Mutagenetix > Incidental Mutation

Incidental Mutation 'R4431:Fbxo42'

328603

Institutional Source

Beutler Lab

Gene Symbol

Fbxo42

Ensembl Gene

ENSMUSG00000028920

Gene Name

F-box protein 42

Synonyms

6720460I06Rik

MMRRC Submission

041146-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R4431 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140875224-140931373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140927861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 714 (R714S)

Ref Sequence

ENSEMBL: ENSMUSP00000030757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030757]

AlphaFold

Q6PDJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030757
AA Change: R714S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: R714S

Domain	Start	End	E-Value	Type
FBOX	50	90	2.64e-4	SMART
Pfam:Kelch_5	114	159	7.3e-9	PFAM
Pfam:Kelch_4	118	174	6.1e-10	PFAM
Pfam:Kelch_3	130	182	4e-11	PFAM
Pfam:Kelch_5	228	268	8.2e-10	PFAM
Pfam:Kelch_1	231	274	6.3e-8	PFAM
Pfam:Kelch_2	231	277	5.1e-10	PFAM
Pfam:Kelch_3	241	285	2.9e-8	PFAM
low complexity region	363	376	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	508	513	N/A	INTRINSIC
low complexity region	567	595	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

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 FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; 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, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
2510039O18Rik	T	C	4: 148,026,022 (GRCm39)	S181P	probably benign	Het
4930522L14Rik	A	T	5: 109,884,440 (GRCm39)	C473S	possibly damaging	Het
4930523C07Rik	A	T	1: 159,872,149 (GRCm39)		noncoding transcript	Het
Aak1	A	G	6: 86,963,300 (GRCm39)	K910R	unknown	Het
Abca2	A	G	2: 25,332,864 (GRCm39)	D1521G	probably benign	Het
Adamts20	C	A	15: 94,241,924 (GRCm39)	D695Y	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bltp3a	A	G	17: 28,104,905 (GRCm39)	N533S	probably damaging	Het
Bspry	T	A	4: 62,400,904 (GRCm39)	I132N	possibly damaging	Het
Cfap300	A	G	9: 8,027,178 (GRCm39)	V120A	probably damaging	Het
Cfh	T	C	1: 140,064,004 (GRCm39)	Y424C	probably damaging	Het
Chd2	T	C	7: 73,085,709 (GRCm39)	R1642G	possibly damaging	Het
Chrm2	A	G	6: 36,501,097 (GRCm39)	D318G	probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Fmo1	G	A	1: 162,661,281 (GRCm39)	A334V	possibly damaging	Het
Gpr68	A	T	12: 100,865,650 (GRCm39)		probably benign	Het
Gramd4	A	G	15: 86,014,361 (GRCm39)	K345R	probably damaging	Het
Gtpbp1	T	G	15: 79,600,398 (GRCm39)	S444A	probably damaging	Het
Ints12	T	C	3: 132,808,242 (GRCm39)	Y207H	probably damaging	Het
Kat2b-ps	A	T	5: 93,540,443 (GRCm39)		noncoding transcript	Het
Klhl25	T	A	7: 75,515,162 (GRCm39)	F23I	probably damaging	Het
Lamc1	A	G	1: 153,097,274 (GRCm39)	I1590T	probably damaging	Het
Lhfpl4	A	G	6: 113,170,805 (GRCm39)	I127T	possibly damaging	Het
Lrrc71	A	G	3: 87,650,143 (GRCm39)	S286P	possibly damaging	Het
Man1c1	A	T	4: 134,430,329 (GRCm39)	V151D	probably damaging	Het
Mipol1	G	A	12: 57,350,310 (GRCm39)	R36Q	possibly damaging	Het
Nuggc	T	A	14: 65,848,659 (GRCm39)	W187R	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Pkhd1	G	A	1: 20,593,538 (GRCm39)	T1525I	probably damaging	Het
Pomp	A	G	5: 147,812,289 (GRCm39)	E125G	probably damaging	Het
Ptar1	G	T	19: 23,671,695 (GRCm39)	G33C	probably damaging	Het
Ptpn3	A	G	4: 57,235,355 (GRCm39)	S335P	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Shank1	C	T	7: 43,969,076 (GRCm39)	R324*	probably null	Het
Slc12a3	A	T	8: 95,069,713 (GRCm39)	I541F	probably damaging	Het
Slc12a9	G	A	5: 137,319,775 (GRCm39)	P580L	probably benign	Het
Spz1	A	G	13: 92,711,837 (GRCm39)	L213P	probably damaging	Het
Strn	A	G	17: 79,043,891 (GRCm39)	V9A	probably damaging	Het
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trf	T	C	9: 103,089,075 (GRCm39)	N243S	possibly damaging	Het
Ttc3	T	C	16: 94,211,817 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vps13b	A	C	15: 35,770,899 (GRCm39)	Q2114P	probably damaging	Het
Wdfy1	T	A	1: 79,691,583 (GRCm39)	R275*	probably null	Het
Wnt2b	A	G	3: 104,860,256 (GRCm39)	L217S	probably damaging	Het

Other mutations in Fbxo42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Fbxo42	APN	4	140,907,760 (GRCm39)	missense	probably damaging	1.00
IGL02331:Fbxo42	APN	4	140,895,157 (GRCm39)	missense	probably benign	0.08
IGL02989:Fbxo42	APN	4	140,926,845 (GRCm39)	missense	probably damaging	1.00
IGL03047:Fbxo42	UTSW	4	140,926,853 (GRCm39)	missense	possibly damaging	0.92
R0158:Fbxo42	UTSW	4	140,927,640 (GRCm39)	missense	probably benign	0.26
R0295:Fbxo42	UTSW	4	140,927,808 (GRCm39)	missense	probably damaging	1.00
R0671:Fbxo42	UTSW	4	140,922,550 (GRCm39)	missense	probably damaging	1.00
R1321:Fbxo42	UTSW	4	140,895,160 (GRCm39)	missense	probably benign	0.01
R1437:Fbxo42	UTSW	4	140,895,165 (GRCm39)	missense	probably benign	0.00
R1459:Fbxo42	UTSW	4	140,895,073 (GRCm39)	missense	probably benign
R1585:Fbxo42	UTSW	4	140,925,417 (GRCm39)	splice site	probably benign
R1635:Fbxo42	UTSW	4	140,927,840 (GRCm39)	missense	probably damaging	1.00
R2849:Fbxo42	UTSW	4	140,927,821 (GRCm39)	missense	probably damaging	1.00
R4288:Fbxo42	UTSW	4	140,895,207 (GRCm39)	missense	probably damaging	1.00
R4556:Fbxo42	UTSW	4	140,926,321 (GRCm39)	missense	probably damaging	1.00
R4701:Fbxo42	UTSW	4	140,927,120 (GRCm39)	missense	probably benign	0.00
R5071:Fbxo42	UTSW	4	140,926,256 (GRCm39)	missense	probably damaging	1.00
R5072:Fbxo42	UTSW	4	140,926,256 (GRCm39)	missense	probably damaging	1.00
R5249:Fbxo42	UTSW	4	140,926,335 (GRCm39)	missense	probably damaging	1.00
R5796:Fbxo42	UTSW	4	140,927,100 (GRCm39)	missense	probably benign	0.00
R6366:Fbxo42	UTSW	4	140,927,260 (GRCm39)	missense	probably benign	0.01
R7197:Fbxo42	UTSW	4	140,927,396 (GRCm39)	missense	probably benign
R7339:Fbxo42	UTSW	4	140,927,455 (GRCm39)	missense	possibly damaging	0.95
R7468:Fbxo42	UTSW	4	140,926,917 (GRCm39)	missense	possibly damaging	0.95
R7605:Fbxo42	UTSW	4	140,927,129 (GRCm39)	missense	probably benign
R7619:Fbxo42	UTSW	4	140,927,673 (GRCm39)	missense	possibly damaging	0.69
R7780:Fbxo42	UTSW	4	140,921,131 (GRCm39)	critical splice donor site	probably null
R9577:Fbxo42	UTSW	4	140,907,743 (GRCm39)	nonsense	probably null
R9655:Fbxo42	UTSW	4	140,895,171 (GRCm39)	missense	probably damaging	0.99
X0063:Fbxo42	UTSW	4	140,922,592 (GRCm39)	missense	probably benign	0.00
Z1176:Fbxo42	UTSW	4	140,907,845 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTAGACATTAAAGACACCAAGG -3'
(R):5'- ACAGCTGATCTGAACCAGGAC -3'

Sequencing Primer
(F):5'- CCAAGGAGAAGGGCCGAGTC -3'
(R):5'- CTCGCCTTTATTGTAAACAGAGTGC -3'

Posted On

2015-07-21