Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00940:Fbxo6'

27270

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 #

IGL00940

Quality Score

Status

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148230567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 232 (F232L)

Ref Sequence

ENSEMBL: ENSMUSP00000130188 (fasta)

Gene Model

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

AlphaFold

Q9QZN4

Predicted Effect

probably benign
Transcript: ENSMUST00000030858
AA Change: F232L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: F232L

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 benign
Transcript: ENSMUST00000056965
AA Change: F232L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: F232L

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 benign
Transcript: ENSMUST00000105706
AA Change: F232L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: F232L

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 benign
Transcript: ENSMUST00000168503
AA Change: F232L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: F232L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126615
AA Change: F232L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: F232L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152098
AA Change: F232L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: F232L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183749

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134261

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401

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

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: ENSMUST00000132698

SMART Domains

Protein: ENSMUSP00000122774
Gene: ENSMUSG00000029003

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

Meta Mutation Damage Score

0.0898

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	A	G	17: 28,276,328 (GRCm39)	N1024D	probably damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dock3	T	A	9: 106,788,576 (GRCm39)		probably benign	Het
Hsd3b6	A	T	3: 98,713,940 (GRCm39)	F120I	probably damaging	Het
Il4ra	G	A	7: 125,168,347 (GRCm39)		probably null	Het
Irs4	A	T	X: 140,505,140 (GRCm39)	F1019I	unknown	Het
Klc1	A	G	12: 111,753,932 (GRCm39)	T464A	probably damaging	Het
Mical3	T	C	6: 120,999,371 (GRCm39)	T660A	possibly damaging	Het
Ndufs7	T	A	10: 80,090,955 (GRCm39)	V158E	probably damaging	Het
Nhs	T	A	X: 160,620,226 (GRCm39)	N1510I	probably damaging	Het
Or51e2	A	G	7: 102,391,469 (GRCm39)	V247A	probably damaging	Het
Or8k38	T	G	2: 86,488,070 (GRCm39)	H244P	probably damaging	Het
Pole2	G	A	12: 69,262,134 (GRCm39)	T148I	probably damaging	Het
Pramel1	T	A	4: 143,124,126 (GRCm39)	L267H	probably damaging	Het
Rag1	T	C	2: 101,472,733 (GRCm39)	E803G	probably damaging	Het
Rassf1	G	T	9: 107,435,510 (GRCm39)		probably benign	Het
Rnf220	T	C	4: 117,164,872 (GRCm39)	K210R	probably benign	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Snd1	T	C	6: 28,745,174 (GRCm39)		probably benign	Het
Spmip9	C	A	6: 70,890,372 (GRCm39)	R140L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Tlr5	T	C	1: 182,801,761 (GRCm39)	V355A	possibly damaging	Het
Ush2a	A	T	1: 188,090,158 (GRCm39)	R414*	probably null	Het
Zfyve26	A	G	12: 79,327,674 (GRCm39)	S559P	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
IGL02996:Fbxo6	APN	4	148,231,348 (GRCm39)	missense	probably damaging	1.00
IGL03034:Fbxo6	APN	4	148,230,579 (GRCm39)	nonsense	probably null
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

2013-04-17