Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Fbxo28'

74917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo28

Ensembl Gene

ENSMUSG00000047539

Gene Name

F-box protein 28

Synonyms

5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

182140667-182169171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182144577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000054718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051431] [ENSMUST00000192544] [ENSMUST00000194213] [ENSMUST00000195061]

AlphaFold

Q8BIG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000051431
AA Change: E329G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: E329G

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
Pfam:F-box	63	94	7.8e-6	PFAM
coiled coil region	273	332	N/A	INTRINSIC
low complexity region	335	344	N/A	INTRINSIC
low complexity region	357	368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192544

SMART Domains

Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
Pfam:F-box	62	101	8.7e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193700

Predicted Effect

probably benign
Transcript: ENSMUST00000194213

SMART Domains

Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
Pfam:F-box	63	101	2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195061

SMART Domains

Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:F-box	56	95	1.1e-5	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably damaging	Het

Other mutations in Fbxo28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02936:Fbxo28	APN	1	182,169,093 (GRCm39)	missense	unknown
IGL03269:Fbxo28	APN	1	182,144,583 (GRCm39)	missense	possibly damaging	0.50
R0040:Fbxo28	UTSW	1	182,153,805 (GRCm39)	intron	probably benign
R0394:Fbxo28	UTSW	1	182,144,580 (GRCm39)	missense	probably benign	0.31
R1800:Fbxo28	UTSW	1	182,169,099 (GRCm39)	missense	unknown
R1846:Fbxo28	UTSW	1	182,153,845 (GRCm39)	missense	probably benign	0.02
R1891:Fbxo28	UTSW	1	182,145,389 (GRCm39)	missense	probably benign	0.35
R2113:Fbxo28	UTSW	1	182,157,490 (GRCm39)	missense	probably damaging	0.99
R2698:Fbxo28	UTSW	1	182,144,719 (GRCm39)	missense	probably benign	0.09
R4022:Fbxo28	UTSW	1	182,157,475 (GRCm39)	missense	possibly damaging	0.91
R4952:Fbxo28	UTSW	1	182,153,950 (GRCm39)	missense	probably damaging	1.00
R5167:Fbxo28	UTSW	1	182,145,558 (GRCm39)	missense	possibly damaging	0.71
R6196:Fbxo28	UTSW	1	182,157,454 (GRCm39)	missense	probably damaging	0.99
R6233:Fbxo28	UTSW	1	182,169,073 (GRCm39)	missense	unknown
R6920:Fbxo28	UTSW	1	182,168,986 (GRCm39)	missense	probably benign	0.23
R6935:Fbxo28	UTSW	1	182,169,025 (GRCm39)	missense	unknown
R7557:Fbxo28	UTSW	1	182,169,000 (GRCm39)	missense	unknown
R8906:Fbxo28	UTSW	1	182,144,634 (GRCm39)	missense	probably damaging	1.00
R9183:Fbxo28	UTSW	1	182,157,526 (GRCm39)	missense	possibly damaging	0.50
R9245:Fbxo28	UTSW	1	182,145,566 (GRCm39)	missense	possibly damaging	0.71
Z1176:Fbxo28	UTSW	1	182,145,435 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07