Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Fbxo31'

241095

Institutional Source

Beutler Lab

Gene Symbol

Fbxo31

Ensembl Gene

ENSMUSG00000052934

Gene Name

F-box protein 31

Synonyms

Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik

MMRRC Submission

040217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122276179-122305545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122293050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 112 (I112V)

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: I112V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: I112V

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: I109V

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Blm	A	T	7: 80,149,595 (GRCm39)	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,218,911 (GRCm39)	V166I	probably benign	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gja8	A	T	3: 96,827,218 (GRCm39)	F148Y	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or52n4b	T	C	7: 108,144,095 (GRCm39)	L119P	probably damaging	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 21,182,005 (GRCm39)		probably null	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	possibly damaging	Het

Other mutations in Fbxo31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Fbxo31	APN	8	122,281,069 (GRCm39)	missense	possibly damaging	0.92
IGL02155:Fbxo31	APN	8	122,285,814 (GRCm39)	missense	probably damaging	1.00
IGL02551:Fbxo31	APN	8	122,293,083 (GRCm39)	missense	probably damaging	0.99
IGL03092:Fbxo31	APN	8	122,286,757 (GRCm39)	missense	probably benign
Archive	UTSW	8	122,281,967 (GRCm39)	missense	probably benign
Repository	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R0377:Fbxo31	UTSW	8	122,285,841 (GRCm39)	unclassified	probably benign
R0730:Fbxo31	UTSW	8	122,282,103 (GRCm39)	unclassified	probably benign
R1132:Fbxo31	UTSW	8	122,279,019 (GRCm39)	frame shift	probably null
R1132:Fbxo31	UTSW	8	122,279,015 (GRCm39)	frame shift	probably null
R1626:Fbxo31	UTSW	8	122,286,745 (GRCm39)	missense	probably damaging	1.00
R1796:Fbxo31	UTSW	8	122,287,177 (GRCm39)	nonsense	probably null
R3726:Fbxo31	UTSW	8	122,305,248 (GRCm39)	missense	probably damaging	1.00
R3761:Fbxo31	UTSW	8	122,287,169 (GRCm39)	missense	possibly damaging	0.94
R4646:Fbxo31	UTSW	8	122,286,755 (GRCm39)	missense	probably benign
R4782:Fbxo31	UTSW	8	122,279,180 (GRCm39)	missense	probably damaging	1.00
R4782:Fbxo31	UTSW	8	122,279,178 (GRCm39)	nonsense	probably null
R5103:Fbxo31	UTSW	8	122,279,101 (GRCm39)	missense	probably damaging	1.00
R5715:Fbxo31	UTSW	8	122,305,302 (GRCm39)	missense	probably damaging	1.00
R6347:Fbxo31	UTSW	8	122,305,198 (GRCm39)	missense	possibly damaging	0.69
R6551:Fbxo31	UTSW	8	122,291,443 (GRCm39)	intron	probably benign
R7027:Fbxo31	UTSW	8	122,305,224 (GRCm39)	missense	probably damaging	1.00
R7156:Fbxo31	UTSW	8	122,281,060 (GRCm39)	missense	possibly damaging	0.83
R7271:Fbxo31	UTSW	8	122,305,503 (GRCm39)	unclassified	probably benign
R7594:Fbxo31	UTSW	8	122,279,107 (GRCm39)	missense	probably damaging	1.00
R7860:Fbxo31	UTSW	8	122,291,384 (GRCm39)	splice site	probably null
R8039:Fbxo31	UTSW	8	122,285,794 (GRCm39)	missense	probably damaging	1.00
R8116:Fbxo31	UTSW	8	122,287,127 (GRCm39)	missense	probably damaging	1.00
R8284:Fbxo31	UTSW	8	122,287,181 (GRCm39)	missense	probably benign	0.01
R8726:Fbxo31	UTSW	8	122,282,014 (GRCm39)	nonsense	probably null
R8867:Fbxo31	UTSW	8	122,281,967 (GRCm39)	missense	probably benign
R9081:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9082:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9093:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9094:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9095:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9098:Fbxo31	UTSW	8	122,281,136 (GRCm39)	missense	probably damaging	0.98
R9667:Fbxo31	UTSW	8	122,305,208 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTAACCGTCATGGACTTGAAAGG -3'
(R):5'- TGGACCATAGCAGAGCAGAC -3'

Sequencing Primer
(F):5'- CGTCATGGACTTGAAAGGACTGTATC -3'
(R):5'- CAGGGACTTTGGCTGTGAGC -3'

Posted On

2014-10-15