Mutagenetix > Incidental Mutations

Incidental Mutation 'R2163:Fbxo3'

235261

Institutional Source

Beutler Lab

Gene Symbol

Fbxo3

Ensembl Gene

ENSMUSG00000027180

Gene Name

F-box protein 3

Synonyms

Fba, 1200002G09Rik, 1700026K02Rik

MMRRC Submission

040166-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104027721-104063240 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104054985 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 400 (H400N)

Ref Sequence

ENSEMBL: ENSMUSP00000099625 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028603
AA Change: H400N

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: H400N

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 benign
Transcript: ENSMUST00000102565
AA Change: H400N

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: H400N

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 benign
Transcript: ENSMUST00000111135
AA Change: H395N

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: H395N

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 benign
Transcript: ENSMUST00000111136

SMART Domains

Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180

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

Meta Mutation Damage Score

0.1856

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,576,826		probably benign	Het
2410089E03Rik	T	A	15: 8,203,251		probably null	Het
4930578I07Rik	C	A	14: 66,938,548	T64K	unknown	Het
Ablim2	T	C	5: 35,802,353		probably benign	Het
Acp4	T	C	7: 44,255,976	D107G	probably damaging	Het
Adamts2	T	A	11: 50,788,805	C871S	probably benign	Het
Adamts3	A	G	5: 89,708,718	V332A	probably damaging	Het
Alkal1	C	T	1: 6,389,512	T104M	probably benign	Het
Astn1	A	G	1: 158,502,150	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,392,003	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,259,195	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,362,319	T964I	probably damaging	Het
Carf	T	C	1: 60,147,486		probably benign	Het
Catsper2	T	C	2: 121,400,175	D295G	probably damaging	Het
Cdh1	A	G	8: 106,649,081	T84A	probably benign	Het
Chd8	T	A	14: 52,198,818	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,711,231	T284S	probably damaging	Het
Chtop	A	T	3: 90,502,211	M125K	probably benign	Het
Col14a1	T	A	15: 55,444,645		probably benign	Het
Cyp2b10	A	T	7: 25,925,385		probably benign	Het
Cyp2c70	G	A	19: 40,160,719	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,286,356	T77A	probably damaging	Het
Dnah6	A	T	6: 73,089,746		probably null	Het
Efhd1	A	T	1: 87,289,473	D104V	probably damaging	Het
Eif5b	A	T	1: 38,048,794	D957V	probably benign	Het
Eps15	T	A	4: 109,370,669	S549R	probably damaging	Het
Fcer1a	A	G	1: 173,222,697	V86A	probably damaging	Het
Fh1	A	G	1: 175,614,840	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,808,603	H466N	unknown	Het
Gadl1	T	A	9: 115,949,558	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,317,766		noncoding transcript	Het
Gm6614	G	A	6: 141,980,938	T554I	possibly damaging	Het
Hivep2	T	A	10: 14,128,226	Y189*	probably null	Het
Hoxd13	T	A	2: 74,669,069	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,078,538		probably benign	Het
Il1r1	A	G	1: 40,294,863	M198V	probably benign	Het
Katnal1	T	A	5: 148,888,936	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Mybpc1	T	C	10: 88,540,942		probably benign	Het
Mycbp2	A	G	14: 103,169,855		probably null	Het
Nell2	G	T	15: 95,429,978	N301K	probably damaging	Het
Nenf	T	A	1: 191,309,935	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,818,218	N293S	probably benign	Het
Nipbl	T	C	15: 8,336,919	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,453,397	F631L	probably benign	Het
Nrp1	T	A	8: 128,497,871	V705E	probably damaging	Het
Nsf	G	C	11: 103,863,333	A459G	possibly damaging	Het
Olfr1128	A	G	2: 87,544,894	S217P	probably damaging	Het
Olfr366	A	G	2: 37,220,077	E196G	probably damaging	Het
Pdia4	C	T	6: 47,798,407	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,541,801	Y192F	probably benign	Het
Pkd2	T	C	5: 104,455,677		probably benign	Het
Ppara	A	G	15: 85,801,046	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,865,086	N169K	probably damaging	Het
Prom1	T	A	5: 44,014,163	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,680,348	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,957,779	K263N	probably damaging	Het
Scn11a	T	G	9: 119,755,025	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,675,956	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,143,282		probably null	Het
Slc4a4	A	G	5: 89,214,576	I840V	probably damaging	Het
Slco1c1	T	A	6: 141,559,752	V419D	probably benign	Het
Sltm	T	A	9: 70,591,682	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,847	K266E	probably benign	Het
Syt15	A	G	14: 34,226,116	E306G	probably benign	Het
Tap1	A	T	17: 34,189,473		probably null	Het
Tbc1d16	G	C	11: 119,155,078		probably benign	Het
Tex47	T	C	5: 7,305,022	Y68H	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,812,501	T13264A	probably damaging	Het
Ubxn2a	A	T	12: 4,885,757	F131Y	probably damaging	Het
Usp40	T	C	1: 87,995,858		probably benign	Het
Vmn1r170	T	C	7: 23,607,037	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,808,927	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,885,015	E673*	probably null	Het
Zfr	T	A	15: 12,162,223	L820I	probably damaging	Het

Other mutations in Fbxo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Fbxo3	APN	2	104033676	missense	probably benign	0.25
IGL02187:Fbxo3	APN	2	104027950	missense	probably damaging	0.99
IGL02323:Fbxo3	APN	2	104047951	missense	probably benign	0.38
IGL02941:Fbxo3	APN	2	104050294	missense	probably damaging	1.00
IGL03160:Fbxo3	APN	2	104030347	nonsense	probably null
IGL03346:Fbxo3	APN	2	104050294	missense	probably damaging	1.00
associative	UTSW	2	104054985	missense	probably benign	0.20
littleknown	UTSW	2	104033667	missense	probably damaging	1.00
overrated	UTSW	2	104051135	missense	probably damaging	1.00
transitory	UTSW	2	104054966	missense	probably damaging	1.00
R2899:Fbxo3	UTSW	2	104051135	missense	probably damaging	1.00
R4256:Fbxo3	UTSW	2	104051165	missense	probably damaging	1.00
R4663:Fbxo3	UTSW	2	104053475	missense	probably damaging	1.00
R4914:Fbxo3	UTSW	2	104054966	missense	probably damaging	1.00
R4915:Fbxo3	UTSW	2	104054966	missense	probably damaging	1.00
R4918:Fbxo3	UTSW	2	104054966	missense	probably damaging	1.00
R7001:Fbxo3	UTSW	2	104051224	missense	probably damaging	1.00
R7223:Fbxo3	UTSW	2	104043012	missense	possibly damaging	0.86
R7226:Fbxo3	UTSW	2	104050297	missense	probably benign	0.08
R7577:Fbxo3	UTSW	2	104051198	missense	possibly damaging	0.89
R7841:Fbxo3	UTSW	2	104059992	missense	unknown
R7897:Fbxo3	UTSW	2	104053412	missense	possibly damaging	0.72
R8039:Fbxo3	UTSW	2	104054941	missense	probably damaging	1.00
R8080:Fbxo3	UTSW	2	104033667	missense	probably damaging	1.00
R8099:Fbxo3	UTSW	2	104054935	missense	probably damaging	0.99
R8256:Fbxo3	UTSW	2	104033663	missense	probably damaging	1.00
R8344:Fbxo3	UTSW	2	104051208	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGCATCCAGAGAATGTAGTCAC -3'
(R):5'- GCCACACAGCTATTGTTGGG -3'

Sequencing Primer
(F):5'- CATCCAGAGAATGTAGTCACTAAAAG -3'
(R):5'- CCACACAGCTATTGTTGGGAACAG -3'

Posted On

2014-10-01