Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Fbxo32'

535279

Institutional Source

Beutler Lab

Gene Symbol

Fbxo32

Ensembl Gene

ENSMUSG00000022358

Gene Name

F-box protein 32

Synonyms

atrogin-1, ATROGIN1, MAFbx, 4833442G10Rik

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58039275-58078288 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 58078037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022986]

AlphaFold

Q9CPU7

Predicted Effect

probably benign
Transcript: ENSMUST00000022986

SMART Domains

Protein: ENSMUSP00000022986
Gene: ENSMUSG00000022358

Domain	Start	End	E-Value	Type
Blast:FBOX	228	269	6e-16	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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 the 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 Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	Het

Other mutations in Fbxo32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Fbxo32	APN	15	58,047,632 (GRCm39)	missense	probably damaging	0.98
IGL02371:Fbxo32	APN	15	58,044,860 (GRCm39)	utr 3 prime	probably benign
IGL02721:Fbxo32	APN	15	58,046,358 (GRCm39)	missense	possibly damaging	0.85
R0277:Fbxo32	UTSW	15	58,047,605 (GRCm39)	missense	probably damaging	1.00
R0323:Fbxo32	UTSW	15	58,047,605 (GRCm39)	missense	probably damaging	1.00
R1661:Fbxo32	UTSW	15	58,054,865 (GRCm39)	missense	probably damaging	1.00
R2315:Fbxo32	UTSW	15	58,071,431 (GRCm39)	missense	probably benign	0.28
R2321:Fbxo32	UTSW	15	58,054,689 (GRCm39)	missense	possibly damaging	0.52
R2849:Fbxo32	UTSW	15	58,071,368 (GRCm39)	missense	probably benign
R4233:Fbxo32	UTSW	15	58,055,729 (GRCm39)	missense	possibly damaging	0.81
R4569:Fbxo32	UTSW	15	58,044,873 (GRCm39)	missense	probably damaging	0.99
R7747:Fbxo32	UTSW	15	58,054,757 (GRCm39)	missense	probably damaging	1.00
R7868:Fbxo32	UTSW	15	58,077,986 (GRCm39)	missense	probably damaging	1.00
R8317:Fbxo32	UTSW	15	58,068,626 (GRCm39)	missense	probably damaging	1.00
R9009:Fbxo32	UTSW	15	58,046,358 (GRCm39)	missense	possibly damaging	0.85
Z1176:Fbxo32	UTSW	15	58,068,638 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGCTAAAATCAGTTTTGTGGG -3'
(R):5'- TCAGCATTCCCAGAGTCAGG -3'

Sequencing Primer
(F):5'- AAAATCAGTTTTGTGGGGCTGGAAG -3'
(R):5'- AGAGTCAGGAGGCGACCTTC -3'

Posted On

2018-09-12