Mutagenetix > Incidental Mutation

Incidental Mutation 'R7381:Fbxl20'

572748

Institutional Source

Beutler Lab

Gene Symbol

Fbxl20

Ensembl Gene

ENSMUSG00000020883

Gene Name

F-box and leucine-rich repeat protein 20

Synonyms

Scrapper, Scr, 4632423N09Rik, Fbl2, 2610511F20Rik, C86145

MMRRC Submission

045463-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R7381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97973382-98041229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97981614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

Ref Sequence

ENSEMBL: ENSMUSP00000099432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103143] [ENSMUST00000147971]

AlphaFold

Q9CZV8

Predicted Effect

probably benign
Transcript: ENSMUST00000103143
AA Change: V358A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: V358A

Domain	Start	End	E-Value	Type
FBOX	28	68	2.62e-8	SMART
LRR	90	115	2.02e-1	SMART
LRR	116	141	1.77e1	SMART
LRR	142	167	7.9e-4	SMART
LRR_CC	168	193	4.61e-5	SMART
LRR	194	219	7.15e-2	SMART
LRR	220	245	1.67e-2	SMART
LRR	246	271	1.2e-3	SMART
LRR	272	297	2.61e-4	SMART
LRR	298	323	1.26e-2	SMART
LRR_CC	324	349	1.77e-6	SMART
LRR	353	377	6.06e2	SMART
LRR	378	403	2.14e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147971

SMART Domains

Protein: ENSMUSP00000123507
Gene: ENSMUSG00000020883

Domain	Start	End	E-Value	Type
LRR	14	39	7.15e-2	SMART
LRR	40	65	1.67e-2	SMART
LRR	66	91	1.2e-3	SMART

Coding Region Coverage

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

Validation Efficiency

98% (88/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,323,122 (GRCm39)	Y53H	probably damaging	Het
Abca8a	A	T	11: 109,920,913 (GRCm39)		probably null	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Acsm3	A	G	7: 119,380,049 (GRCm39)	D462G	probably damaging	Het
Adam39	T	A	8: 41,279,000 (GRCm39)	C464S	probably damaging	Het
Adgra3	A	G	5: 50,216,116 (GRCm39)	M1T	probably null	Het
AI182371	T	C	2: 34,975,371 (GRCm39)	Y276C	probably damaging	Het
Ank2	T	A	3: 126,730,277 (GRCm39)	H719L	possibly damaging	Het
Ano7	G	A	1: 93,323,057 (GRCm39)	V466I	probably benign	Het
Art5	A	G	7: 101,747,377 (GRCm39)	L134P	probably damaging	Het
Atcay	A	G	10: 81,046,431 (GRCm39)	Y298H	possibly damaging	Het
Atp1a4	A	T	1: 172,067,682 (GRCm39)	F527Y	possibly damaging	Het
Bpifb2	A	T	2: 153,734,268 (GRCm39)	M428L	probably benign	Het
Brinp2	A	C	1: 158,073,913 (GRCm39)	V736G	probably benign	Het
Cdc5l	C	T	17: 45,722,849 (GRCm39)	A437T	probably benign	Het
Cdx2	G	A	5: 147,243,440 (GRCm39)	P118L	possibly damaging	Het
Chpt1	G	A	10: 88,311,193 (GRCm39)		probably null	Het
Creb3l2	T	A	6: 37,312,783 (GRCm39)	E417V	probably damaging	Het
Csnk2a1	A	G	2: 152,100,614 (GRCm39)	T129A	probably benign	Het
Dennd6b	A	T	15: 89,070,376 (GRCm39)	L431Q	possibly damaging	Het
Dgkz	C	T	2: 91,775,180 (GRCm39)	A260T	probably benign	Het
Dhx34	T	A	7: 15,949,373 (GRCm39)	T352S	probably benign	Het
Elp4	C	T	2: 105,622,652 (GRCm39)	R349Q	not run	Het
Emsy	A	C	7: 98,240,010 (GRCm39)	F1228V	probably damaging	Het
Eps8l1	T	A	7: 4,473,437 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,719,134 (GRCm39)	D413E	probably damaging	Het
Fat3	T	C	9: 16,158,283 (GRCm39)	Y1109C	probably damaging	Het
Fbp1	T	C	13: 63,012,867 (GRCm39)	K314E	probably benign	Het
Fbxo34	C	G	14: 47,767,992 (GRCm39)	R502G	probably benign	Het
Fxr2	G	A	11: 69,532,875 (GRCm39)	C151Y	possibly damaging	Het
Garin5b	C	A	7: 4,760,681 (GRCm39)	R677L		Het
Gja8	T	C	3: 96,827,338 (GRCm39)	D108G	probably benign	Het
Gm10722	C	A	9: 3,001,235 (GRCm39)	L104I	probably benign	Het
Grsf1	A	G	5: 88,813,666 (GRCm39)	V361A	probably benign	Het
Gsap	T	A	5: 21,431,785 (GRCm39)	I228N	probably damaging	Het
Hagh	T	C	17: 25,075,686 (GRCm39)	I131T	probably damaging	Het
Heca	A	T	10: 17,791,272 (GRCm39)	Y261*	probably null	Het
Hipk3	A	G	2: 104,269,696 (GRCm39)	F498L	probably damaging	Het
Hps4	T	A	5: 112,523,324 (GRCm39)	I614N	possibly damaging	Het
Icam1	T	C	9: 20,938,886 (GRCm39)	S450P	probably benign	Het
Il22	G	A	10: 118,041,069 (GRCm39)	M58I	possibly damaging	Het
Khdrbs2	T	A	1: 32,372,883 (GRCm39)	S186T	not run	Het
Kif16b	A	G	2: 142,699,343 (GRCm39)	F79S	probably damaging	Het
Kntc1	C	A	5: 123,948,971 (GRCm39)	F1905L	probably benign	Het
Liat1	A	T	11: 75,893,833 (GRCm39)	D70V	probably damaging	Het
Lrp1b	C	T	2: 40,692,929 (GRCm39)	G3423D		Het
Lrp5	G	T	19: 3,643,588 (GRCm39)	Q1346K	probably benign	Het
Map3k21	A	C	8: 126,671,717 (GRCm39)	T1002P	possibly damaging	Het
Mdga2	G	T	12: 66,615,670 (GRCm39)	R646S	probably benign	Het
Mex3b	G	T	7: 82,518,073 (GRCm39)	M129I	possibly damaging	Het
Mfsd10	G	T	5: 34,793,770 (GRCm39)	N85K	probably damaging	Het
Mios	A	G	6: 8,216,064 (GRCm39)	D420G	probably damaging	Het
Mogs	C	A	6: 83,092,613 (GRCm39)	P18T	unknown	Het
Mrgpre	A	G	7: 143,335,150 (GRCm39)	C118R	probably damaging	Het
Muc4	A	T	16: 32,601,285 (GRCm39)	H1321L		Het
Nkapl	T	C	13: 21,651,759 (GRCm39)	K285E	probably damaging	Het
Nphp4	C	T	4: 152,583,460 (GRCm39)	P200S	possibly damaging	Het
Piezo1	A	G	8: 123,228,397 (GRCm39)	F297L		Het
Pkhd1	T	G	1: 20,271,197 (GRCm39)	S3119R	probably damaging	Het
Pla2g15	G	A	8: 106,889,576 (GRCm39)	V283I	probably benign	Het
Ppp1r13l	T	A	7: 19,102,786 (GRCm39)		probably null	Het
Prex1	A	G	2: 166,429,047 (GRCm39)	Y849H	probably damaging	Het
Psg27	C	A	7: 18,301,008 (GRCm39)	W15L	probably benign	Het
Ptar1	A	T	19: 23,686,334 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,135 (GRCm39)	R264C	probably damaging	Het
Ptprb	A	G	10: 116,177,038 (GRCm39)	I988V	probably benign	Het
Ptpro	G	A	6: 137,376,559 (GRCm39)	V680I	possibly damaging	Het
Rnf170	C	T	8: 26,613,876 (GRCm39)	P28S	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Rtel1	C	T	2: 180,972,608 (GRCm39)	R29*	probably null	Het
Rtkn	T	C	6: 83,128,726 (GRCm39)	L26P	probably damaging	Het
Sdk2	A	C	11: 113,729,315 (GRCm39)	S1087R	probably damaging	Het
Sema7a	C	T	9: 57,860,852 (GRCm39)	P71L	probably benign	Het
Sgpp1	C	T	12: 75,763,038 (GRCm39)	C381Y	probably damaging	Het
Sis	A	T	3: 72,820,625 (GRCm39)		probably null	Het
Slc24a5	A	C	2: 124,910,869 (GRCm39)	D100A	probably benign	Het
Slc25a23	A	T	17: 57,360,587 (GRCm39)	I251K	probably damaging	Het
Slc6a5	T	A	7: 49,579,804 (GRCm39)	L394H	probably damaging	Het
Slc7a4	A	T	16: 17,392,920 (GRCm39)	M293K	probably damaging	Het
Syne2	T	A	12: 75,973,263 (GRCm39)	S1089T	probably benign	Het
Tanc1	A	T	2: 59,615,670 (GRCm39)	T226S	probably damaging	Het
Tdrd6	T	C	17: 43,936,984 (GRCm39)	T1355A	probably benign	Het
Tmem101	A	G	11: 102,044,176 (GRCm39)	M237T	possibly damaging	Het
Ttn	G	A	2: 76,749,359 (GRCm39)	H3897Y	possibly damaging	Het
Tubb4a	C	T	17: 57,387,698 (GRCm39)	V443M	unknown	Het
Ucp2	G	A	7: 100,147,576 (GRCm39)	R185H	possibly damaging	Het
Vmn1r116	G	T	7: 20,606,436 (GRCm39)	E86*	probably null	Het
Vmn2r37	T	C	7: 9,213,032 (GRCm39)	E530G	probably benign	Het
Vwa8	A	G	14: 79,333,125 (GRCm39)	T1293A	probably benign	Het
Zfc3h1	T	A	10: 115,260,535 (GRCm39)	Y1711N	probably benign	Het
Zfp873	A	T	10: 81,896,805 (GRCm39)	E512V	probably damaging	Het
Zfyve16	T	A	13: 92,657,654 (GRCm39)	K752N	probably damaging	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het

Other mutations in Fbxl20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Fbxl20	APN	11	97,981,500 (GRCm39)	missense	possibly damaging	0.70
IGL00161:Fbxl20	APN	11	97,981,500 (GRCm39)	missense	possibly damaging	0.70
IGL00590:Fbxl20	APN	11	97,983,955 (GRCm39)	missense	probably damaging	1.00
IGL00944:Fbxl20	APN	11	98,004,068 (GRCm39)	missense	probably damaging	1.00
IGL00966:Fbxl20	APN	11	98,001,800 (GRCm39)	missense	probably damaging	1.00
IGL01344:Fbxl20	APN	11	97,990,926 (GRCm39)	nonsense	probably null
IGL02394:Fbxl20	APN	11	98,004,082 (GRCm39)	missense	probably damaging	1.00
R0270:Fbxl20	UTSW	11	97,989,329 (GRCm39)	splice site	probably benign
R1564:Fbxl20	UTSW	11	97,989,312 (GRCm39)	missense	probably damaging	1.00
R2227:Fbxl20	UTSW	11	97,981,675 (GRCm39)	missense	probably benign	0.12
R3902:Fbxl20	UTSW	11	97,987,861 (GRCm39)	missense	probably benign	0.03
R4158:Fbxl20	UTSW	11	97,986,220 (GRCm39)	unclassified	probably benign
R4516:Fbxl20	UTSW	11	97,986,061 (GRCm39)	unclassified	probably benign
R4916:Fbxl20	UTSW	11	98,019,186 (GRCm39)	missense	probably damaging	1.00
R5905:Fbxl20	UTSW	11	98,006,271 (GRCm39)	missense	probably damaging	1.00
R6791:Fbxl20	UTSW	11	98,000,336 (GRCm39)	missense	probably benign	0.05
R6916:Fbxl20	UTSW	11	98,004,079 (GRCm39)	missense	possibly damaging	0.78
R7536:Fbxl20	UTSW	11	97,986,209 (GRCm39)	nonsense	probably null
X0067:Fbxl20	UTSW	11	97,987,804 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CCCTGAGGTTTGCTTGCTAAC -3'
(R):5'- ATCGCCTGCATTGGGATTTGAC -3'

Sequencing Primer
(F):5'- GAGGTTTGCTTGCTAACTATCCAAG -3'
(R):5'- CGCCTGCATTGGGATTTGACATAAG -3'

Posted On

2019-09-13