Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Fbxo6'

408571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo6

Ensembl Gene

ENSMUSG00000055401

Gene Name

F-box protein 6

Synonyms

Fbxo6b, FBG2, Fbs2, Fbx6b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 148230579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 228 (Q228*)

Ref Sequence

ENSEMBL: ENSMUSP00000130188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000030860] [ENSMUST00000056965] [ENSMUST00000084129] [ENSMUST00000105706] [ENSMUST00000105707] [ENSMUST00000126615] [ENSMUST00000152098] [ENSMUST00000168503] [ENSMUST00000134261] [ENSMUST00000132698] [ENSMUST00000132083] [ENSMUST00000140049]

AlphaFold

Q9QZN4

Predicted Effect

probably null
Transcript: ENSMUST00000030858
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030860

SMART Domains

Protein: ENSMUSP00000030860
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
Pfam:HORMA	12	184	1e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000056965
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084129

SMART Domains

Protein: ENSMUSP00000081146
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
Pfam:HORMA	13	167	4.2e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105706
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105707

SMART Domains

Protein: ENSMUSP00000101332
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
Pfam:HORMA	13	171	4.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105708

Predicted Effect

probably null
Transcript: ENSMUST00000126615
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	237	1.39e-97	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152098
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168503
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000134261
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
AA Change: Q228*

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	228	1.89e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148742

Predicted Effect

probably benign
Transcript: ENSMUST00000132698

SMART Domains

Protein: ENSMUSP00000122774
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
Pfam:HORMA	12	168	2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132083

SMART Domains

Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140049

SMART Domains

Protein: ENSMUSP00000120481
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
PDB:4FJO\|C	32	107	1e-47	PDB
SCOP:d1go4a_	32	107	1e-16	SMART

Coding Region Coverage

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 its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Crisp1	T	C	17: 40,618,619 (GRCm39)	T81A	probably benign	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Myocd	T	C	11: 65,109,511 (GRCm39)	T87A	probably benign	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Ttc34	T	C	4: 154,945,640 (GRCm39)	S734P	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	probably benign	Het

Other mutations in Fbxo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Fbxo6	APN	4	148,230,600 (GRCm39)	missense	probably damaging	1.00
IGL00940:Fbxo6	APN	4	148,230,567 (GRCm39)	missense	probably benign	0.05
IGL02996:Fbxo6	APN	4	148,231,348 (GRCm39)	missense	probably damaging	1.00
R0556:Fbxo6	UTSW	4	148,230,632 (GRCm39)	missense	probably damaging	1.00
R1475:Fbxo6	UTSW	4	148,230,567 (GRCm39)	missense	probably benign	0.05
R1482:Fbxo6	UTSW	4	148,230,441 (GRCm39)	nonsense	probably null
R1986:Fbxo6	UTSW	4	148,230,552 (GRCm39)	missense	probably damaging	1.00
R3742:Fbxo6	UTSW	4	148,234,090 (GRCm39)	unclassified	probably benign
R4994:Fbxo6	UTSW	4	148,233,948 (GRCm39)	missense	probably damaging	0.99
R6102:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6103:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6104:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6105:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6129:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6130:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6212:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6220:Fbxo6	UTSW	4	148,233,979 (GRCm39)	missense	probably damaging	1.00
R6392:Fbxo6	UTSW	4	148,230,462 (GRCm39)	missense	probably benign	0.03
R7997:Fbxo6	UTSW	4	148,231,852 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02