Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Fbxo3'

609734

Institutional Source

Beutler Lab

Gene Symbol

Fbxo3

Ensembl Gene

ENSMUSG00000027180

Gene Name

F-box protein 3

Synonyms

Fba, 1700026K02Rik, 1200002G09Rik

MMRRC Submission

045949-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.559) question?

Stock #

R7897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103858144-103893582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103883757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 327 (D327G)

Ref Sequence

ENSEMBL: ENSMUSP00000028603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000102565] [ENSMUST00000111135] [ENSMUST00000111136]

AlphaFold

Q9DC63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028603
AA Change: D327G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: D327G

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	294	384	3.1e-30	PFAM
coiled coil region	417	446	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102565
AA Change: D327G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: D327G

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	293	385	1.8e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111135
AA Change: D322G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: D322G

Domain	Start	End	E-Value	Type
SCOP:d1fs1a1	14	48	4e-3	SMART
Blast:FBOX	16	51	2e-13	BLAST
SMI1_KNR4	116	246	3.02e-5	SMART
Pfam:DUF525	288	380	1.7e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111136
AA Change: D327G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: D327G

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	293	361	1.2e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	TGTTGATCCATA	T	2: 69,154,216 (GRCm39)		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Abcc10	T	C	17: 46,634,999 (GRCm39)	T335A	probably benign	Het
Actr3b	T	C	5: 26,036,657 (GRCm39)	Y245H	probably benign	Het
Afm	G	A	5: 90,695,727 (GRCm39)	M411I	probably benign	Het
Ahr	T	C	12: 35,554,169 (GRCm39)	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,311,232 (GRCm39)	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,215,284 (GRCm39)	Q1151R		Het
Bcl9	A	G	3: 97,112,567 (GRCm39)	V1296A	possibly damaging	Het
Bsn	A	C	9: 107,989,065 (GRCm39)	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,514,351 (GRCm39)	V529A		Het
Clip1	C	T	5: 123,760,861 (GRCm39)	V767M	probably benign	Het
Col6a5	A	G	9: 105,766,382 (GRCm39)	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,618,656 (GRCm39)	D68E	probably benign	Het
Csmd1	A	T	8: 17,584,935 (GRCm39)	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,968,931 (GRCm39)	I892T	probably benign	Het
Efcab3	A	T	11: 104,889,061 (GRCm39)	Y4159F	probably benign	Het
Elavl3	G	A	9: 21,929,846 (GRCm39)	R353C	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Galr1	T	C	18: 82,424,256 (GRCm39)	N7S	probably benign	Het
Glyatl3	T	C	17: 41,215,802 (GRCm39)	T235A	probably damaging	Het
Gm5145	A	C	17: 20,790,967 (GRCm39)	Q115P	probably benign	Het
Grm5	T	C	7: 87,780,069 (GRCm39)	S1202P	probably benign	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Jmjd1c	A	G	10: 67,075,644 (GRCm39)	N1837S	probably damaging	Het
Jph3	A	T	8: 122,516,136 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,761 (GRCm39)	L376P	probably damaging	Het
Kcne3	C	G	7: 99,833,520 (GRCm39)	R46G	probably benign	Het
Kcnq2	T	C	2: 180,722,934 (GRCm39)	D842G	probably damaging	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Kpna1	T	A	16: 35,854,235 (GRCm39)	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,798,949 (GRCm39)	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,207,723 (GRCm39)	G61D	possibly damaging	Het
Nol4	T	C	18: 22,956,400 (GRCm39)	N115D		Het
Nudt16l2	A	C	9: 105,021,709 (GRCm39)	Y112*	probably null	Het
Pcdh15	A	G	10: 74,289,827 (GRCm39)	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,244,202 (GRCm39)	H79L	probably benign	Het
Pdia2	T	C	17: 26,417,207 (GRCm39)	E79G	probably benign	Het
Pgap1	A	T	1: 54,590,167 (GRCm39)	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,741,726 (GRCm39)	T407S	probably benign	Het
Pkd1l2	G	T	8: 117,724,827 (GRCm39)	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,246,816 (GRCm39)	R77*	probably null	Het
Ppfia2	A	G	10: 106,655,399 (GRCm39)	Y322C	probably damaging	Het
Psg23	T	C	7: 18,341,108 (GRCm39)	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,546,484 (GRCm39)	V270A	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Robo2	T	C	16: 73,695,838 (GRCm39)	E1431G	probably benign	Het
Sdk2	A	G	11: 113,764,027 (GRCm39)	I253T	possibly damaging	Het
Sox9	A	C	11: 112,675,635 (GRCm39)	I275L	probably benign	Het
Tlr4	A	G	4: 66,758,058 (GRCm39)	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860 (GRCm39)	D896G	unknown	Het
Usp48	A	T	4: 137,371,739 (GRCm39)	H955L	probably damaging	Het
Vps54	T	C	11: 21,213,307 (GRCm39)	I30T	probably benign	Het
Zfp106	G	A	2: 120,366,096 (GRCm39)	R59*	probably null	Het
Zmym4	A	T	4: 126,783,332 (GRCm39)	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,525,448 (GRCm39)	Y390N	probably damaging	Het

Other mutations in Fbxo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Fbxo3	APN	2	103,864,021 (GRCm39)	missense	probably benign	0.25
IGL02187:Fbxo3	APN	2	103,858,295 (GRCm39)	missense	probably damaging	0.99
IGL02323:Fbxo3	APN	2	103,878,296 (GRCm39)	missense	probably benign	0.38
IGL02941:Fbxo3	APN	2	103,880,639 (GRCm39)	missense	probably damaging	1.00
IGL03160:Fbxo3	APN	2	103,860,692 (GRCm39)	nonsense	probably null
IGL03346:Fbxo3	APN	2	103,880,639 (GRCm39)	missense	probably damaging	1.00
associative	UTSW	2	103,885,330 (GRCm39)	missense	probably benign	0.20
littleknown	UTSW	2	103,864,012 (GRCm39)	missense	probably damaging	1.00
overrated	UTSW	2	103,881,480 (GRCm39)	missense	probably damaging	1.00
transitory	UTSW	2	103,885,311 (GRCm39)	missense	probably damaging	1.00
R2163:Fbxo3	UTSW	2	103,885,330 (GRCm39)	missense	probably benign	0.20
R2899:Fbxo3	UTSW	2	103,881,480 (GRCm39)	missense	probably damaging	1.00
R4256:Fbxo3	UTSW	2	103,881,510 (GRCm39)	missense	probably damaging	1.00
R4663:Fbxo3	UTSW	2	103,883,820 (GRCm39)	missense	probably damaging	1.00
R4914:Fbxo3	UTSW	2	103,885,311 (GRCm39)	missense	probably damaging	1.00
R4915:Fbxo3	UTSW	2	103,885,311 (GRCm39)	missense	probably damaging	1.00
R4918:Fbxo3	UTSW	2	103,885,311 (GRCm39)	missense	probably damaging	1.00
R7001:Fbxo3	UTSW	2	103,881,569 (GRCm39)	missense	probably damaging	1.00
R7223:Fbxo3	UTSW	2	103,873,357 (GRCm39)	missense	possibly damaging	0.86
R7226:Fbxo3	UTSW	2	103,880,642 (GRCm39)	missense	probably benign	0.08
R7577:Fbxo3	UTSW	2	103,881,543 (GRCm39)	missense	possibly damaging	0.89
R7841:Fbxo3	UTSW	2	103,890,337 (GRCm39)	missense	unknown
R8039:Fbxo3	UTSW	2	103,885,286 (GRCm39)	missense	probably damaging	1.00
R8080:Fbxo3	UTSW	2	103,864,012 (GRCm39)	missense	probably damaging	1.00
R8099:Fbxo3	UTSW	2	103,885,280 (GRCm39)	missense	probably damaging	0.99
R8256:Fbxo3	UTSW	2	103,864,008 (GRCm39)	missense	probably damaging	1.00
R8344:Fbxo3	UTSW	2	103,881,553 (GRCm39)	missense	possibly damaging	0.93
R8960:Fbxo3	UTSW	2	103,858,274 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTGAAAGCATTTTCCTGGGG -3'
(R):5'- TAAAGTGATAGGCTAACACCTCCAC -3'

Sequencing Primer
(F):5'- AAGCAGTGTCTTTGAGAACTTAGG -3'
(R):5'- GATAGGCTAACACCTCCACTAATTAC -3'

Posted On

2019-12-20