Mutagenetix > Incidental Mutation

Incidental Mutation 'R1475:Fbxo6'

163988

Institutional Source

Beutler Lab

Gene Symbol

Fbxo6

Ensembl Gene

ENSMUSG00000055401

Gene Name

F-box protein 6

Synonyms

Fbxo6b, FBG2, Fbs2, Fbx6b

MMRRC Submission

039528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1475 (G1)

Quality Score

225

Status

Validated

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

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (46/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	A	T	8: 122,267,327 (GRCm39)		probably benign	Het
9230112D13Rik	T	A	14: 34,234,012 (GRCm39)	D93V	unknown	Het
Aatk	G	A	11: 119,901,714 (GRCm39)	T894M	probably damaging	Het
Acacb	T	C	5: 114,333,313 (GRCm39)	I479T	possibly damaging	Het
Acap3	T	C	4: 155,987,278 (GRCm39)	I431T	probably damaging	Het
Adgrl1	A	G	8: 84,664,979 (GRCm39)	K1267R	possibly damaging	Het
Bphl	A	C	13: 34,244,507 (GRCm39)	D208A	probably benign	Het
C2cd5	T	C	6: 143,018,298 (GRCm39)	D308G	possibly damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Cdk11b	G	A	4: 155,718,674 (GRCm39)	R208H	probably damaging	Het
Cfap44	T	C	16: 44,254,175 (GRCm39)		probably benign	Het
Chrna4	T	C	2: 180,671,172 (GRCm39)	S195G	probably benign	Het
Cpsf2	T	C	12: 101,951,495 (GRCm39)	L144S	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dffa	T	A	4: 149,201,935 (GRCm39)	L171Q	probably damaging	Het
Emcn	C	T	3: 137,085,668 (GRCm39)	H89Y	possibly damaging	Het
Espn	G	A	4: 152,218,728 (GRCm39)	P452S	probably damaging	Het
Fam78b	T	A	1: 166,829,346 (GRCm39)	I71N	probably damaging	Het
Fam89b	A	G	19: 5,779,447 (GRCm39)	S37P	probably damaging	Het
Fat4	G	A	3: 38,942,472 (GRCm39)	R455H	probably damaging	Het
Fcamr	T	A	1: 130,742,221 (GRCm39)		probably null	Het
Fermt3	T	C	19: 6,996,242 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,817,539 (GRCm39)	D4424V	probably damaging	Het
Gaa	G	A	11: 119,165,142 (GRCm39)		probably null	Het
Glce	T	C	9: 61,968,210 (GRCm39)	T314A	possibly damaging	Het
Hdac5	T	C	11: 102,093,012 (GRCm39)	Q575R	possibly damaging	Het
Il23r	C	A	6: 67,429,280 (GRCm39)		probably null	Het
Kcnj4	T	A	15: 79,368,831 (GRCm39)	E383V	probably damaging	Het
Lrsam1	G	T	2: 32,844,277 (GRCm39)	Q115K	possibly damaging	Het
Lyst	T	A	13: 13,882,797 (GRCm39)		probably null	Het
Myf5	A	G	10: 107,320,515 (GRCm39)	V190A	probably benign	Het
Nmnat2	G	A	1: 152,950,441 (GRCm39)	R42H	probably damaging	Het
Or8b42	T	A	9: 38,342,160 (GRCm39)	V194D	probably benign	Het
Or8k20	A	T	2: 86,105,905 (GRCm39)	*309R	probably null	Het
Osbpl1a	T	A	18: 12,890,737 (GRCm39)	K380M	probably damaging	Het
Pgd	T	C	4: 149,241,232 (GRCm39)	T226A	probably benign	Het
Pitpnm3	T	C	11: 71,965,453 (GRCm39)	T127A	probably damaging	Het
Plekhm2	T	C	4: 141,355,165 (GRCm39)	D954G	possibly damaging	Het
Pramel14	T	C	4: 143,720,882 (GRCm39)	K20E	probably benign	Het
Rasal1	T	A	5: 120,801,047 (GRCm39)	F236I	possibly damaging	Het
Stab1	T	C	14: 30,885,785 (GRCm39)	N63S	probably benign	Het
Syf2	T	A	4: 134,662,745 (GRCm39)	M145K	possibly damaging	Het
Usp34	C	A	11: 23,423,253 (GRCm39)	L3152I	probably damaging	Het
Usp50	T	C	2: 126,611,787 (GRCm39)		probably null	Het
Wdfy4	A	T	14: 32,830,645 (GRCm39)	I929N	probably benign	Het
Zfp874b	A	T	13: 67,622,211 (GRCm39)		probably null	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
IGL03034:Fbxo6	APN	4	148,230,579 (GRCm39)	nonsense	probably null
R0556:Fbxo6	UTSW	4	148,230,632 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ACGCCTTAGCCTTTGCCATAGC -3'
(R):5'- TGCGGACTACATTGTCTTGGCCTC -3'

Sequencing Primer
(F):5'- TGCCATAGCCCTTGCCAG -3'
(R):5'- TTCCAACAGTGGAATGATGCC -3'

Posted On

2014-03-28