Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00901:Fbxo6'

27206

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: 0.085) question?

Stock #

IGL00901

Quality Score

Status

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148230600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 221 (I221F)

Ref Sequence

ENSEMBL: ENSMUSP00000130188 (fasta)

Gene Model

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

AlphaFold

Q9QZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030858
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: I221F

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 damaging
Transcript: ENSMUST00000056965
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: I221F

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 damaging
Transcript: ENSMUST00000105706
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: I221F

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 damaging
Transcript: ENSMUST00000168503
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: I221F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134261
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
AA Change: I221F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152098
AA Change: I221F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: I221F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126615
AA Change: I221F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: I221F

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	237	1.39e-97	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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	G	12: 84,153,250 (GRCm39)	Y164C	probably benign	Het
Anpep	A	G	7: 79,489,171 (GRCm39)	S334P	probably benign	Het
Arhgef1	A	G	7: 24,612,118 (GRCm39)	E129G	probably damaging	Het
Bmt2	G	T	6: 13,628,748 (GRCm39)	H312N	probably damaging	Het
Brme1	A	G	8: 84,893,400 (GRCm39)	D189G	probably damaging	Het
Ces2g	A	G	8: 105,691,761 (GRCm39)	Y272C	probably benign	Het
Cfap69	T	A	5: 5,669,162 (GRCm39)		probably benign	Het
Cftr	T	C	6: 18,268,429 (GRCm39)		probably null	Het
Clec2g	A	G	6: 128,925,655 (GRCm39)		probably benign	Het
Cyp2b9	A	T	7: 25,897,930 (GRCm39)	I245F	probably damaging	Het
Fbxw21	A	C	9: 108,985,467 (GRCm39)	C104G	probably benign	Het
Flna	A	G	X: 73,273,534 (GRCm39)	S101P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ift88	T	A	14: 57,681,902 (GRCm39)	F229I	probably damaging	Het
Map2k3	T	C	11: 60,832,747 (GRCm39)	S31P	probably benign	Het
Mia2	A	G	12: 59,154,815 (GRCm39)	D176G	probably damaging	Het
Or12d2	T	G	17: 37,624,598 (GRCm39)	K226Q	possibly damaging	Het
Or12e10	A	G	2: 87,640,992 (GRCm39)	Y276C	probably damaging	Het
Or14j6	T	A	17: 38,215,148 (GRCm39)	V237D	probably damaging	Het
Pde7b	C	T	10: 20,494,875 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,467,660 (GRCm39)	I80T	possibly damaging	Het
Prpf4b	T	A	13: 35,078,465 (GRCm39)	Y692N	probably damaging	Het
Rabl2	T	C	15: 89,474,473 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,115,611 (GRCm39)	K659R	probably damaging	Het
Ryr3	A	T	2: 112,716,934 (GRCm39)	S774T	probably damaging	Het
Sema5b	C	T	16: 35,471,685 (GRCm39)	T426M	probably damaging	Het
Serpinb10	A	G	1: 107,468,726 (GRCm39)	K123R	probably benign	Het
Slc33a1	T	C	3: 63,871,433 (GRCm39)	D60G	probably benign	Het
Tnks	A	T	8: 35,305,549 (GRCm39)	Y92*	probably null	Het
Tvp23b	T	A	11: 62,774,606 (GRCm39)		probably benign	Het
Wnk1	T	A	6: 119,937,669 (GRCm39)	Q1218L	probably damaging	Het

Other mutations in Fbxo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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