Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Fbh1'

216188

Institutional Source

Beutler Lab

Gene Symbol

Fbh1

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box DNA helicase 1

Synonyms

Fbx18, Fbxo18

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R0384 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11747384-11782393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11754389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 198 (I198T)

Ref Sequence

ENSEMBL: ENSMUSP00000116392 (fasta)

Gene Model

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

AlphaFold

Q8K2I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071564
AA Change: I783T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: I783T

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 damaging
Transcript: ENSMUST00000131893
AA Change: I198T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: I198T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155604

Meta Mutation Damage Score

0.2932

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		probably benign	Het

Other mutations in Fbh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Fbh1	APN	2	11,762,334 (GRCm39)	nonsense	probably null
IGL02081:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02082:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02084:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02086:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02369:Fbh1	APN	2	11,751,969 (GRCm39)	missense	possibly damaging	0.61
IGL02584:Fbh1	APN	2	11,764,769 (GRCm39)	missense	probably benign	0.07
IGL03138:Fbh1	UTSW	2	11,754,320 (GRCm39)	intron	probably benign
R0479:Fbh1	UTSW	2	11,763,230 (GRCm39)	missense	probably damaging	1.00
R0972:Fbh1	UTSW	2	11,768,899 (GRCm39)	splice site	probably benign
R1420:Fbh1	UTSW	2	11,772,493 (GRCm39)	missense	probably benign	0.01
R1827:Fbh1	UTSW	2	11,768,699 (GRCm39)	missense	possibly damaging	0.88
R1832:Fbh1	UTSW	2	11,772,211 (GRCm39)	missense	probably benign	0.08
R1960:Fbh1	UTSW	2	11,762,339 (GRCm39)	missense	probably damaging	0.98
R2040:Fbh1	UTSW	2	11,774,706 (GRCm39)	missense	possibly damaging	0.66
R2044:Fbh1	UTSW	2	11,767,781 (GRCm39)	missense	possibly damaging	0.89
R2102:Fbh1	UTSW	2	11,763,100 (GRCm39)	missense	probably benign	0.18
R3236:Fbh1	UTSW	2	11,774,637 (GRCm39)	missense	probably damaging	1.00
R3975:Fbh1	UTSW	2	11,772,021 (GRCm39)	missense	possibly damaging	0.72
R4504:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4505:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4507:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4799:Fbh1	UTSW	2	11,760,558 (GRCm39)	missense	probably damaging	1.00
R4894:Fbh1	UTSW	2	11,767,771 (GRCm39)	missense	probably damaging	1.00
R4994:Fbh1	UTSW	2	11,769,041 (GRCm39)	missense	probably damaging	1.00
R5579:Fbh1	UTSW	2	11,753,804 (GRCm39)	missense	probably damaging	0.97
R5801:Fbh1	UTSW	2	11,774,637 (GRCm39)	missense	probably damaging	1.00
R6255:Fbh1	UTSW	2	11,753,257 (GRCm39)	missense	probably benign	0.31
R7011:Fbh1	UTSW	2	11,767,774 (GRCm39)	missense	probably damaging	1.00
R7177:Fbh1	UTSW	2	11,760,522 (GRCm39)	missense	probably damaging	1.00
R7243:Fbh1	UTSW	2	11,756,336 (GRCm39)	missense	probably benign	0.11
R7331:Fbh1	UTSW	2	11,768,797 (GRCm39)	missense	probably benign
R7361:Fbh1	UTSW	2	11,751,887 (GRCm39)	missense	probably damaging	1.00
R7460:Fbh1	UTSW	2	11,761,496 (GRCm39)	missense	probably benign	0.38
R7541:Fbh1	UTSW	2	11,754,348 (GRCm39)	missense	probably benign	0.05
R8000:Fbh1	UTSW	2	11,772,100 (GRCm39)	missense	probably benign	0.21
R8010:Fbh1	UTSW	2	11,772,443 (GRCm39)	missense	probably benign	0.15
R8056:Fbh1	UTSW	2	11,748,441 (GRCm39)	missense	probably benign	0.01
R8517:Fbh1	UTSW	2	11,782,241 (GRCm39)	critical splice donor site	probably null
R8686:Fbh1	UTSW	2	11,760,469 (GRCm39)	missense	probably benign	0.00
R8883:Fbh1	UTSW	2	11,753,922 (GRCm39)	missense	probably benign	0.21
R9093:Fbh1	UTSW	2	11,764,801 (GRCm39)	missense	probably damaging	1.00
R9306:Fbh1	UTSW	2	11,772,387 (GRCm39)	missense	probably benign	0.00
R9342:Fbh1	UTSW	2	11,754,414 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCAACTAATGAGACCACCGAGG -3'
(R):5'- TGCACTGATGACAGAGCTGCAC -3'

Sequencing Primer
(F):5'- AGCTGGAGAAACCTGGCATAC -3'
(R):5'- ACAGAGCTGCACAGCTTG -3'

Posted On

2014-07-28