Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Fbxo6'

45552

Institutional Source

Beutler Lab

Gene Symbol

Fbxo6

Ensembl Gene

ENSMUSG00000055401

Gene Name

F-box protein 6

Synonyms

Fbxo6b, FBG2, Fbs2, Fbx6b

MMRRC Submission

038748-MU

Accession Numbers

Essential gene?

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

Stock #

R0556 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148230173-148236592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148230632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 210 (T210N)

Ref Sequence

ENSEMBL: ENSMUSP00000120801 (fasta)

Gene Model

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

AlphaFold

Q9QZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030858
AA Change: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
AA Change: T210N

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: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
AA Change: T210N

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: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
AA Change: T210N

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: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
AA Change: T210N

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: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
AA Change: T210N

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: T210N

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

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
AA Change: T210N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152098
AA Change: T210N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
AA Change: T210N

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

Meta Mutation Damage Score

0.5194

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,213 (GRCm39)	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,280,482 (GRCm39)		probably benign	Het
Acad11	A	G	9: 103,992,501 (GRCm39)	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,611,842 (GRCm39)	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,854,487 (GRCm39)	T112M	probably damaging	Het
Bms1	A	G	6: 118,390,140 (GRCm39)	Y227H	probably damaging	Het
Cab39	A	G	1: 85,763,212 (GRCm39)		probably benign	Het
Ccn3	A	T	15: 54,612,563 (GRCm39)	T191S	probably damaging	Het
Ccno	T	C	13: 113,124,820 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,610,270 (GRCm39)		probably benign	Het
Cd101	A	C	3: 100,927,970 (GRCm39)	I37S	probably damaging	Het
Ces1a	T	C	8: 93,771,740 (GRCm39)	H19R	probably benign	Het
Clec16a	A	G	16: 10,456,649 (GRCm39)		probably null	Het
Cntnap1	T	C	11: 101,074,822 (GRCm39)	F831S	probably benign	Het
Col24a1	A	G	3: 145,020,489 (GRCm39)	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,347,564 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,693,171 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,392,790 (GRCm39)	M145I	probably benign	Het
Ddx54	T	A	5: 120,757,719 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,833,426 (GRCm39)	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,494,544 (GRCm39)	Y127F	probably damaging	Het
Erap1	T	A	13: 74,808,444 (GRCm39)	V52E	probably damaging	Het
Fcgbpl1	C	T	7: 27,858,803 (GRCm39)	H2308Y	probably benign	Het
Garre1	T	C	7: 33,939,222 (GRCm39)	T222A	probably damaging	Het
Gnat3	T	G	5: 18,224,596 (GRCm39)	V332G	probably damaging	Het
Ift22	T	A	5: 136,940,145 (GRCm39)		probably null	Het
Igkv4-71	A	G	6: 69,220,171 (GRCm39)	C109R	probably damaging	Het
Igsf10	A	G	3: 59,236,296 (GRCm39)	L1295P	probably benign	Het
Itga4	T	C	2: 79,155,983 (GRCm39)	I983T	probably benign	Het
Lhcgr	A	T	17: 89,079,491 (GRCm39)	V65D	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Morc2a	T	C	11: 3,631,809 (GRCm39)		probably null	Het
Morc2b	A	T	17: 33,356,812 (GRCm39)	M320K	probably benign	Het
Ms4a18	C	A	19: 10,991,065 (GRCm39)	V10F	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Mtor	A	G	4: 148,553,837 (GRCm39)	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,457,852 (GRCm39)	Y121C	probably damaging	Het
Or11g27	T	C	14: 50,771,381 (GRCm39)	S171P	probably benign	Het
Or4a66	A	C	2: 88,531,115 (GRCm39)	V186G	possibly damaging	Het
Or8b53	A	T	9: 38,667,041 (GRCm39)	D19V	possibly damaging	Het
Plcd3	G	A	11: 102,968,632 (GRCm39)	T353M	probably damaging	Het
Pnpla7	T	A	2: 24,942,313 (GRCm39)		probably null	Het
Ppp1r12b	T	A	1: 134,705,060 (GRCm39)	Y876F	probably damaging	Het
Prelid2	T	A	18: 42,084,245 (GRCm39)		probably benign	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Prr12	A	G	7: 44,680,093 (GRCm39)	L1887P	unknown	Het
Ptk2b	A	G	14: 66,409,593 (GRCm39)	L481P	probably damaging	Het
Rgl3	T	A	9: 21,887,140 (GRCm39)	K531*	probably null	Het
Sacs	A	G	14: 61,421,407 (GRCm39)	I115V	probably damaging	Het
Septin3	G	T	15: 82,167,966 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,673,160 (GRCm39)	S503P	probably benign	Het
Stard9	T	C	2: 120,529,404 (GRCm39)	V1887A	probably benign	Het
Synj2	T	A	17: 6,088,230 (GRCm39)	L1427*	probably null	Het
Taar2	A	G	10: 23,816,793 (GRCm39)	D111G	probably damaging	Het
Tlr5	A	G	1: 182,801,716 (GRCm39)	N340S	probably damaging	Het
Tmco2	A	G	4: 120,966,314 (GRCm39)	L14P	probably damaging	Het
Tnik	A	T	3: 28,679,367 (GRCm39)	D746V	possibly damaging	Het
Trip11	C	A	12: 101,850,777 (GRCm39)	E811*	probably null	Het
Ttll9	T	C	2: 152,815,526 (GRCm39)		probably null	Het
Uchl1	A	G	5: 66,839,824 (GRCm39)	E122G	probably benign	Het
Vwa3b	C	A	1: 37,203,566 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,452,482 (GRCm39)	N1533S	unknown	Het
Zfp687	G	T	3: 94,917,719 (GRCm39)	D684E	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
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

Predicted Primers

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

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

Posted On

2013-06-11