Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Fbxo31'

418421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo31

Ensembl Gene

ENSMUSG00000052934

Gene Name

F-box protein 31

Synonyms

1110003O08Rik, Fbx14, Fbxo14, 2310046N15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

121549440-121578806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121560018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 174 (F174L)

Ref Sequence

ENSEMBL: ENSMUSP00000057573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059018] [ENSMUST00000127664]

AlphaFold

Q3TQF0

Predicted Effect

probably benign
Transcript: ENSMUST00000059018
AA Change: F174L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: F174L

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	25	42	N/A	INTRINSIC
FBOX	56	96	3.45e-8	SMART
low complexity region	358	379	N/A	INTRINSIC
low complexity region	385	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181663

SMART Domains

Protein: ENSMUSP00000137907
Gene: ENSMUSG00000052934

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	25	42	N/A	INTRINSIC
FBOX	56	96	3.45e-8	SMART
transmembrane domain	156	178	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000212985
AA Change: F200L

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 is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in Fbxo31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Fbxo31	APN	8	121554330	missense	possibly damaging	0.92
IGL02155:Fbxo31	APN	8	121559075	missense	probably damaging	1.00
IGL02551:Fbxo31	APN	8	121566344	missense	probably damaging	0.99
R0377:Fbxo31	UTSW	8	121559102	unclassified	probably benign
R0730:Fbxo31	UTSW	8	121555364	unclassified	probably benign
R1132:Fbxo31	UTSW	8	121552276	frame shift	probably null
R1132:Fbxo31	UTSW	8	121552280	frame shift	probably null
R1626:Fbxo31	UTSW	8	121560006	missense	probably damaging	1.00
R1796:Fbxo31	UTSW	8	121560438	nonsense	probably null
R2215:Fbxo31	UTSW	8	121566311	missense	probably benign	0.01
R3726:Fbxo31	UTSW	8	121578509	missense	probably damaging	1.00
R3761:Fbxo31	UTSW	8	121560430	missense	possibly damaging	0.94
R4646:Fbxo31	UTSW	8	121560016	missense	probably benign
R4782:Fbxo31	UTSW	8	121552439	nonsense	probably null
R4782:Fbxo31	UTSW	8	121552441	missense	probably damaging	1.00
R5103:Fbxo31	UTSW	8	121552362	missense	probably damaging	1.00
R5715:Fbxo31	UTSW	8	121578563	missense	probably damaging	1.00
R6347:Fbxo31	UTSW	8	121578459	missense	possibly damaging	0.69
R6551:Fbxo31	UTSW	8	121564704	intron	probably benign
R7027:Fbxo31	UTSW	8	121578485	missense	probably damaging	1.00
R7156:Fbxo31	UTSW	8	121554321	missense	possibly damaging	0.83
R7271:Fbxo31	UTSW	8	121578764	unclassified	probably benign
R7594:Fbxo31	UTSW	8	121552368	missense	probably damaging	1.00
R7860:Fbxo31	UTSW	8	121564645	splice site	probably null
R8039:Fbxo31	UTSW	8	121559055	missense	probably damaging	1.00
R8116:Fbxo31	UTSW	8	121560388	missense	probably damaging	1.00
R8284:Fbxo31	UTSW	8	121560442	missense	probably benign	0.01
R8726:Fbxo31	UTSW	8	121555275	nonsense	probably null
R8867:Fbxo31	UTSW	8	121555228	missense	probably benign
R9081:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98
R9082:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98
R9093:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98
R9094:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98
R9095:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98
R9098:Fbxo31	UTSW	8	121554397	missense	probably damaging	0.98

Posted On

2016-08-02