Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Fbxl7'

506139

Institutional Source

Beutler Lab

Gene Symbol

Fbxl7

Ensembl Gene

ENSMUSG00000043556

Gene Name

F-box and leucine-rich repeat protein 7

Synonyms

D230018M15Rik, Fbl6, FBL7

MMRRC Submission

044373-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26540459-26895580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26553002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 60 (C60S)

Ref Sequence

ENSEMBL: ENSMUSP00000061305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059204]

AlphaFold

Q5BJ29

Predicted Effect

probably benign
Transcript: ENSMUST00000059204
AA Change: C60S

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: C60S

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	73	79	N/A	INTRINSIC
FBOX	117	157	2.7e-11	SMART
LRR_CC	185	210	2e-7	SMART
LRR_CC	211	236	2.1e-7	SMART
LRR	237	262	6.3e-7	SMART
LRR	271	296	3.5e-1	SMART
LRR_CC	297	322	1.7e-8	SMART
LRR_CC	323	348	5.5e-8	SMART
LRR_CC	349	374	6.5e-8	SMART
LRR_CC	375	400	9.1e-10	SMART
LRR_CC	401	426	2.1e-8	SMART
LRR_CC	427	452	1.8e-7	SMART
Blast:LRR	453	477	2e-7	BLAST

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

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 is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Fbxl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Fbxl7	APN	15	26789563	missense	probably damaging	0.98
R0482:Fbxl7	UTSW	15	26543546	missense	probably benign	0.06
R1734:Fbxl7	UTSW	15	26543649	missense	probably damaging	1.00
R1826:Fbxl7	UTSW	15	26552765	missense	possibly damaging	0.59
R1859:Fbxl7	UTSW	15	26543193	missense	probably damaging	1.00
R2410:Fbxl7	UTSW	15	26895025	missense	possibly damaging	0.79
R3703:Fbxl7	UTSW	15	26543755	missense	probably damaging	1.00
R3704:Fbxl7	UTSW	15	26543755	missense	probably damaging	1.00
R4025:Fbxl7	UTSW	15	26552819	missense	probably benign	0.20
R4387:Fbxl7	UTSW	15	26543259	missense	probably damaging	1.00
R5055:Fbxl7	UTSW	15	26552936	missense	probably damaging	0.98
R5070:Fbxl7	UTSW	15	26789554	missense	probably benign	0.15
R5180:Fbxl7	UTSW	15	26543421	missense	probably damaging	1.00
R5260:Fbxl7	UTSW	15	26543499	missense	probably damaging	1.00
R5720:Fbxl7	UTSW	15	26552893	missense	probably damaging	0.98
R6874:Fbxl7	UTSW	15	26552942	missense	probably benign
R7143:Fbxl7	UTSW	15	26543158	missense	probably benign
R7941:Fbxl7	UTSW	15	26543613	missense	probably damaging	1.00
R8848:Fbxl7	UTSW	15	26552816	missense	probably benign
R9211:Fbxl7	UTSW	15	26789530	missense	probably damaging	0.99
R9402:Fbxl7	UTSW	15	26552503	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAGATCTGCACCATGGAGTG -3'
(R):5'- CCACTGTGAGAAGCTTCACAG -3'

Sequencing Primer
(F):5'- GGTCCGGGAGCCTGTCTATG -3'
(R):5'- CATGCTGCTTATGCTCTGAAG -3'

Posted On

2018-02-28