Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Fbxo28'

207698

Institutional Source

Beutler Lab

Gene Symbol

Fbxo28

Ensembl Gene

ENSMUSG00000047539

Gene Name

F-box protein 28

Synonyms

D1Ertd578e, 4833428J17Rik, Fbx28, 5730505P19Rik

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182313102-182341629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182326280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 164 (N164D)

Ref Sequence

ENSEMBL: ENSMUSP00000141219 (fasta)

Gene Model

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

AlphaFold

Q8BIG4

Predicted Effect

probably benign
Transcript: ENSMUST00000051431
AA Change: N164D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: N164D

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

probably benign
Transcript: ENSMUST00000194213
AA Change: N164D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
AA Change: N164D

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

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,963	L102I	probably damaging	Het
2900092C05Rik	G	A	7: 12,512,882	R63Q	probably benign	Het
Adamts20	A	T	15: 94,345,990	C619S	probably damaging	Het
Alx1	T	C	10: 103,025,304	D121G	possibly damaging	Het
Anks3	A	C	16: 4,953,884	M215R	probably benign	Het
Anxa4	T	A	6: 86,741,911		probably null	Het
Arhgef25	A	G	10: 127,185,864	V222A	probably damaging	Het
Bglap2	A	G	3: 88,378,625		probably benign	Het
Cars2	A	G	8: 11,514,674	V22A	probably benign	Het
Cenpe	T	A	3: 135,239,845	I1040N	probably damaging	Het
Cep170	C	T	1: 176,755,769	D1015N	probably damaging	Het
Chia1	T	A	3: 106,130,865	I359N	probably damaging	Het
Crot	A	T	5: 8,988,248	V93E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnmbp	T	C	19: 43,902,747	I194V	probably damaging	Het
Dock4	T	A	12: 40,733,268	C734S	probably benign	Het
Eif4e3	T	C	6: 99,640,701	S70G	probably benign	Het
Entpd3	G	A	9: 120,558,375	D213N	probably benign	Het
Ern2	T	G	7: 122,176,536	Y445S	probably benign	Het
Fasn	A	G	11: 120,813,307	S1429P	probably benign	Het
Fat4	A	G	3: 38,982,383	I3395V	probably benign	Het
Fbln2	C	A	6: 91,256,417	Q628K	possibly damaging	Het
Fez1	T	C	9: 36,867,767	S247P	probably damaging	Het
Gars	A	G	6: 55,063,168	D360G	probably benign	Het
Gcfc2	A	T	6: 81,956,892	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,610,542		probably null	Het
Glp1r	A	G	17: 30,929,935		probably null	Het
Hspa14	T	C	2: 3,491,660	D356G	possibly damaging	Het
Htt	T	A	5: 34,848,944	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,499,486		probably benign	Het
Krt36	C	A	11: 100,105,548	G17C	probably damaging	Het
Lama2	T	C	10: 27,212,096	E895G	probably damaging	Het
Lamb2	G	A	9: 108,487,387	R1142H	probably benign	Het
Lhcgr	C	T	17: 88,765,147		probably null	Het
Lpin2	A	G	17: 71,225,069	T140A	probably benign	Het
Metap1	A	G	3: 138,480,682		probably benign	Het
Mpeg1	T	C	19: 12,463,122	V648A	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369	I749N	probably benign	Het
N4bp2	T	C	5: 65,808,519	F1304L	probably damaging	Het
Nup85	A	G	11: 115,568,413	E114G	probably benign	Het
Olfr1258	A	G	2: 89,930,666	T286A	possibly damaging	Het
Olfr1415	A	T	1: 92,491,100	Y218*	probably null	Het
Olfr448	A	G	6: 42,897,320	S290G	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Parp2	T	A	14: 50,815,386	C145*	probably null	Het
Plpp6	T	C	19: 28,964,280	S94P	probably benign	Het
Polr1a	T	C	6: 71,976,188	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,738,209	V860E	probably damaging	Het
Ppp1r17	A	G	6: 56,022,427	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,602,848	W133R	probably damaging	Het
Ptk7	A	G	17: 46,576,490		probably null	Het
Rad23b	C	T	4: 55,383,637	Q290*	probably null	Het
Rorb	C	T	19: 18,955,081	E369K	probably damaging	Het
Rusc1	T	C	3: 89,092,145	D110G	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,664,149	P105L	probably damaging	Het
Stt3a	C	T	9: 36,763,385	R34H	probably damaging	Het
Sufu	T	A	19: 46,450,947	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,613,256	R289Q	probably damaging	Het
Tph1	A	T	7: 46,660,439	S130T	probably damaging	Het
Ttn	A	G	2: 76,945,686	S1671P	probably damaging	Het
Usp4	A	G	9: 108,372,736	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,036,428	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,359,383	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,789,122	P97S	probably damaging	Het
Zbtb40	T	C	4: 137,007,839	D297G	probably benign	Het
Zfp174	C	A	16: 3,854,735	Q383K	probably benign	Het
Zfp318	T	A	17: 46,413,666	D2198E	probably benign	Het
Zfp628	C	T	7: 4,920,867	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,615,463	N1695K	probably damaging	Het

Other mutations in Fbxo28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Fbxo28	APN	1	182317012	missense	probably damaging	0.96
IGL02936:Fbxo28	APN	1	182341528	missense	unknown
IGL03269:Fbxo28	APN	1	182317018	missense	possibly damaging	0.50
R0040:Fbxo28	UTSW	1	182326240	intron	probably benign
R0394:Fbxo28	UTSW	1	182317015	missense	probably benign	0.31
R1800:Fbxo28	UTSW	1	182341534	missense	unknown
R1891:Fbxo28	UTSW	1	182317824	missense	probably benign	0.35
R2113:Fbxo28	UTSW	1	182329925	missense	probably damaging	0.99
R2698:Fbxo28	UTSW	1	182317154	missense	probably benign	0.09
R4022:Fbxo28	UTSW	1	182329910	missense	possibly damaging	0.91
R4952:Fbxo28	UTSW	1	182326385	missense	probably damaging	1.00
R5167:Fbxo28	UTSW	1	182317993	missense	possibly damaging	0.71
R6196:Fbxo28	UTSW	1	182329889	missense	probably damaging	0.99
R6233:Fbxo28	UTSW	1	182341508	missense	unknown
R6920:Fbxo28	UTSW	1	182341421	missense	probably benign	0.23
R6935:Fbxo28	UTSW	1	182341460	missense	unknown
R7557:Fbxo28	UTSW	1	182341435	missense	unknown
R8906:Fbxo28	UTSW	1	182317069	missense	probably damaging	1.00
R9183:Fbxo28	UTSW	1	182329961	missense	possibly damaging	0.50
R9245:Fbxo28	UTSW	1	182318001	missense	possibly damaging	0.71
Z1176:Fbxo28	UTSW	1	182317870	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGAACCCTTACCAAGACTTTCAC -3'
(R):5'- TGCTGCTCAGATTAGCTAACAG -3'

Sequencing Primer
(F):5'- ATGTTGGGATCACATGAATGATAC -3'
(R):5'- GCTCAGATTAGCTAACAGTTTACCC -3'

Posted On

2014-06-23