Mutagenetix > Incidental Mutation

Incidental Mutation 'R4022:Fbxo28'

313276

Institutional Source

Beutler Lab

Gene Symbol

Fbxo28

Ensembl Gene

ENSMUSG00000047539

Gene Name

F-box protein 28

Synonyms

5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik

MMRRC Submission

040956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R4022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182140667-182169171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182157475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 108 (N108S)

Ref Sequence

ENSEMBL: ENSMUSP00000141772 (fasta)

Gene Model

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

AlphaFold

Q8BIG4

Predicted Effect

probably benign
Transcript: ENSMUST00000051431
AA Change: N114S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: N114S

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
AA Change: N114S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539
AA Change: N114S

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: N114S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
AA Change: N114S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195061
AA Change: N108S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539
AA Change: N108S

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

0.0585

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	A	2: 26,733,812 (GRCm39)	Y131F	probably damaging	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Ago3	T	A	4: 126,262,386 (GRCm39)	N388I	probably benign	Het
Arfgef2	G	T	2: 166,715,865 (GRCm39)	V1385L	probably benign	Het
Camk2a	A	T	18: 61,097,000 (GRCm39)	K28*	probably null	Het
Ccdc180	T	A	4: 45,904,560 (GRCm39)	Y385*	probably null	Het
Cd209g	A	T	8: 4,185,955 (GRCm39)	Q46L	possibly damaging	Het
Cdh22	T	C	2: 164,999,173 (GRCm39)	T220A	probably benign	Het
Cltc	A	T	11: 86,611,174 (GRCm39)	C562S	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dhx30	T	C	9: 109,913,465 (GRCm39)	D1223G	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Erbb2	T	G	11: 98,326,123 (GRCm39)	C966W	probably benign	Het
Exoc1	C	T	5: 76,697,417 (GRCm39)	T405I	possibly damaging	Het
Fhdc1	T	C	3: 84,352,409 (GRCm39)	E157G	probably benign	Het
Gstcd	C	T	3: 132,787,829 (GRCm39)	V290M	probably damaging	Het
Hps3	A	G	3: 20,089,425 (GRCm39)	V2A	possibly damaging	Het
Ilrun	T	C	17: 28,005,236 (GRCm39)	E107G	probably damaging	Het
Itsn2	G	A	12: 4,674,927 (GRCm39)	R23H	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lax1	C	T	1: 133,610,774 (GRCm39)	G105S	probably benign	Het
Lin7c	G	T	2: 109,726,790 (GRCm39)		probably null	Het
Lrrn2	T	C	1: 132,866,852 (GRCm39)	V639A	probably benign	Het
Luzp1	T	C	4: 136,269,504 (GRCm39)	S576P	probably benign	Het
Mast4	G	T	13: 102,990,377 (GRCm39)	A48E	probably damaging	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Megf8	T	C	7: 25,037,200 (GRCm39)	V700A	probably damaging	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Myh2	G	T	11: 67,070,230 (GRCm39)	E421*	probably null	Het
Or12d2	T	A	17: 37,625,165 (GRCm39)	I37L	probably benign	Het
Or5k17	T	C	16: 58,746,483 (GRCm39)	I150M	possibly damaging	Het
Pecam1	T	C	11: 106,545,986 (GRCm39)	N693D	probably benign	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prune2	A	G	19: 16,977,384 (GRCm39)	T40A	probably damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Reln	T	C	5: 22,432,628 (GRCm39)	Q124R	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sall3	T	A	18: 81,013,055 (GRCm39)	E1127V	probably benign	Het
Sertad3	A	G	7: 27,176,120 (GRCm39)	N185D	probably damaging	Het
Sox1	A	G	8: 12,446,719 (GRCm39)	Y120C	probably damaging	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Spart	G	T	3: 55,025,157 (GRCm39)	V251L	probably damaging	Het
Stard9	A	G	2: 120,534,636 (GRCm39)	E3631G	probably benign	Het
Syde2	A	G	3: 145,721,480 (GRCm39)	T848A	probably benign	Het
Tmem11	T	C	11: 60,756,154 (GRCm39)	D12G	possibly damaging	Het
Trim28	T	C	7: 12,762,485 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,948 (GRCm39)	V49E	probably damaging	Het
Tspan1	C	T	4: 116,024,232 (GRCm39)	M10I	probably benign	Het
Uncx	A	T	5: 139,532,444 (GRCm39)	T170S	probably damaging	Het
Usp24	T	C	4: 106,236,421 (GRCm39)		probably benign	Het
Vmn1r84	T	C	7: 12,095,857 (GRCm39)	I267V	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	Het

Other mutations in Fbxo28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Fbxo28	APN	1	182,144,577 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- AGATAGCATTTATTGTGACGGGATG -3'
(R):5'- AGGGACTCAGCTTAGACAGTG -3'

Sequencing Primer
(F):5'- GACGGGATGTTCTTTGCTATAAAG -3'
(R):5'- CAGCTTAGACAGTGTTCTGGGAAC -3'

Posted On

2015-04-30