Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Fbxo31'

392489

Institutional Source

Beutler Lab

Gene Symbol

Fbxo31

Ensembl Gene

ENSMUSG00000052934

Gene Name

F-box protein 31

Synonyms

Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5103 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

122276179-122305545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122279101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 462 (D462G)

Ref Sequence

ENSEMBL: ENSMUSP00000057573 (fasta)

Gene Model

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

AlphaFold

Q3TQF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000059018
AA Change: D462G

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

SMART Domains

Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: D462G

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: ENSMUST00000181133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181679

Meta Mutation Damage Score

0.5643

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	probably 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
R2215:Fbxo31	UTSW	8	122,293,050 (GRCm39)	missense	probably benign	0.01
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
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'- TCTAAAGTGCATGCTTCCCC -3'
(R):5'- GCTATGGAAATGGCTGTCTGC -3'

Sequencing Primer
(F):5'- ATGCTTCCCCCACCCGG -3'
(R):5'- CTGGGTCCCTTCTGATGGC -3'

Posted On

2016-06-15