Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:Fbxo43'

633870

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

067593-MU

Accession Numbers

Essential gene?

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

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36150206-36165030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36151917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 600 (F600S)

Ref Sequence

ENSEMBL: ENSMUSP00000054125 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058643
AA Change: F600S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: F600S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Cblb	T	A	16: 51,986,365 (GRCm39)	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
H2-D1	A	G	17: 35,485,741 (GRCm39)	T89A		Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,392,957 (GRCm39)	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Safb	A	G	17: 56,892,286 (GRCm39)	E42G	unknown	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,500,877 (GRCm39)	S69P	possibly damaging	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	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
R7536:Fbxo43	UTSW	15	36,161,997 (GRCm39)	missense	probably benign
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
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'- ACGTCTGTCATCAATGGGAAG -3'
(R):5'- TTGAAATGAAGTGACTGAGTCCC -3'

Sequencing Primer
(F):5'- CTGTCATCAATGGGAAGATTTGC -3'
(R):5'- TCCCTAGAAGACTGAGTGTGC -3'

Posted On

2020-07-13