Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02712:Fbxo7'

304606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo7

Ensembl Gene

ENSMUSG00000001786

Gene Name

F-box protein 7

Synonyms

2410015K21Rik, A230052G17Rik

Accession Numbers

NCBI RefSeq: NM_153195.2; MGI: 1917004

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02712

Quality Score

Status

Chromosome

Chromosomal Location

86021972-86051873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86024438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 49 (T49A)

Ref Sequence

ENSEMBL: ENSMUSP00000120840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001837] [ENSMUST00000117597] [ENSMUST00000120344] [ENSMUST00000130320] [ENSMUST00000147168]

AlphaFold

Q3U7U3

Predicted Effect

probably benign
Transcript: ENSMUST00000001837

SMART Domains

Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786

Domain	Start	End	E-Value	Type
Blast:UBQ	1	40	7e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000117597

SMART Domains

Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786

Domain	Start	End	E-Value	Type
Pfam:PI31_Prot_N	101	245	9.6e-31	PFAM
Pfam:F-box	250	297	2.7e-6	PFAM
Pfam:F-box-like	252	298	7.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120344

SMART Domains

Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786

Domain	Start	End	E-Value	Type
Pfam:PI31_Prot_N	103	247	4.8e-31	PFAM
Pfam:F-box	252	299	1.8e-6	PFAM
Pfam:F-box-like	254	300	5.1e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130320
AA Change: T49A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: T49A

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	78	7e-6	SMART
Blast:UBQ	1	79	6e-30	BLAST
Pfam:PI31_Prot_N	188	323	4.7e-20	PFAM
Pfam:F-box	331	378	9.7e-6	PFAM
Pfam:F-box-like	333	379	9.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181665

SMART Domains

Protein: ENSMUSP00000137845
Gene: ENSMUSG00000097692

Domain	Start	End	E-Value	Type
low complexity region	77	90	N/A	INTRINSIC
low complexity region	150	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190739

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 4434927
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 which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(4) Gene trapped(3)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angel1	A	G	12: 86,722,839		probably benign	Het
Arhgef33	T	A	17: 80,360,373	V289D	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Cabp5	A	G	7: 13,403,346	M93V	probably damaging	Het
Ces1a	A	C	8: 93,036,040	V201G	probably damaging	Het
Cisd1	A	G	10: 71,336,351	F34L	probably benign	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Ddx39	A	G	8: 83,721,757	I213V	probably benign	Het
Ddx59	A	T	1: 136,439,781	N542I	probably benign	Het
Dytn	T	C	1: 63,664,422	T233A	probably benign	Het
Fmnl2	C	A	2: 53,036,498		probably benign	Het
Golga2	G	T	2: 32,304,213	K610N	probably damaging	Het
Hipk4	T	C	7: 27,528,635	Y269H	probably damaging	Het
Ifi209	T	C	1: 173,642,701	V285A	possibly damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map3k13	T	G	16: 21,905,255	V329G	probably damaging	Het
Mrm3	T	C	11: 76,243,857	W29R	possibly damaging	Het
Nos1ap	T	C	1: 170,329,251	I213V	possibly damaging	Het
Nphp4	C	T	4: 152,556,275	T1033M	probably damaging	Het
Nr5a2	T	C	1: 136,940,528		probably null	Het
Nrcam	A	G	12: 44,573,827	Y885C	probably damaging	Het
Olfr23	T	C	11: 73,940,930	V228A	probably benign	Het
Olfr983	T	C	9: 40,092,786	H60R	probably damaging	Het
Ovgp1	T	A	3: 105,986,513		probably benign	Het
Pdzd2	T	C	15: 12,376,027	S1341G	probably benign	Het
Pld2	T	G	11: 70,557,079	L856R	probably benign	Het
Plod1	A	G	4: 147,918,887	F494L	possibly damaging	Het
Pnkd	T	A	1: 74,349,868	S233T	possibly damaging	Het
Rnf144b	T	C	13: 47,239,779	I198T	probably damaging	Het
Rsc1a1	G	T	4: 141,685,065	Q179K	probably benign	Het
Slc5a10	C	T	11: 61,707,806	W249*	probably null	Het
Slc9a3r1	T	C	11: 115,177,234	V200A	possibly damaging	Het
Spata32	T	G	11: 103,208,147		probably benign	Het
Stk4	T	A	2: 164,096,897	H228Q	probably damaging	Het
Szt2	T	A	4: 118,384,833	Q1592L	probably benign	Het
Tnc	T	A	4: 63,975,256	I1598F	probably damaging	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Ttll6	T	G	11: 96,139,775		probably benign	Het
Vmn2r118	A	G	17: 55,592,655	S750P	probably benign	Het
Zswim5	C	T	4: 116,985,695	T879I	probably damaging	Het

Other mutations in Fbxo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Fbxo7	APN	10	86029064	missense	probably damaging	0.98
IGL01483:Fbxo7	APN	10	86044581	missense	probably damaging	1.00
IGL02502:Fbxo7	APN	10	86033297	missense	probably damaging	1.00
P0007:Fbxo7	UTSW	10	86033293	missense	possibly damaging	0.95
R0410:Fbxo7	UTSW	10	86029238	critical splice donor site	probably null
R4119:Fbxo7	UTSW	10	86021895	unclassified	probably benign
R4604:Fbxo7	UTSW	10	86046802	missense	probably damaging	1.00
R4884:Fbxo7	UTSW	10	86029150	missense	probably damaging	0.99
R5088:Fbxo7	UTSW	10	86021920	unclassified	probably benign
R5286:Fbxo7	UTSW	10	86022090	missense	probably damaging	1.00
R5387:Fbxo7	UTSW	10	86024654	missense	probably benign	0.01
R5451:Fbxo7	UTSW	10	86029037	missense	probably benign	0.01
R5491:Fbxo7	UTSW	10	86048026	missense	probably damaging	1.00
R5542:Fbxo7	UTSW	10	86033285	missense	probably benign	0.00
R5647:Fbxo7	UTSW	10	86029110	missense	probably damaging	0.98
R6027:Fbxo7	UTSW	10	86048086	missense	probably damaging	1.00
R6152:Fbxo7	UTSW	10	86024696	missense	probably benign	0.01
R6280:Fbxo7	UTSW	10	86029105	missense	probably benign	0.00
R6615:Fbxo7	UTSW	10	86044534	missense	possibly damaging	0.48
R7405:Fbxo7	UTSW	10	86044581	missense	probably damaging	1.00
R8785:Fbxo7	UTSW	10	86024546	missense	probably benign	0.02
R9743:Fbxo7	UTSW	10	86047909	missense	probably benign	0.06

Posted On

2015-04-16