Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Fbxl4'

557785

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

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22386218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 275 (P275L)

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: P275L

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

SMART Domains

Protein: ENSMUSP00000042219
Gene: ENSMUSG00000040410
AA Change: P275L

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
AA Change: P275L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000184582
AA Change: P275L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139158
Gene: ENSMUSG00000040410
AA Change: P275L

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
AA Change: P275L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138825
Gene: ENSMUSG00000040410
AA Change: P275L

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

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	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
R7264:Fbxl4	UTSW	4	22386145	missense	possibly damaging	0.94
R7502:Fbxl4	UTSW	4	22376655	missense	probably benign
R7645:Fbxl4	UTSW	4	22377037	missense	probably damaging	1.00
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	probably benign	0.07
R8693:Fbxl4	UTSW	4	22403704	missense	probably benign
R8856:Fbxl4	UTSW	4	22390803	missense	probably damaging	1.00
R9334:Fbxl4	UTSW	4	22376778	missense	probably damaging	0.99
Z1176:Fbxl4	UTSW	4	22427280	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCGAACTAGATGCAGTTG -3'
(R):5'- CATTTGATGTCTGGAGCTAGGAAG -3'

Sequencing Primer
(F):5'- CAGTTGTGCTGCATGGTACGAAG -3'
(R):5'- GGGCTCCCTAAGAAGACAGAC -3'

Posted On

2019-06-26