Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Fbxo46'

77108

Institutional Source

Beutler Lab

Gene Symbol

Fbxo46

Ensembl Gene

ENSMUSG00000050428

Gene Name

F-box protein 46

Synonyms

20D7-FC4, 4932704E22Rik, Fbxo34l

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18853784-18872186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18871073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 564 (M564K)

Ref Sequence

ENSEMBL: ENSMUSP00000129427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032566] [ENSMUST00000053109] [ENSMUST00000165913]

AlphaFold

Q8BG80

Predicted Effect

probably benign
Transcript: ENSMUST00000032566

SMART Domains

Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407

Domain	Start	End	E-Value	Type
low complexity region	27	48	N/A	INTRINSIC
Pfam:Peptidase_M28	151	377	2.3e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053109
AA Change: M564K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: M564K

Domain	Start	End	E-Value	Type
low complexity region	274	292	N/A	INTRINSIC
low complexity region	337	358	N/A	INTRINSIC
low complexity region	366	375	N/A	INTRINSIC
low complexity region	415	424	N/A	INTRINSIC
FBOX	476	516	1.9e-5	SMART
low complexity region	591	603	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165913
AA Change: M564K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: M564K

Domain	Start	End	E-Value	Type
low complexity region	274	292	N/A	INTRINSIC
low complexity region	337	358	N/A	INTRINSIC
low complexity region	366	375	N/A	INTRINSIC
low complexity region	415	424	N/A	INTRINSIC
FBOX	476	516	1.9e-5	SMART
low complexity region	591	603	N/A	INTRINSIC

Meta Mutation Damage Score

0.5351

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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 FBXO46, 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]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	probably null	Het

Other mutations in Fbxo46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Fbxo46	APN	7	18,870,728 (GRCm39)	missense	probably damaging	1.00
IGL01655:Fbxo46	APN	7	18,870,235 (GRCm39)	missense	probably damaging	1.00
IGL02869:Fbxo46	APN	7	18,871,139 (GRCm39)	missense	probably damaging	0.99
IGL02940:Fbxo46	APN	7	18,869,537 (GRCm39)	missense	probably benign	0.00
R0517:Fbxo46	UTSW	7	18,870,799 (GRCm39)	missense	possibly damaging	0.78
R0894:Fbxo46	UTSW	7	18,869,654 (GRCm39)	missense	probably damaging	0.98
R1377:Fbxo46	UTSW	7	18,870,350 (GRCm39)	missense	probably damaging	1.00
R2303:Fbxo46	UTSW	7	18,870,541 (GRCm39)	missense	possibly damaging	0.69
R4601:Fbxo46	UTSW	7	18,869,489 (GRCm39)	missense	probably benign
R5394:Fbxo46	UTSW	7	18,870,541 (GRCm39)	missense	possibly damaging	0.69
R5530:Fbxo46	UTSW	7	18,870,727 (GRCm39)	missense	probably damaging	1.00
R5743:Fbxo46	UTSW	7	18,870,420 (GRCm39)	missense	probably damaging	1.00
R6320:Fbxo46	UTSW	7	18,870,466 (GRCm39)	missense	possibly damaging	0.83
R7639:Fbxo46	UTSW	7	18,870,560 (GRCm39)	missense	probably damaging	1.00
R7748:Fbxo46	UTSW	7	18,870,458 (GRCm39)	missense	probably damaging	0.98
R8348:Fbxo46	UTSW	7	18,870,469 (GRCm39)	missense	probably damaging	1.00
R9068:Fbxo46	UTSW	7	18,869,325 (GRCm39)	start gained	probably benign
R9108:Fbxo46	UTSW	7	18,870,308 (GRCm39)	missense	probably damaging	0.99
R9464:Fbxo46	UTSW	7	18,870,791 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCAAGATATTCAGCTTCCTGCCC -3'
(R):5'- CAAGGTATTTGCCCTGTTGATCCCC -3'

Sequencing Primer
(F):5'- CCACTTCAAGGGGATCATCGAG -3'
(R):5'- TGTTGATCCCCAAACCTGG -3'

Posted On

2013-10-16