Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Fbxl6'

307248

Institutional Source

Beutler Lab

Gene Symbol

Fbxl6

Ensembl Gene

ENSMUSG00000022559

Gene Name

F-box and leucine-rich repeat protein 6

Synonyms

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R3937 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

76419923-76422946 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 76420824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 384 (R384*)

Ref Sequence

ENSEMBL: ENSMUSP00000023219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023219] [ENSMUST00000023220] [ENSMUST00000230604]

AlphaFold

Q9QXW0

Predicted Effect

probably null
Transcript: ENSMUST00000023219
AA Change: R384*

SMART Domains

Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559
AA Change: R384*

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	58	77	N/A	INTRINSIC
Pfam:F-box	104	154	3.1e-6	PFAM
Pfam:F-box-like	105	155	1.8e-13	PFAM
low complexity region	163	174	N/A	INTRINSIC
SCOP:d1yrga_	184	448	3e-9	SMART
Blast:LRR	211	236	2e-6	BLAST
Blast:LRR	347	373	6e-8	BLAST
Blast:LRR	375	405	7e-9	BLAST
Blast:LRR	432	456	7e-6	BLAST
Blast:LRR	464	488	1e-5	BLAST
Blast:LRR	489	520	7e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000023220

SMART Domains

Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC
Pfam:DUF1011	278	376	3e-38	PFAM
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230938

Predicted Effect

probably benign
Transcript: ENSMUST00000230604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230994

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably damaging	Het

Other mutations in Fbxl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Fbxl6	APN	15	76,420,106 (GRCm39)	nonsense	probably null
IGL02205:Fbxl6	APN	15	76,421,541 (GRCm39)	missense	probably benign	0.05
R0244:Fbxl6	UTSW	15	76,421,391 (GRCm39)	missense	probably damaging	1.00
R0449:Fbxl6	UTSW	15	76,420,155 (GRCm39)	missense	probably damaging	1.00
R0608:Fbxl6	UTSW	15	76,420,953 (GRCm39)	missense	probably benign	0.04
R0904:Fbxl6	UTSW	15	76,421,283 (GRCm39)	splice site	probably null
R1477:Fbxl6	UTSW	15	76,421,934 (GRCm39)	missense	probably benign
R1784:Fbxl6	UTSW	15	76,422,258 (GRCm39)	missense	probably damaging	1.00
R2109:Fbxl6	UTSW	15	76,421,173 (GRCm39)	missense	probably damaging	0.99
R4414:Fbxl6	UTSW	15	76,421,924 (GRCm39)	missense	possibly damaging	0.76
R4416:Fbxl6	UTSW	15	76,421,924 (GRCm39)	missense	possibly damaging	0.76
R4483:Fbxl6	UTSW	15	76,422,129 (GRCm39)	missense	probably damaging	1.00
R4835:Fbxl6	UTSW	15	76,421,004 (GRCm39)	missense	probably damaging	1.00
R6175:Fbxl6	UTSW	15	76,422,633 (GRCm39)	missense	probably benign
R6345:Fbxl6	UTSW	15	76,420,054 (GRCm39)	missense	probably damaging	1.00
R6750:Fbxl6	UTSW	15	76,422,612 (GRCm39)	missense	probably damaging	1.00
R6800:Fbxl6	UTSW	15	76,422,898 (GRCm39)	unclassified	probably benign
R7485:Fbxl6	UTSW	15	76,422,113 (GRCm39)	splice site	probably null
R7560:Fbxl6	UTSW	15	76,422,669 (GRCm39)	missense	probably benign	0.06
R7726:Fbxl6	UTSW	15	76,420,086 (GRCm39)	missense	probably damaging	1.00
R7811:Fbxl6	UTSW	15	76,421,485 (GRCm39)	splice site	probably null
R8353:Fbxl6	UTSW	15	76,422,678 (GRCm39)	missense	probably benign	0.06
R8548:Fbxl6	UTSW	15	76,421,542 (GRCm39)	missense	possibly damaging	0.65
X0058:Fbxl6	UTSW	15	76,422,676 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATACCACTTCCGGGTCAACAG -3'
(R):5'- GCTGAATCTGATTTGGCTTCCC -3'

Sequencing Primer
(F):5'- GGGTCAAGCCATCAGATATGCC -3'
(R):5'- CTTCCCAAGCCGTGTGG -3'

Posted On

2015-04-17