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

045331-MU

Accession Numbers

Essential gene?

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

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22357543-22434091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22386218 bp (GRCm39)

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
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Ajm1	T	A	2: 25,468,579 (GRCm39)	H444L	possibly damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Espl1	T	C	15: 102,221,638 (GRCm39)	W976R	probably damaging	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,297,995 (GRCm39)	D202V	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or1j21	T	C	2: 36,683,709 (GRCm39)	S154P	probably benign	Het
Or5ae2	A	G	7: 84,506,251 (GRCm39)	I227V	possibly damaging	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly 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
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

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