Mutagenetix > Incidental Mutation

Incidental Mutation 'R7536:Fbxo43'

583614

Institutional Source

Beutler Lab

Gene Symbol

Fbxo43

Ensembl Gene

ENSMUSG00000048230

Gene Name

F-box protein 43

Synonyms

Emi2, early mitotic inhibitor 2, endogenous meiotic inhibitor 2, XErp1 homolog, 4930533G20Rik

MMRRC Submission

045608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R7536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36150206-36165030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36161997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 403 (D403E)

Ref Sequence

ENSEMBL: ENSMUSP00000054125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058643] [ENSMUST00000227793]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000058643
AA Change: D403E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: D403E

Domain	Start	End	E-Value	Type
low complexity region	88	100	N/A	INTRINSIC
low complexity region	393	406	N/A	INTRINSIC
Blast:FBOX	439	479	2e-14	BLAST
low complexity region	502	515	N/A	INTRINSIC
IBR	555	614	1.46e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227793

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 FBXO43, 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
AI597479	C	G	1: 43,150,505 (GRCm39)	A205G	possibly damaging	Het
Akr1c14	T	A	13: 4,113,690 (GRCm39)	V74E	probably damaging	Het
Armh4	G	T	14: 50,011,703 (GRCm39)		probably null	Het
Bbs9	A	T	9: 22,582,096 (GRCm39)	Q596L	probably damaging	Het
Bub3	A	G	7: 131,170,432 (GRCm39)	D318G	probably damaging	Het
Cela1	A	G	15: 100,573,245 (GRCm39)	V248A	probably damaging	Het
Cer1	C	A	4: 82,803,205 (GRCm39)	R39L	probably benign	Het
Clec16a	A	G	16: 10,456,708 (GRCm39)	T624A	possibly damaging	Het
Coro1c	C	A	5: 113,983,350 (GRCm39)	G393W	probably damaging	Het
Crym	A	G	7: 119,800,331 (GRCm39)	L97P	probably damaging	Het
Cyp2a5	T	G	7: 26,539,903 (GRCm39)	L317R	probably damaging	Het
Cyp2j6	C	A	4: 96,423,774 (GRCm39)	G198V	probably damaging	Het
Dnajb6	A	G	5: 29,962,804 (GRCm39)	E238G	possibly damaging	Het
Dnhd1	C	A	7: 105,358,768 (GRCm39)	T3419K	probably damaging	Het
Dpep3	A	T	8: 106,704,032 (GRCm39)	I262K	probably damaging	Het
Dscam	T	G	16: 96,442,226 (GRCm39)		probably null	Het
Farsb	A	G	1: 78,420,391 (GRCm39)	V500A	possibly damaging	Het
Fbxl20	A	T	11: 97,986,209 (GRCm39)	C136*	probably null	Het
Frem1	A	G	4: 82,874,432 (GRCm39)	S1397P	probably damaging	Het
Fut8	A	G	12: 77,521,852 (GRCm39)	Y497C	probably damaging	Het
Gbp3	A	T	3: 142,272,156 (GRCm39)	R219S	probably damaging	Het
Gm14295	T	A	2: 176,502,722 (GRCm39)	H737Q	possibly damaging	Het
Gpr89	C	A	3: 96,798,209 (GRCm39)	R149L	probably damaging	Het
Greb1	A	T	12: 16,732,186 (GRCm39)	Y1592N	probably damaging	Het
Gria4	A	C	9: 4,464,298 (GRCm39)	Y555D	probably damaging	Het
Hspa1b	T	A	17: 35,177,851 (GRCm39)	T45S	possibly damaging	Het
Kif5b	A	T	18: 6,216,235 (GRCm39)	N571K	probably benign	Het
Mapkbp1	T	A	2: 119,849,066 (GRCm39)	M694K	probably damaging	Het
Med24	G	A	11: 98,603,447 (GRCm39)	H439Y	possibly damaging	Het
Mgl2	G	T	11: 70,027,833 (GRCm39)	R347L	probably benign	Het
Mms22l	T	A	4: 24,581,240 (GRCm39)	L850Q	probably damaging	Het
Mrpl51	T	C	6: 125,169,530 (GRCm39)	V44A	possibly damaging	Het
Mylk3	T	C	8: 86,080,233 (GRCm39)	I485V	probably benign	Het
Or10ag54	C	T	2: 87,099,943 (GRCm39)	Q273*	probably null	Het
Or7e174	C	A	9: 20,012,826 (GRCm39)	T257K	probably damaging	Het
Pde4dip	A	G	3: 97,664,560 (GRCm39)	L434P	probably damaging	Het
Pla2g4a	T	C	1: 149,755,768 (GRCm39)	Y223C	probably damaging	Het
Plcl1	C	T	1: 55,752,640 (GRCm39)	Q995*	probably null	Het
Pls1	C	T	9: 95,644,110 (GRCm39)	C462Y	probably damaging	Het
Ppp6r3	T	C	19: 3,557,341 (GRCm39)	E249G	possibly damaging	Het
Prb1a	T	A	6: 132,184,184 (GRCm39)	N483I	unknown	Het
R3hdm1	A	G	1: 128,109,948 (GRCm39)		probably null	Het
Rasgrp3	T	C	17: 75,821,128 (GRCm39)	F445S	probably damaging	Het
Rnf39	G	T	17: 37,254,009 (GRCm39)	L10F	probably damaging	Het
Rnh1	T	C	7: 140,740,725 (GRCm39)	D410G	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bp2	A	G	5: 34,700,901 (GRCm39)	T35A	probably benign	Het
Skint6	T	A	4: 112,668,744 (GRCm39)		probably null	Het
Slc13a1	A	T	6: 24,100,330 (GRCm39)	D384E	probably damaging	Het
Slc27a6	A	G	18: 58,689,698 (GRCm39)	T55A	probably damaging	Het
Slc46a2	G	A	4: 59,914,141 (GRCm39)	Q261*	probably null	Het
Spata31d1e	C	T	13: 59,889,556 (GRCm39)	V755M	probably damaging	Het
St7	C	G	6: 17,886,019 (GRCm39)	P327R	probably damaging	Het
Stx1a	T	C	5: 135,078,694 (GRCm39)	I268T	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tmem145	T	C	7: 25,007,294 (GRCm39)	S171P	probably damaging	Het
Traf2	A	G	2: 25,427,118 (GRCm39)	Y78H	possibly damaging	Het
Tsc22d1	A	G	14: 76,742,203 (GRCm39)	Y16C	probably benign	Het
Ttc39b	A	T	4: 83,158,215 (GRCm39)	Y503*	probably null	Het
Ttn	T	C	2: 76,547,681 (GRCm39)	D32163G	probably benign	Het
Uba6	A	T	5: 86,272,191 (GRCm39)	S833T	probably benign	Het
Wdtc1	A	G	4: 133,022,561 (GRCm39)	L595P	probably damaging	Het

Other mutations in Fbxo43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Fbxo43	APN	15	36,151,972 (GRCm39)	missense	probably damaging	1.00
IGL02212:Fbxo43	APN	15	36,151,957 (GRCm39)	missense	probably damaging	0.99
IGL02246:Fbxo43	APN	15	36,162,842 (GRCm39)	missense	probably benign	0.06
IGL02576:Fbxo43	APN	15	36,152,321 (GRCm39)	missense	probably benign	0.01
FR4304:Fbxo43	UTSW	15	36,152,246 (GRCm39)	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36,152,243 (GRCm39)	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36,152,240 (GRCm39)	small insertion	probably benign
FR4548:Fbxo43	UTSW	15	36,152,244 (GRCm39)	nonsense	probably null
FR4589:Fbxo43	UTSW	15	36,152,247 (GRCm39)	small insertion	probably benign
FR4589:Fbxo43	UTSW	15	36,152,246 (GRCm39)	small insertion	probably benign
R0193:Fbxo43	UTSW	15	36,162,029 (GRCm39)	missense	probably benign	0.29
R0244:Fbxo43	UTSW	15	36,161,939 (GRCm39)	missense	probably damaging	1.00
R0322:Fbxo43	UTSW	15	36,152,338 (GRCm39)	splice site	probably benign
R0409:Fbxo43	UTSW	15	36,162,503 (GRCm39)	missense	probably benign	0.01
R0827:Fbxo43	UTSW	15	36,163,115 (GRCm39)	missense	possibly damaging	0.90
R1562:Fbxo43	UTSW	15	36,163,162 (GRCm39)	missense	probably damaging	0.99
R1880:Fbxo43	UTSW	15	36,162,661 (GRCm39)	missense	probably benign	0.02
R2051:Fbxo43	UTSW	15	36,162,278 (GRCm39)	missense	probably damaging	1.00
R3792:Fbxo43	UTSW	15	36,163,005 (GRCm39)	missense	probably benign	0.03
R3875:Fbxo43	UTSW	15	36,162,249 (GRCm39)	missense	probably benign
R3876:Fbxo43	UTSW	15	36,152,258 (GRCm39)	missense	probably damaging	1.00
R5023:Fbxo43	UTSW	15	36,163,075 (GRCm39)	missense	probably benign	0.13
R5633:Fbxo43	UTSW	15	36,162,241 (GRCm39)	splice site	probably null
R5997:Fbxo43	UTSW	15	36,162,239 (GRCm39)	missense	probably damaging	1.00
R6589:Fbxo43	UTSW	15	36,162,686 (GRCm39)	missense	probably damaging	0.99
R7238:Fbxo43	UTSW	15	36,151,971 (GRCm39)	missense	probably damaging	1.00
R7689:Fbxo43	UTSW	15	36,163,201 (GRCm39)	missense	probably benign	0.00
R7780:Fbxo43	UTSW	15	36,162,358 (GRCm39)	missense	probably damaging	1.00
R8167:Fbxo43	UTSW	15	36,151,917 (GRCm39)	missense	probably damaging	1.00
R8184:Fbxo43	UTSW	15	36,162,485 (GRCm39)	missense	possibly damaging	0.53
R8306:Fbxo43	UTSW	15	36,162,013 (GRCm39)	missense	probably benign	0.01
R8393:Fbxo43	UTSW	15	36,162,494 (GRCm39)	missense	probably benign	0.06
R9099:Fbxo43	UTSW	15	36,162,619 (GRCm39)	missense	possibly damaging	0.56
R9658:Fbxo43	UTSW	15	36,152,282 (GRCm39)	missense	probably damaging	1.00
X0025:Fbxo43	UTSW	15	36,152,306 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGGTCATTTAAGCTTCCTC -3'
(R):5'- CAGACGGTCCATCCTAACTC -3'

Sequencing Primer
(F):5'- AGCTTCCTCTGATATAGTGTAAGAC -3'
(R):5'- GGTCCATCCTAACTCTGATTCAGGTG -3'

Posted On

2019-10-17