Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Fbxo46'

48230

Institutional Source

Beutler Lab

Gene Symbol

Fbxo46

Ensembl Gene

ENSMUSG00000050428

Gene Name

F-box protein 46

Synonyms

20D7-FC4, 4932704E22Rik, Fbxo34l

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18853784-18872186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18870799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 473 (M473V)

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: M473V

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: M473V

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: M473V

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: M473V

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

0.4788

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,468,282 (GRCm39)	S373T	probably damaging	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cerk	G	A	15: 86,040,849 (GRCm39)	T170I	probably damaging	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or13p8	T	A	4: 118,583,831 (GRCm39)	I129K	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Rbm15	A	T	3: 107,238,685 (GRCm39)	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,049,720 (GRCm39)	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	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
R0840:Fbxo46	UTSW	7	18,871,073 (GRCm39)	missense	possibly damaging	0.90
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'- CTTTGGCAAAGATGGCACCAAGAAC -3'
(R):5'- CAGAGTGACACATCACCCTTCTCG -3'

Sequencing Primer
(F):5'- AAGAGACTGTGTGCCTGAC -3'
(R):5'- TTGCGGCACTGCTTACAAG -3'

Posted On

2013-06-12