Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4403001:Fbxl3'

555496

Institutional Source

Beutler Lab

Gene Symbol

Fbxl3

Ensembl Gene

ENSMUSG00000022124

Gene Name

F-box and leucine-rich repeat protein 3

Synonyms

Fbxl3a, Play68, Ovtm, Fbl3a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

PIT4403001 (G1)

Quality Score

190.009

Status

Not validated

Chromosome

Chromosomal Location

103317675-103337002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103332900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 26 (T26M)

Ref Sequence

ENSEMBL: ENSMUSP00000117701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000123043] [ENSMUST00000132004] [ENSMUST00000144141] [ENSMUST00000145693]

AlphaFold

Q8C4V4

Predicted Effect

probably benign
Transcript: ENSMUST00000022720
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: T26M

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123043
AA Change: T26M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117701
Gene: ENSMUSG00000022124
AA Change: T26M

Domain	Start	End	E-Value	Type
FBOX	39	79	2.46e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132004
AA Change: T26M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: T26M

Domain	Start	End	E-Value	Type
FBOX	39	79	2.46e-4	SMART
low complexity region	187	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144141
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120691
Gene: ENSMUSG00000022124
AA Change: T26M

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145693
AA Change: T26M

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: T26M

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226952

Coding Region Coverage

1x: 92.7%
3x: 90.5%
10x: 84.9%
20x: 73.1%

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 several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous mutant mice display a longer free running period than that of wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	T	C	3: 138,129,939 (GRCm39)	V255A	probably damaging	Het
Ahnak	T	C	19: 8,983,540 (GRCm39)	I1608T	possibly damaging	Het
Atm	A	T	9: 53,412,282 (GRCm39)	D955E	probably benign	Het
Cacybp	A	G	1: 160,033,764 (GRCm39)	S113P	probably damaging	Het
Cenpu	C	T	8: 47,015,564 (GRCm39)	P160S	possibly damaging	Het
Clstn3	C	T	6: 124,434,982 (GRCm39)	G348D	probably damaging	Het
Cmtr1	T	G	17: 29,917,047 (GRCm39)		probably null	Het
Dlgap2	T	C	8: 14,881,528 (GRCm39)	S867P	probably damaging	Het
Fbn1	A	T	2: 125,184,831 (GRCm39)	C1654S	probably damaging	Het
Garnl3	A	T	2: 32,880,770 (GRCm39)	L874Q	probably damaging	Het
Gcm2	A	G	13: 41,256,315 (GRCm39)	V478A	probably benign	Het
Gm1527	T	C	3: 28,972,134 (GRCm39)	I417T	possibly damaging	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,824 (GRCm39)	S95P	probably damaging	Het
Jak3	C	T	8: 72,136,993 (GRCm39)	T723I	probably benign	Het
Jup	A	G	11: 100,268,913 (GRCm39)		probably null	Het
Kcng3	A	G	17: 83,895,611 (GRCm39)	L285S	probably damaging	Het
Kmt2b	G	A	7: 30,285,114 (GRCm39)	P593S	probably damaging	Het
Matcap1	T	C	8: 106,011,376 (GRCm39)	N253D	probably benign	Het
Mstn	T	C	1: 53,100,944 (GRCm39)	M7T	probably benign	Het
Myh2	A	T	11: 67,077,533 (GRCm39)	K889N	probably benign	Het
Myo5a	A	G	9: 75,124,805 (GRCm39)	T1787A	probably damaging	Het
Nlrp14	A	T	7: 106,784,099 (GRCm39)	Q607L	possibly damaging	Het
Ntf3	C	T	6: 126,078,789 (GRCm39)	R239Q	probably damaging	Het
Nup85	G	T	11: 115,472,646 (GRCm39)	R492L	probably damaging	Het
Ogfod3	A	C	11: 121,087,561 (GRCm39)		probably null	Het
Or1j18	T	A	2: 36,624,930 (GRCm39)	I199K	probably damaging	Het
Or4c115	T	A	2: 88,927,420 (GRCm39)	M284L	probably benign	Het
Or4k40	A	T	2: 111,251,165 (GRCm39)	F44I	probably benign	Het
Or52h2	A	G	7: 103,838,667 (GRCm39)	V249A	probably benign	Het
Or8d1	T	C	9: 38,766,676 (GRCm39)	I106T	probably benign	Het
Oxct2a	A	T	4: 123,216,237 (GRCm39)	D381E	probably damaging	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pdgfc	C	T	3: 81,082,268 (GRCm39)	P154S	probably damaging	Het
Phkg1	T	C	5: 129,894,772 (GRCm39)	T260A	probably benign	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Plekhj1	C	T	10: 80,632,293 (GRCm39)	D150N	unknown	Het
Plppr1	T	G	4: 49,337,648 (GRCm39)	N316K	probably benign	Het
Pola2	A	C	19: 6,009,074 (GRCm39)	S95A	possibly damaging	Het
Polq	G	A	16: 36,880,949 (GRCm39)	D1038N	probably benign	Het
Prim1	A	T	10: 127,858,745 (GRCm39)	I218L	probably benign	Het
Prkcz	A	G	4: 155,377,613 (GRCm39)		probably null	Het
Ptgr1	T	C	4: 58,968,794 (GRCm39)	K282E	probably benign	Het
Rbm5	A	G	9: 107,637,535 (GRCm39)	M132T	probably damaging	Het
Scn2a	C	T	2: 65,542,252 (GRCm39)	T785M	probably damaging	Het
Setx	A	G	2: 29,023,967 (GRCm39)	E141G	probably damaging	Het
Slc24a2	A	G	4: 86,950,523 (GRCm39)	F425L	probably benign	Het
Smarcc2	A	T	10: 128,298,893 (GRCm39)	H92L	probably damaging	Het
Tatdn1	C	G	15: 58,777,596 (GRCm39)	E220Q	probably damaging	Het
Tmc7	C	A	7: 118,146,623 (GRCm39)	Q488H	probably benign	Het
Tmc7	T	G	7: 118,146,624 (GRCm39)	Q488P	possibly damaging	Het
Tmem45b	C	T	9: 31,338,188 (GRCm39)	D264N	probably benign	Het
Tmtc4	A	C	14: 123,210,641 (GRCm39)	S72R	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Ubac1	A	T	2: 25,896,609 (GRCm39)	M302K	probably benign	Het
Ubox5	A	G	2: 130,442,597 (GRCm39)	I30T	probably damaging	Het
Vwce	A	G	19: 10,615,461 (GRCm39)	N114S	possibly damaging	Het
Xpo5	T	A	17: 46,550,495 (GRCm39)	D992E	probably benign	Het
Zfhx2	G	A	14: 55,312,437 (GRCm39)	P86S	probably benign	Het
Zfp335	T	C	2: 164,735,636 (GRCm39)	H1106R	possibly damaging	Het
Zfp653	T	A	9: 21,977,053 (GRCm39)	Q166L	probably damaging	Het
Zp3r	T	A	1: 130,510,609 (GRCm39)	N436I	possibly damaging	Het

Other mutations in Fbxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Fbxl3	APN	14	103,332,730 (GRCm39)	missense	probably damaging	1.00
IGL01981:Fbxl3	APN	14	103,332,900 (GRCm39)	missense	possibly damaging	0.79
IGL03208:Fbxl3	APN	14	103,320,376 (GRCm39)	nonsense	probably null
delargo	UTSW	14	103,326,854 (GRCm39)	missense	probably damaging	1.00
R0282:Fbxl3	UTSW	14	103,332,661 (GRCm39)	missense	probably damaging	1.00
R0462:Fbxl3	UTSW	14	103,320,322 (GRCm39)	missense	probably damaging	1.00
R0710:Fbxl3	UTSW	14	103,326,751 (GRCm39)	missense	probably damaging	1.00
R1075:Fbxl3	UTSW	14	103,332,839 (GRCm39)	missense	probably benign	0.00
R2263:Fbxl3	UTSW	14	103,320,648 (GRCm39)	nonsense	probably null
R4239:Fbxl3	UTSW	14	103,326,854 (GRCm39)	missense	probably damaging	1.00
R4362:Fbxl3	UTSW	14	103,329,749 (GRCm39)	missense	probably damaging	1.00
R4497:Fbxl3	UTSW	14	103,320,313 (GRCm39)	missense	probably damaging	1.00
R4585:Fbxl3	UTSW	14	103,320,526 (GRCm39)	missense	probably damaging	0.99
R4586:Fbxl3	UTSW	14	103,320,526 (GRCm39)	missense	probably damaging	0.99
R5347:Fbxl3	UTSW	14	103,320,730 (GRCm39)	missense	probably damaging	0.97
R5349:Fbxl3	UTSW	14	103,333,012 (GRCm39)	intron	probably benign
R5885:Fbxl3	UTSW	14	103,320,667 (GRCm39)	missense	probably benign	0.06
R6744:Fbxl3	UTSW	14	103,320,730 (GRCm39)	missense	probably damaging	0.99
R8314:Fbxl3	UTSW	14	103,326,876 (GRCm39)	missense	probably benign	0.04
R9015:Fbxl3	UTSW	14	103,329,790 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TCAAGTAAGATGTCGCTGGC -3'
(R):5'- CTCCTTGAATTGTTGGGCCAGG -3'

Sequencing Primer
(F):5'- CAAGTAAGATGTCGCTGGCTGATTC -3'
(R):5'- GCCAGGTTTTCATGCGTATTTC -3'

Posted On

2019-06-07