Mutagenetix > Incidental Mutation

Incidental Mutation 'R6105:Fbxo6'

485461

Institutional Source

Beutler Lab

Gene Symbol

Fbxo6

Ensembl Gene

ENSMUSG00000055401

Gene Name

F-box protein 6

Synonyms

Fbxo6b, FBG2, Fbs2, Fbx6b

MMRRC Submission

044255-MU

Accession Numbers

Essential gene?

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

Stock #

R6105 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148233979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 39 (I39N)

Ref Sequence

ENSEMBL: ENSMUSP00000130188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000030860] [ENSMUST00000056965] [ENSMUST00000057907] [ENSMUST00000084129] [ENSMUST00000105705] [ENSMUST00000105706] [ENSMUST00000134261] [ENSMUST00000126615] [ENSMUST00000132083] [ENSMUST00000152098] [ENSMUST00000168503] [ENSMUST00000132698] [ENSMUST00000172472] [ENSMUST00000151246] [ENSMUST00000167160] [ENSMUST00000140049] [ENSMUST00000129253] [ENSMUST00000105707]

AlphaFold

Q9QZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030858
AA Change: I39N

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

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: I39N

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: I39N

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

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057907

SMART Domains

Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	252	2.24e-110	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: ENSMUST00000105705

SMART Domains

Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	196	2.79e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105706
AA Change: I39N

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

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: I39N

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: I39N

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

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126615
AA Change: I39N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

unknown
Transcript: ENSMUST00000132083
AA Change: I39N

SMART Domains

Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152098
AA Change: I39N

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

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168503
AA Change: I39N

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

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: I39N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105708

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: ENSMUST00000172472

SMART Domains

Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
Pfam:FBA	68	126	3.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151246

SMART Domains

Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	231	1.43e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167160

SMART Domains

Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	252	2.24e-110	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

Predicted Effect

probably benign
Transcript: ENSMUST00000129253

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	213	1.15e-57	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

probably benign
Transcript: ENSMUST00000153703

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBA	1	143	3.11e-54	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183749

Meta Mutation Damage Score

0.8724

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,347,812 (GRCm39)	M3555T	probably damaging	Het
Adam9	A	T	8: 25,460,775 (GRCm39)	C570S	probably damaging	Het
Adh6b	T	A	3: 138,063,471 (GRCm39)	I350K	possibly damaging	Het
Ahnak	G	A	19: 8,981,463 (GRCm39)	V916I	probably benign	Het
Aldh4a1	C	T	4: 139,365,806 (GRCm39)	P266S	possibly damaging	Het
Cnot7	C	T	8: 40,963,078 (GRCm39)	R32Q	probably benign	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Glul	T	A	1: 153,782,177 (GRCm39)	Y137*	probably null	Het
Ipo8	A	G	6: 148,700,168 (GRCm39)	Y570H	probably damaging	Het
Kif2b	A	G	11: 91,466,814 (GRCm39)	S490P	probably benign	Het
Kxd1	A	T	8: 70,972,589 (GRCm39)	N33K	probably benign	Het
Man2a2	T	C	7: 80,016,749 (GRCm39)	D355G	probably damaging	Het
Map6	T	C	7: 98,917,314 (GRCm39)	V29A	probably damaging	Het
Mtmr3	T	C	11: 4,435,432 (GRCm39)	D1116G	probably damaging	Het
Or4p23	T	A	2: 88,577,184 (GRCm39)	H16L	probably benign	Het
Or8b52	A	G	9: 38,576,916 (GRCm39)	S75P	probably damaging	Het
Or8d2b	T	C	9: 38,788,604 (GRCm39)	L44P	possibly damaging	Het
Pak1ip1	T	A	13: 41,158,361 (GRCm39)	L78Q	probably damaging	Het
Phf10	C	T	17: 15,174,387 (GRCm39)		probably null	Het
Pikfyve	A	G	1: 65,303,504 (GRCm39)		probably null	Het
Pkd1l3	A	G	8: 110,367,478 (GRCm39)	D1225G	probably damaging	Het
Postn	A	G	3: 54,279,641 (GRCm39)		probably null	Het
Slc22a30	T	C	19: 8,315,232 (GRCm39)		probably null	Het
Specc1l	T	C	10: 75,084,466 (GRCm39)	S730P	probably damaging	Het
Steap2	T	A	5: 5,725,891 (GRCm39)	I378F	possibly damaging	Het
Sult4a1	T	A	15: 83,970,821 (GRCm39)	K195*	probably null	Het
Tgfb1i1	T	A	7: 127,847,589 (GRCm39)		probably null	Het
Thbs4	G	T	13: 92,911,993 (GRCm39)	Q246K	possibly damaging	Het
Tnfsf10	A	G	3: 27,389,698 (GRCm39)	Y253C	probably damaging	Het
Tnpo3	G	T	6: 29,588,042 (GRCm39)	C125*	probably null	Het
Trappc8	A	G	18: 20,979,504 (GRCm39)		probably null	Het
Trpm6	C	T	19: 18,831,112 (GRCm39)	R1326*	probably null	Het
Vmn2r19	A	C	6: 123,293,054 (GRCm39)	E365D	possibly damaging	Het
Vps18	A	G	2: 119,119,543 (GRCm39)	Y8C	probably damaging	Het
Zc3hav1l	A	G	6: 38,270,012 (GRCm39)	V279A	probably benign	Het
Zfp111	T	C	7: 23,902,791 (GRCm39)		probably null	Het
Zfp618	A	T	4: 63,051,478 (GRCm39)	Q753L	probably benign	Het
Zkscan17	A	T	11: 59,394,401 (GRCm39)	C67S	probably damaging	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
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
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'- TCGTTAGCTAGCGTGGACAG -3'
(R):5'- GTTTCAGGTCCTCAGCTCACTG -3'

Sequencing Primer
(F):5'- TAAAGAAGGCTCCCAGGGCTC -3'
(R):5'- AGGTCCTCAGCTCACTGTCTTC -3'

Posted On

2017-08-16