probably benign	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zhx3	T	G	2: 160,622,695 (GRCm39)	I491L	probably benign	Het
Zranb3	T	C	1: 127,882,732 (GRCm39)	D1061G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTGTCTCTTTGAAAGCAGC -3'
(R):5'- TGTCCAGTTGCTGTAATCTGGTAC -3'

Sequencing Primer
(F):5'- GTGTCTCTTTGAAAGCAGCAATAAG -3'
(R):5'- CTGGTACAATTAGATGCCAGTTC -3'

Posted On

2020-06-30