Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Fbxo3'

352984

Institutional Source

Beutler Lab

Gene Symbol

Fbxo3

Ensembl Gene

ENSMUSG00000027180

Gene Name

F-box protein 3

Synonyms

Fba, 1700026K02Rik, 1200002G09Rik

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.559) question?

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103858144-103893582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103883820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 348 (V348A)

Ref Sequence

ENSEMBL: ENSMUSP00000106766 (fasta)

Gene Model

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

AlphaFold

Q9DC63

Predicted Effect

probably damaging
Transcript: ENSMUST00000028603
AA Change: V348A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: V348A

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

probably damaging
Transcript: ENSMUST00000102565
AA Change: V348A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: V348A

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

probably damaging
Transcript: ENSMUST00000111135
AA Change: V343A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: V343A

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

probably damaging
Transcript: ENSMUST00000111136
AA Change: V348A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: V348A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143799

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Armc5	C	A	7: 127,837,717 (GRCm39)	A140E	probably benign	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,439,563 (GRCm39)	C488F	probably benign	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lrriq1	T	C	10: 102,899,273 (GRCm39)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	probably benign	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
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
R7897:Fbxo3	UTSW	2	103,883,757 (GRCm39)	missense	possibly damaging	0.72
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'- AACTTAGGGCTAATGTGGACTTTG -3'
(R):5'- CCCTAGATGATGCACAGAAAGG -3'

Sequencing Primer
(F):5'- AGTATTAATTCAAGCGCTGTAGTAC -3'
(R):5'- TGATGCACAGAAAGGGAAATCC -3'

Posted On

2015-10-08