Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Fbxl4'

590470

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22377037 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 158 (S158P)

Ref Sequence

ENSEMBL: ENSMUSP00000042219 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039234
AA Change: S158P

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

SMART Domains

Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: S158P

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 damaging
Transcript: ENSMUST00000184455
AA Change: S158P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184582
AA Change: S158P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: S158P

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: S158P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: S158P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Fbxl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Fbxl4	APN	4	22427348	missense	probably benign	0.01
IGL01973:Fbxl4	APN	4	22422766	missense	probably damaging	1.00
IGL02353:Fbxl4	APN	4	22433684	missense	probably benign	0.00
IGL02360:Fbxl4	APN	4	22433684	missense	probably benign	0.00
IGL02871:Fbxl4	APN	4	22386213	missense	probably benign
R0033:Fbxl4	UTSW	4	22377017	missense	probably damaging	1.00
R0379:Fbxl4	UTSW	4	22386106	missense	probably benign	0.01
R1053:Fbxl4	UTSW	4	22427166	missense	probably benign
R1527:Fbxl4	UTSW	4	22386154	missense	probably benign	0.00
R1768:Fbxl4	UTSW	4	22385950	missense	probably benign	0.00
R2148:Fbxl4	UTSW	4	22427333	missense	possibly damaging	0.65
R2196:Fbxl4	UTSW	4	22403624	missense	probably benign
R2850:Fbxl4	UTSW	4	22403624	missense	probably benign
R4024:Fbxl4	UTSW	4	22377074	missense	possibly damaging	0.83
R4425:Fbxl4	UTSW	4	22422699	splice site	probably null
R5227:Fbxl4	UTSW	4	22376840	missense	probably damaging	1.00
R5499:Fbxl4	UTSW	4	22386017	missense	probably damaging	1.00
R5595:Fbxl4	UTSW	4	22433641	missense	probably damaging	1.00
R5895:Fbxl4	UTSW	4	22390678	missense	probably damaging	1.00
R6475:Fbxl4	UTSW	4	22433661	missense	probably damaging	1.00
R6697:Fbxl4	UTSW	4	22376599	missense	probably benign	0.33
R6977:Fbxl4	UTSW	4	22376930	missense	probably benign	0.22
R7106:Fbxl4	UTSW	4	22427140	splice site	probably null
R7164:Fbxl4	UTSW	4	22386218	missense	probably benign	0.00
R7264:Fbxl4	UTSW	4	22386145	missense	possibly damaging	0.94
R7502:Fbxl4	UTSW	4	22376655	missense	probably benign
R7666:Fbxl4	UTSW	4	22376869	missense	probably benign	0.07
R8152:Fbxl4	UTSW	4	22427225	missense	possibly damaging	0.77
R8445:Fbxl4	UTSW	4	22385983	missense	not run
Z1176:Fbxl4	UTSW	4	22427280	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTCTTCCCAAGTTCTGGTG -3'
(R):5'- GTGACTTAAGAGGATGCTGCC -3'

Sequencing Primer
(F):5'- AGTTCTGGTGACTTCACGCAGAC -3'
(R):5'- CTTAAGAGGATGCTGCCAAAAAG -3'

Posted On

2019-10-24