Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Fbxl20'

532606

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

044904-MU

Accession Numbers

Essential gene?

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

Stock #

R6791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97973382-98041229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98000336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 128 (T128A)

Ref Sequence

ENSEMBL: ENSMUSP00000099432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103143] [ENSMUST00000149327] [ENSMUST00000150378]

AlphaFold

Q9CZV8

Predicted Effect

probably benign
Transcript: ENSMUST00000103143
AA Change: T128A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: T128A

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: ENSMUST00000149327

SMART Domains

Protein: ENSMUSP00000120709
Gene: ENSMUSG00000020883

Domain	Start	End	E-Value	Type
FBOX	14	54	2.62e-8	SMART
Blast:LRR	76	101	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150378

SMART Domains

Protein: ENSMUSP00000119003
Gene: ENSMUSG00000020883

Domain	Start	End	E-Value	Type
FBOX	30	70	2.62e-8	SMART
LRR	92	117	3.69e1	SMART
LRR	121	146	7.9e-4	SMART
LRR_CC	147	172	4.61e-5	SMART
LRR	173	198	7.15e-2	SMART

Meta Mutation Damage Score

0.1536

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,504 (GRCm39)	C3526S	probably damaging	Het
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Orm2	A	T	4: 63,282,196 (GRCm39)	M125L	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss16	A	T	13: 22,190,237 (GRCm39)	V307E	probably damaging	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Ugt2b1	C	A	5: 87,067,116 (GRCm39)	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	probably benign	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
R6916:Fbxl20	UTSW	11	98,004,079 (GRCm39)	missense	possibly damaging	0.78
R7381:Fbxl20	UTSW	11	97,981,614 (GRCm39)	missense	probably benign	0.01
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'- AGGAAGCCTTCTGTTCCACCTC -3'
(R):5'- GCAGATAGGTACTGGCTATTTCC -3'

Sequencing Primer
(F):5'- CTTCTAGCACTGGGGACGTAG -3'
(R):5'- ACTTGCTAGCATGAGTCCAG -3'

Posted On

2018-08-29