Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Fbxo46'

445666

Institutional Source

Beutler Lab

Gene Symbol

Fbxo46

Ensembl Gene

ENSMUSG00000050428

Gene Name

F-box protein 46

Synonyms

20D7-FC4, 4932704E22Rik, Fbxo34l

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

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

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18853784-18872186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18870420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 346 (D346E)

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

probably damaging
Transcript: ENSMUST00000053109
AA Change: D346E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: D346E

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

probably damaging
Transcript: ENSMUST00000165913
AA Change: D346E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: D346E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Coq5	A	C	5: 115,417,941 (GRCm39)	E57A	probably benign	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Frem3	A	T	8: 81,342,407 (GRCm39)	T1567S	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,905,723 (GRCm39)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or52e7	A	G	7: 104,685,363 (GRCm39)		probably null	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Orc6	A	T	8: 86,029,585 (GRCm39)	Q43L	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	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
R0517:Fbxo46	UTSW	7	18,870,799 (GRCm39)	missense	possibly damaging	0.78
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
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'- TTGTGCCTACCCTGGTAGTC -3'
(R):5'- GGCACTGTGCTTGGTATATCAG -3'

Sequencing Primer
(F):5'- TAGTCCTGGACCTGGGACTC -3'
(R):5'- TTCTGGACCACGGGACTG -3'

Posted On

2016-11-21