Mutagenetix > Incidental Mutations

Incidental Mutation 'R7556:Fbxl21'

584797

Institutional Source

Beutler Lab

Gene Symbol

Fbxl21

Ensembl Gene

ENSMUSG00000035509

Gene Name

F-box and leucine-rich repeat protein 21

Synonyms

D630045D17Rik, FBL3B, FBXL3B, Psttm

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56522472-56537898 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56526928 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 31 (N31Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045428] [ENSMUST00000121095] [ENSMUST00000121871] [ENSMUST00000124981] [ENSMUST00000128668]

Predicted Effect

probably benign
Transcript: ENSMUST00000045428
AA Change: N5Y

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
AA Change: N5Y

Domain	Start	End	E-Value	Type
FBOX	45	85	4.77e-11	SMART
SCOP:d1a4ya_	177	398	3e-3	SMART
Blast:LRR	203	228	2e-7	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121095
AA Change: N31Y

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112714
Gene: ENSMUSG00000035509
AA Change: N31Y

Domain	Start	End	E-Value	Type
FBOX	71	111	4.77e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121871
AA Change: N31Y

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
AA Change: N31Y

Domain	Start	End	E-Value	Type
FBOX	71	111	4.77e-11	SMART
SCOP:d1a4ya_	203	424	2e-3	SMART
Blast:LRR	229	254	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000124981

Predicted Effect

probably benign
Transcript: ENSMUST00000128668

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice with a point mutation exhibit a short circadian free-running period in constant darkness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,310,313	W11*	probably null	Het
A2ml1	A	G	6: 128,569,964	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,277,121	Y592N	probably benign	Het
Adh6b	C	T	3: 138,352,785	T76I	probably damaging	Het
Aebp2	C	A	6: 140,677,411	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,040,400	D134G		Het
Atf7ip	T	C	6: 136,561,241	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,981,566	D832G	probably benign	Het
Atrnl1	G	A	19: 57,654,846	V389I	probably benign	Het
Bahcc1	T	C	11: 120,287,763	S2383P	probably damaging	Het
BC051142	A	T	17: 34,437,717	I103F	unknown	Het
Brd9	A	G	13: 73,944,767	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,472,673	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,284,566		probably benign	Het
Cdc42ep4	C	G	11: 113,728,540	E342Q	probably damaging	Het
Celf3	C	T	3: 94,480,283	T54M	probably damaging	Het
Cenpn	T	C	8: 116,937,269	Y267H	probably damaging	Het
Chrnb4	T	C	9: 55,035,055	T312A	probably benign	Het
Clcn3	T	A	8: 60,929,487	T383S	probably damaging	Het
Cln3	T	C	7: 126,575,070	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,125,133	L50P	probably damaging	Het
Cnot6	T	C	11: 49,675,317	N512S	probably benign	Het
Col7a1	T	A	9: 108,982,465		probably null	Het
Cryba4	C	T	5: 112,251,103	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,243	I1260V	probably null	Het
Dock2	G	T	11: 34,720,951	T195K	probably benign	Het
Dpp9	A	T	17: 56,190,012	I740N	possibly damaging	Het
Frat1	G	A	19: 41,830,520	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,531,374	F228S		Het
Golgb1	A	T	16: 36,915,793	M1842L	probably benign	Het
Got1	A	T	19: 43,503,030	M327K	probably damaging	Het
Hexa	T	A	9: 59,563,299	L468Q	probably damaging	Het
Hist1h4i	A	G	13: 22,041,244	I27T	probably damaging	Het
Ift57	G	A	16: 49,706,128	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,391,475	T60A	probably benign	Het
Klk5	A	G	7: 43,847,225	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,962,778	G16C	unknown	Het
Lamb3	T	C	1: 193,332,449	S639P	probably benign	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mcf2l	A	G	8: 12,973,071	T86A	probably damaging	Het
Mecom	G	T	3: 29,987,071	H125N	probably benign	Het
Med18	T	C	4: 132,459,936	H84R	probably benign	Het
Muc2	A	G	7: 141,753,702	Y798C		Het
Mycbp	T	C	4: 123,905,267	Y17H	probably damaging	Het
Nacad	C	T	11: 6,601,272	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,270,794	V1092I	probably damaging	Het
Nomo1	A	G	7: 46,066,218	E696G	probably damaging	Het
Notch4	G	A	17: 34,575,470	C741Y	probably damaging	Het
Olfr212	C	T	6: 116,516,736	Q320*	probably null	Het
Olfr978	A	G	9: 39,994,682	N291D	probably damaging	Het
Osbpl10	C	A	9: 115,207,624	H229Q	probably damaging	Het
Pif1	A	T	9: 65,589,711		probably null	Het
Plk2	T	G	13: 110,396,588		probably null	Het
Ppp1r42	T	C	1: 9,995,183	H172R	probably benign	Het
Ring1	A	G	17: 34,021,714	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,299,045	Y475D	probably damaging	Het
Sbf2	T	A	7: 110,314,053	K1671N	probably benign	Het
Sema6d	A	G	2: 124,654,189	N51S	probably damaging	Het
Setx	C	A	2: 29,146,493	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,567,965	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,865,754	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,007,442	K173*	probably null	Het
Smc2	T	C	4: 52,457,379	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,701,984	M777V	probably benign	Het
Stkld1	A	T	2: 26,947,295	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,909,031	V93A		Het
Tbx20	T	C	9: 24,750,277		probably null	Het
Trbv20	G	A	6: 41,188,781	V47I	probably benign	Het
Trip4	A	T	9: 65,874,873	C192*	probably null	Het
Tulp2	A	G	7: 45,518,581		probably null	Het
Ush2a	C	A	1: 188,957,493	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,677,831	N369K	probably benign	Het
Vmn2r59	A	T	7: 42,045,809	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Xpot	A	G	10: 121,613,506	S30P	probably benign	Het
Zfp947	T	C	17: 22,145,616	Y359C	probably benign	Het

Other mutations in Fbxl21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Fbxl21	APN	13	56527709	splice site	probably benign
IGL01972:Fbxl21	APN	13	56536859	nonsense	probably null
IGL02450:Fbxl21	APN	13	56526953	missense	possibly damaging	0.52
IGL02667:Fbxl21	APN	13	56537129	missense	probably benign	0.07
IGL02945:Fbxl21	APN	13	56527170	missense	probably damaging	1.00
R1535:Fbxl21	UTSW	13	56523527	start codon destroyed	probably benign	0.01
R1741:Fbxl21	UTSW	13	56537102	missense	probably benign	0.06
R1863:Fbxl21	UTSW	13	56527063	missense	probably benign	0.01
R1886:Fbxl21	UTSW	13	56527093	missense	probably benign	0.24
R3176:Fbxl21	UTSW	13	56537122	nonsense	probably null
R3276:Fbxl21	UTSW	13	56537122	nonsense	probably null
R3732:Fbxl21	UTSW	13	56527017	missense	probably benign	0.01
R3732:Fbxl21	UTSW	13	56527017	missense	probably benign	0.01
R3733:Fbxl21	UTSW	13	56527017	missense	probably benign	0.01
R4535:Fbxl21	UTSW	13	56527060	missense	probably damaging	0.99
R4678:Fbxl21	UTSW	13	56537049	missense	probably damaging	1.00
R5264:Fbxl21	UTSW	13	56532323	missense	probably benign	0.17
R5640:Fbxl21	UTSW	13	56537381	missense	probably benign	0.23
R5714:Fbxl21	UTSW	13	56527072	missense	probably benign	0.29
R6640:Fbxl21	UTSW	13	56537009	missense	probably damaging	1.00
R6989:Fbxl21	UTSW	13	56527061	missense	probably damaging	1.00
R7140:Fbxl21	UTSW	13	56532332	missense	probably damaging	1.00
R7180:Fbxl21	UTSW	13	56523527	start codon destroyed	probably benign	0.01
R7760:Fbxl21	UTSW	13	56526934	missense	probably benign	0.00
R7760:Fbxl21	UTSW	13	56537003	missense	probably benign
R7911:Fbxl21	UTSW	13	56537163	missense	probably damaging	0.99
X0019:Fbxl21	UTSW	13	56532429	missense	possibly damaging	0.82
X0026:Fbxl21	UTSW	13	56527112	missense	probably damaging	1.00
Z1176:Fbxl21	UTSW	13	56527003	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGCACCAATCAATGCGTGG -3'
(R):5'- CTCCAAAGATCAGGGATGTGG -3'

Sequencing Primer
(F):5'- CACCAATCAATGCGTGGAATGTAAG -3'
(R):5'- GCCCGGGCTCGATCTATTAAAG -3'

Posted On

2019-10-17