Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00541:Fbxw9'

4998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxw9

Ensembl Gene

ENSMUSG00000008167

Gene Name

F-box and WD-40 domain protein 9

Synonyms

Fbw9, 1110017H11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL00541

Quality Score

Status

Chromosome

Chromosomal Location

85786748-85793750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85793219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 435 (I435F)

Ref Sequence

ENSEMBL: ENSMUSP00000092845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095220] [ENSMUST00000177563]

AlphaFold

F8VPX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095220
AA Change: I435F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092845
Gene: ENSMUSG00000008167
AA Change: I435F

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
FBOX	82	123	7.47e-4	SMART
WD40	161	201	2.98e-1	SMART
WD40	210	252	4.55e-3	SMART
WD40	256	292	7.8e-2	SMART
WD40	296	333	1.03e0	SMART
WD40	377	415	2.57e0	SMART
Blast:WD40	419	455	8e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183657

Predicted Effect

probably benign
Transcript: ENSMUST00000177563

SMART Domains

Protein: ENSMUSP00000136655
Gene: ENSMUSG00000095845

Domain	Start	End	E-Value	Type
G_gamma	7	72	2.19e-22	SMART
GGL	11	72	6.32e-27	SMART

Coding Region Coverage

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 FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp2k	G	A	5: 97,211,407 (GRCm39)		probably null	Het
Col6a3	T	C	1: 90,729,864 (GRCm39)	H1207R	possibly damaging	Het
Efl1	T	C	7: 82,307,319 (GRCm39)	S72P	probably damaging	Het
Gm9837	G	A	11: 53,361,079 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,064,302 (GRCm39)	L1226F	probably benign	Het
Nbea	G	A	3: 55,875,510 (GRCm39)	P1720L	probably benign	Het
Pira12	T	A	7: 3,900,385 (GRCm39)		probably benign	Het
Slco1a6	G	T	6: 142,042,025 (GRCm39)	T517K	possibly damaging	Het
Sult2a2	T	C	7: 13,468,684 (GRCm39)	L50P	probably damaging	Het
Syt9	A	T	7: 107,101,387 (GRCm39)	N378Y	probably null	Het
Tchh	A	G	3: 93,353,557 (GRCm39)	E999G	unknown	Het
Usp9x	A	G	X: 13,007,985 (GRCm39)	T1425A	probably benign	Het

Other mutations in Fbxw9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Fbxw9	APN	8	85,792,606 (GRCm39)	unclassified	probably benign
IGL01633:Fbxw9	APN	8	85,791,055 (GRCm39)	missense	probably damaging	1.00
IGL02672:Fbxw9	APN	8	85,792,682 (GRCm39)	splice site	probably null
R0053:Fbxw9	UTSW	8	85,791,083 (GRCm39)	missense	probably damaging	1.00
R0053:Fbxw9	UTSW	8	85,791,083 (GRCm39)	missense	probably damaging	1.00
R0535:Fbxw9	UTSW	8	85,791,229 (GRCm39)	missense	probably damaging	1.00
R0961:Fbxw9	UTSW	8	85,788,658 (GRCm39)	missense	probably benign	0.05
R1171:Fbxw9	UTSW	8	85,792,707 (GRCm39)	missense	possibly damaging	0.95
R2371:Fbxw9	UTSW	8	85,788,658 (GRCm39)	missense	probably benign	0.05
R4472:Fbxw9	UTSW	8	85,786,829 (GRCm39)	missense	probably damaging	1.00
R4864:Fbxw9	UTSW	8	85,792,530 (GRCm39)	missense	probably damaging	1.00
R4865:Fbxw9	UTSW	8	85,786,785 (GRCm39)	missense	possibly damaging	0.62
R5236:Fbxw9	UTSW	8	85,792,974 (GRCm39)	missense	probably damaging	0.98
R5771:Fbxw9	UTSW	8	85,791,201 (GRCm39)	splice site	probably null
R6670:Fbxw9	UTSW	8	85,788,839 (GRCm39)	missense	possibly damaging	0.55
R6861:Fbxw9	UTSW	8	85,792,740 (GRCm39)	missense	probably damaging	0.99
R7354:Fbxw9	UTSW	8	85,788,825 (GRCm39)	missense	probably damaging	1.00
R9222:Fbxw9	UTSW	8	85,788,856 (GRCm39)	missense	probably damaging	0.99
R9776:Fbxw9	UTSW	8	85,792,523 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20