Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02551:Fbxo31'

298100

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 #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

121549440-121578806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121566344 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 101 (Y101N)

Ref Sequence

ENSEMBL: ENSMUSP00000057573 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059018
AA Change: Y101N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: Y101N

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: 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: Y98N

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly 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
IGL03092:Fbxo31	APN	8	121560018	missense	probably benign
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

Posted On

2015-04-16