Mutagenetix > Incidental Mutation

Incidental Mutation 'R6874:Fbxl7'

536334

Institutional Source

Beutler Lab

Gene Symbol

Fbxl7

Ensembl Gene

ENSMUSG00000043556

Gene Name

F-box and leucine-rich repeat protein 7

Synonyms

FBL7, Fbl6, D230018M15Rik

MMRRC Submission

045029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6874 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26540540-26895650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26553028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 80 (I80V)

Ref Sequence

ENSEMBL: ENSMUSP00000061305 (fasta)

Gene Model

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

AlphaFold

Q5BJ29

Predicted Effect

probably benign
Transcript: ENSMUST00000059204
AA Change: I80V

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

SMART Domains

Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: I80V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,428 (GRCm39)	D802G	possibly damaging	Het
Acsl5	A	G	19: 55,280,295 (GRCm39)	T523A	probably damaging	Het
Adamts7	A	T	9: 90,070,784 (GRCm39)	D635V	probably damaging	Het
Akr1c12	C	A	13: 4,322,959 (GRCm39)	G217C	probably benign	Het
Astn1	C	A	1: 158,491,644 (GRCm39)	S1007*	probably null	Het
Cntln	T	C	4: 84,985,996 (GRCm39)	L988P	probably damaging	Het
Dcps	A	T	9: 35,087,263 (GRCm39)	M1K	probably null	Het
Dnai1	T	A	4: 41,632,412 (GRCm39)	L582Q	probably damaging	Het
Dst	A	T	1: 34,328,732 (GRCm39)	Q7118L	probably benign	Het
Ehd2	T	A	7: 15,684,363 (GRCm39)	T479S	probably benign	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Gm12695	A	T	4: 96,673,306 (GRCm39)	I31K	probably benign	Het
Gm5591	T	C	7: 38,219,715 (GRCm39)	E386G	probably damaging	Het
Helz	G	T	11: 107,554,460 (GRCm39)	R1219S	probably damaging	Het
Hes3	G	T	4: 152,371,695 (GRCm39)	P85T	possibly damaging	Het
Igkv3-2	A	T	6: 70,675,822 (GRCm39)	R44*	probably null	Het
Igsf9	A	G	1: 172,322,096 (GRCm39)	T496A	probably benign	Het
Irf2bp1	G	T	7: 18,739,142 (GRCm39)	A261S	possibly damaging	Het
Jph2	G	A	2: 163,181,407 (GRCm39)	P586S	probably benign	Het
Klhl11	T	C	11: 100,363,031 (GRCm39)	H175R	probably benign	Het
Ksr2	G	T	5: 117,894,401 (GRCm39)	E847*	probably null	Het
Lats1	T	A	10: 7,586,615 (GRCm39)	Y926N	probably damaging	Het
Lmbr1	A	T	5: 29,497,904 (GRCm39)	L33H	probably damaging	Het
Lrp10	T	C	14: 54,705,670 (GRCm39)	S287P	possibly damaging	Het
Map3k6	G	A	4: 132,977,967 (GRCm39)	E976K	probably benign	Het
Mfsd6	T	A	1: 52,699,868 (GRCm39)	D760V	probably benign	Het
Muc16	G	T	9: 18,570,065 (GRCm39)	S818*	probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nagpa	T	C	16: 5,013,921 (GRCm39)	T306A	probably benign	Het
Nisch	G	T	14: 30,898,641 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,298,964 (GRCm39)	V1028A	probably damaging	Het
Nucb1	T	C	7: 45,152,618 (GRCm39)	N75S	probably benign	Het
Or11a4	T	C	17: 37,536,238 (GRCm39)	V74A	probably benign	Het
Or1e1d-ps1	T	G	11: 73,819,068 (GRCm39)	M6R	probably null	Het
Or51a43	T	A	7: 103,717,396 (GRCm39)	I281F	possibly damaging	Het
Or5h23	T	A	16: 58,906,312 (GRCm39)	Y178F	probably benign	Het
Or7g19	T	A	9: 18,856,777 (GRCm39)	Y278N	possibly damaging	Het
Or8b57	A	G	9: 40,004,022 (GRCm39)	V80A	probably benign	Het
Or8k24	C	T	2: 86,215,872 (GRCm39)	V297I	possibly damaging	Het
Pik3c2a	A	G	7: 115,993,540 (GRCm39)	L409S	probably damaging	Het
Pkhd1l1	T	A	15: 44,452,923 (GRCm39)	D3949E	probably benign	Het
Prune2	C	A	19: 17,100,592 (GRCm39)	P2032Q	probably damaging	Het
Ptms	T	C	6: 124,891,194 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,595,259 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,554,460 (GRCm39)	I88M	possibly damaging	Het
Radil	T	A	5: 142,492,557 (GRCm39)	D357V	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Supt20	A	G	3: 54,635,175 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,851,261 (GRCm39)	I69T	probably damaging	Het
Trib2	G	C	12: 15,865,338 (GRCm39)	S79W	probably damaging	Het
Trpc6	A	G	9: 8,680,439 (GRCm39)	D889G	probably damaging	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Vax1	A	T	19: 59,156,955 (GRCm39)	V126E	unknown	Het
Vgf	A	G	5: 137,060,386 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,012,376 (GRCm39)	C746S	probably damaging	Het
Vmn2r77	A	G	7: 86,451,286 (GRCm39)	T391A	probably benign	Het
Zfp738	C	A	13: 67,818,382 (GRCm39)	E536D	possibly damaging	Het

Other mutations in Fbxl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Fbxl7	APN	15	26,789,649 (GRCm39)	missense	probably damaging	0.98
R0482:Fbxl7	UTSW	15	26,543,632 (GRCm39)	missense	probably benign	0.06
R1734:Fbxl7	UTSW	15	26,543,735 (GRCm39)	missense	probably damaging	1.00
R1826:Fbxl7	UTSW	15	26,552,851 (GRCm39)	missense	possibly damaging	0.59
R1859:Fbxl7	UTSW	15	26,543,279 (GRCm39)	missense	probably damaging	1.00
R2410:Fbxl7	UTSW	15	26,895,111 (GRCm39)	missense	possibly damaging	0.79
R3703:Fbxl7	UTSW	15	26,543,841 (GRCm39)	missense	probably damaging	1.00
R3704:Fbxl7	UTSW	15	26,543,841 (GRCm39)	missense	probably damaging	1.00
R4025:Fbxl7	UTSW	15	26,552,905 (GRCm39)	missense	probably benign	0.20
R4387:Fbxl7	UTSW	15	26,543,345 (GRCm39)	missense	probably damaging	1.00
R5055:Fbxl7	UTSW	15	26,553,022 (GRCm39)	missense	probably damaging	0.98
R5070:Fbxl7	UTSW	15	26,789,640 (GRCm39)	missense	probably benign	0.15
R5180:Fbxl7	UTSW	15	26,543,507 (GRCm39)	missense	probably damaging	1.00
R5260:Fbxl7	UTSW	15	26,543,585 (GRCm39)	missense	probably damaging	1.00
R5720:Fbxl7	UTSW	15	26,552,979 (GRCm39)	missense	probably damaging	0.98
R6256:Fbxl7	UTSW	15	26,553,088 (GRCm39)	missense	probably benign	0.16
R7143:Fbxl7	UTSW	15	26,543,244 (GRCm39)	missense	probably benign
R7941:Fbxl7	UTSW	15	26,543,699 (GRCm39)	missense	probably damaging	1.00
R8848:Fbxl7	UTSW	15	26,552,902 (GRCm39)	missense	probably benign
R9211:Fbxl7	UTSW	15	26,789,616 (GRCm39)	missense	probably damaging	0.99
R9402:Fbxl7	UTSW	15	26,552,589 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACACGTGCACAGCGACATAG -3'
(R):5'- CATGCTGCTTATGCTCTGAAGG -3'

Sequencing Primer
(F):5'- ACATAGCTGGTTGGTGGGCAG -3'
(R):5'- GGCCATCAGGGAGTGTTAC -3'

Posted On

2018-10-18