Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02996:Fbxo6'

407135

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 #

IGL02996

Quality Score

Status

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148231348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 144 (Y144C)

Ref Sequence

ENSEMBL: ENSMUSP00000130188 (fasta)

Gene Model

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

AlphaFold

Q9QZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030858
AA Change: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: Y144C

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: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: Y144C

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: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: Y144C

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: ENSMUST00000152098
AA Change: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: Y144C

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: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: Y144C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168503
AA Change: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: Y144C

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: Y144C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
AA Change: Y144C

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt1	C	T	10: 127,002,872 (GRCm39)	R130W	probably damaging	Het
Cd200r3	T	C	16: 44,774,680 (GRCm39)	L231P	probably damaging	Het
Cd200r4	C	A	16: 44,653,396 (GRCm39)	N55K	probably benign	Het
Cyb561d1	C	T	3: 108,106,961 (GRCm39)	R86Q	probably damaging	Het
Dst	T	C	1: 34,227,479 (GRCm39)	S1869P	possibly damaging	Het
Dusp6	T	C	10: 99,100,628 (GRCm39)	V208A	possibly damaging	Het
Dync2h1	A	T	9: 6,935,279 (GRCm39)	V4248E	probably damaging	Het
Exoc6b	T	A	6: 84,885,195 (GRCm39)	D248V	probably benign	Het
Fat4	A	C	3: 39,012,674 (GRCm39)	D2323A	probably damaging	Het
Gm7334	C	A	17: 51,006,084 (GRCm39)	N123K	possibly damaging	Het
Large2	T	C	2: 92,196,273 (GRCm39)	H518R	possibly damaging	Het
Marchf4	G	A	1: 72,468,058 (GRCm39)	Q325*	probably null	Het
Mccc2	C	A	13: 100,097,487 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,935,519 (GRCm39)	D1669G	probably damaging	Het
Mkrn2	T	C	6: 115,588,868 (GRCm39)	F204L	probably benign	Het
Or1p1	T	C	11: 74,179,991 (GRCm39)	V173A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pkn3	A	G	2: 29,970,627 (GRCm39)	D148G	probably benign	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Rwdd1	G	T	10: 33,878,512 (GRCm39)	Q108K	probably damaging	Het
Senp3	T	C	11: 69,565,086 (GRCm39)	E496G	probably damaging	Het
St6gal1	T	A	16: 23,139,904 (GRCm39)	V25E	probably damaging	Het
Syt4	T	C	18: 31,577,199 (GRCm39)	K52E	probably damaging	Het
Tap1	C	A	17: 34,410,370 (GRCm39)	A349E	probably damaging	Het
Tfr2	T	A	5: 137,581,728 (GRCm39)	M605K	probably benign	Het
Tmem192	A	G	8: 65,421,442 (GRCm39)		probably null	Het
Trf	T	C	9: 103,098,102 (GRCm39)	E52G	probably benign	Het
Ttn	A	G	2: 76,556,531 (GRCm39)	V30158A	probably damaging	Het
Unc5a	A	G	13: 55,143,991 (GRCm39)	E152G	probably damaging	Het
Vmn2r57	T	A	7: 41,049,165 (GRCm39)	K861N	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
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

2016-08-02