Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Fbxo18'

43237

Institutional Source

Beutler Lab

Gene Symbol

Fbxo18

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box protein 18

Synonyms

Fbx18

MMRRC Submission

038679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

11742573-11777582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11758419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 475 (Y475H)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071564] [ENSMUST00000131893]

AlphaFold

Q8K2I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071564
AA Change: Y475H

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

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: Y475H

Domain	Start	End	E-Value	Type
FBOX	213	256	3.94e-3	SMART
Pfam:UvrD-helicase	626	692	8e-10	PFAM
Pfam:UvrD_C	862	935	1.7e-12	PFAM
Pfam:UvrD_C_2	867	931	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123723

Predicted Effect

probably benign
Transcript: ENSMUST00000131893

SMART Domains

Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594

Domain	Start	End	E-Value	Type
SCOP:d1pjr_1	63	141	5e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192171

Meta Mutation Damage Score

0.4615

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,332,145	V269A	probably benign	Het
Acsl1	G	A	8: 46,531,072	G543R	probably damaging	Het
Adam18	T	C	8: 24,651,822	N244D	probably benign	Het
Adgra3	C	T	5: 49,990,265	V478M	probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Arhgef10	A	T	8: 14,991,070	E723V	probably damaging	Het
Arid3a	C	A	10: 79,951,294	N519K	possibly damaging	Het
Atrn	T	A	2: 130,999,165	Y1162*	probably null	Het
Cacng5	T	A	11: 107,877,951	N172Y	probably benign	Het
Cct8	C	T	16: 87,487,706	V198M	probably damaging	Het
Cep192	G	A	18: 67,858,018	S1857N	probably damaging	Het
Cherp	A	T	8: 72,463,147	D657E	possibly damaging	Het
Clca2	T	G	3: 145,090,849	D199A	probably damaging	Het
Cops7b	A	G	1: 86,605,076	T219A	probably benign	Het
Crb1	C	T	1: 139,198,614	M1392I	probably damaging	Het
Csf3r	A	C	4: 126,043,823	E833D	probably damaging	Het
Cutc	A	G	19: 43,768,216	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,463,005	L17P	probably damaging	Het
D430042O09Rik	T	C	7: 125,843,346	L809S	probably benign	Het
D5Ertd615e	T	A	5: 45,163,454		noncoding transcript	Het
Ddx60	G	T	8: 61,969,657	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,520,860	T268I	probably damaging	Het
Dgke	T	C	11: 89,052,470	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,855,687		probably benign	Het
Dll3	A	G	7: 28,301,549	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,714,941		probably null	Het
Duox1	T	C	2: 122,346,380	F1461L	probably damaging	Het
Enpep	A	G	3: 129,312,674	V301A	possibly damaging	Het
Eny2	T	A	15: 44,435,604		probably null	Het
Esr1	A	G	10: 4,997,911	D488G	probably damaging	Het
Ets1	A	G	9: 32,730,180	K110E	probably damaging	Het
Eya2	T	A	2: 165,715,956	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,472,688	D223A	possibly damaging	Het
Fbxo39	T	C	11: 72,317,593	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,415,914	V23A	probably damaging	Het
Foxp3	A	G	X: 7,587,344	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,483,708	F250S	probably damaging	Het
Gaa	A	G	11: 119,281,236	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,139,551	V816A	probably benign	Het
Glb1l3	T	A	9: 26,829,093	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,264,968	E101G	possibly damaging	Het
Hydin	A	C	8: 110,599,088	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683	Y29C	probably damaging	Het
Ints7	T	A	1: 191,614,554		probably null	Het
Iqub	T	C	6: 24,505,810	E33G	probably benign	Het
Itgb1bp2	T	A	X: 101,449,200	C10S	probably damaging	Het
Kcnd1	T	A	X: 7,831,222	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,452,640	L135P	probably damaging	Het
Ksr1	T	C	11: 79,025,283	D574G	probably damaging	Het
Lama5	C	T	2: 180,184,457	R2331H	probably benign	Het
Larp1	C	A	11: 58,042,820	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,534,552		probably benign	Het
Lmbrd1	T	A	1: 24,746,797		probably benign	Het
Methig1	A	T	15: 100,374,944	K53*	probably null	Het
Mfap3	T	A	11: 57,529,643	I150N	probably damaging	Het
Mug1	A	T	6: 121,840,227	Q85L	probably benign	Het
Npl	A	G	1: 153,515,409	V200A	probably damaging	Het
Nuf2	A	T	1: 169,498,934		probably benign	Het
Obscn	A	G	11: 59,112,707	V1255A	probably damaging	Het
Olfr186	C	T	16: 59,027,128	V260M	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr916	T	C	9: 38,658,182	D70G	probably damaging	Het
P2rx1	T	C	11: 73,012,961	V283A	probably damaging	Het
Pex2	C	A	3: 5,561,295	L151F	probably damaging	Het
Pias1	A	G	9: 62,893,118		probably benign	Het
Pmfbp1	A	T	8: 109,530,473		probably benign	Het
Pogz	A	G	3: 94,876,636	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,503,241		probably null	Het
Prl	G	A	13: 27,064,928	D189N	probably damaging	Het
Prpf6	A	G	2: 181,651,127	N794S	probably benign	Het
Prr36	G	A	8: 4,213,930	Q579*	probably null	Het
Ptprq	A	T	10: 107,643,994	Y1138*	probably null	Het
Rabepk	A	T	2: 34,785,580	H179Q	probably damaging	Het
Rest	T	C	5: 77,282,751	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,464,216		probably benign	Het
Rnpepl1	T	C	1: 92,918,865		probably benign	Het
Sacs	T	A	14: 61,191,479	L329Q	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Setd5	A	T	6: 113,115,033	I272F	probably damaging	Het
Sgk1	G	T	10: 21,996,310	A262S	probably benign	Het
Skint2	G	A	4: 112,624,041	V34I	possibly damaging	Het
Skint5	G	C	4: 113,655,672	Q888E	unknown	Het
Slc4a3	T	C	1: 75,551,828		probably benign	Het
Sox10	T	C	15: 79,163,319	E133G	probably damaging	Het
Spryd3	G	A	15: 102,130,400	R129*	probably null	Het
Stag1	T	A	9: 100,928,091	N782K	probably benign	Het
Stam	T	C	2: 14,117,495	L132P	probably damaging	Het
Stard9	T	A	2: 120,697,596	S1445T	probably damaging	Het
Syt5	C	T	7: 4,543,109	R94Q	probably benign	Het
Tbc1d23	A	T	16: 57,171,814	H594Q	probably damaging	Het
Tecta	T	A	9: 42,337,939	I1871F	probably damaging	Het
Tek	A	G	4: 94,804,312	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643	F469L	probably damaging	Het
Trove2	A	T	1: 143,757,751	D536E	possibly damaging	Het
Tyr	T	C	7: 87,493,221	S44G	possibly damaging	Het
Usp20	T	A	2: 31,017,475	V673E	probably benign	Het
Usp28	T	C	9: 49,037,213	S873P	probably damaging	Het
Usp43	C	T	11: 67,897,274	V306M	possibly damaging	Het
Wdr17	G	T	8: 54,651,421		probably null	Het
Wsb2	T	G	5: 117,376,679		probably benign	Het
Xkrx	A	T	X: 134,150,966	L312Q	probably damaging	Het

Other mutations in Fbxo18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Fbxo18	APN	2	11757523	nonsense	probably null
IGL02081:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02082:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02084:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02086:Fbxo18	APN	2	11764127	missense	probably benign	0.31
IGL02369:Fbxo18	APN	2	11747158	missense	possibly damaging	0.61
IGL02584:Fbxo18	APN	2	11759958	missense	probably benign	0.07
IGL03138:Fbxo18	UTSW	2	11749509	intron	probably benign
R0384:Fbxo18	UTSW	2	11749578	missense	probably damaging	1.00
R0972:Fbxo18	UTSW	2	11764088	splice site	probably benign
R1420:Fbxo18	UTSW	2	11767682	missense	probably benign	0.01
R1827:Fbxo18	UTSW	2	11763888	missense	possibly damaging	0.88
R1832:Fbxo18	UTSW	2	11767400	missense	probably benign	0.08
R1960:Fbxo18	UTSW	2	11757528	missense	probably damaging	0.98
R2040:Fbxo18	UTSW	2	11769895	missense	possibly damaging	0.66
R2044:Fbxo18	UTSW	2	11762970	missense	possibly damaging	0.89
R2102:Fbxo18	UTSW	2	11758289	missense	probably benign	0.18
R3236:Fbxo18	UTSW	2	11769826	missense	probably damaging	1.00
R3975:Fbxo18	UTSW	2	11767210	missense	possibly damaging	0.72
R4504:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4505:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4507:Fbxo18	UTSW	2	11749017	missense	possibly damaging	0.91
R4799:Fbxo18	UTSW	2	11755747	missense	probably damaging	1.00
R4894:Fbxo18	UTSW	2	11762960	missense	probably damaging	1.00
R4994:Fbxo18	UTSW	2	11764230	missense	probably damaging	1.00
R5579:Fbxo18	UTSW	2	11748993	missense	probably damaging	0.97
R5801:Fbxo18	UTSW	2	11769826	missense	probably damaging	1.00
R6255:Fbxo18	UTSW	2	11748446	missense	probably benign	0.31
R7011:Fbxo18	UTSW	2	11762963	missense	probably damaging	1.00
R7177:Fbxo18	UTSW	2	11755711	missense	probably damaging	1.00
R7243:Fbxo18	UTSW	2	11751525	missense	probably benign	0.11
R7331:Fbxo18	UTSW	2	11763986	missense	probably benign
R7361:Fbxo18	UTSW	2	11747076	missense	probably damaging	1.00
R7460:Fbxo18	UTSW	2	11756685	missense	probably benign	0.38
R7541:Fbxo18	UTSW	2	11749537	missense	probably benign	0.05
R8000:Fbxo18	UTSW	2	11767289	missense	probably benign	0.21
R8010:Fbxo18	UTSW	2	11767632	missense	probably benign	0.15
R8056:Fbxo18	UTSW	2	11743630	missense	probably benign	0.01
R8517:Fbxo18	UTSW	2	11777430	critical splice donor site	probably null
R8686:Fbxo18	UTSW	2	11755658	missense	probably benign	0.00
R8883:Fbxo18	UTSW	2	11749111	missense	probably benign	0.21
R9093:Fbxo18	UTSW	2	11759990	missense	probably damaging	1.00
R9306:Fbxo18	UTSW	2	11767576	missense	probably benign	0.00
R9342:Fbxo18	UTSW	2	11749603	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAACCACGCGATGTGACAGCAG -3'
(R):5'- TGGATAACCATGAGTGCAGCAACAG -3'

Sequencing Primer
(F):5'- AGCAGCACTTGAGATGCTC -3'
(R):5'- AGCTGGGACTTAGTTCTTGC -3'

Posted On

2013-05-23