Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00863:Fbln5'

10704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL00863

Quality Score

Status

Chromosome

Chromosomal Location

101746565-101819055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101809916 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 60 (V60A)

Ref Sequence

ENSEMBL: ENSMUSP00000021603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021603
AA Change: V60A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: V60A

Domain	Start	End	E-Value	Type
EGF_like	42	86	4.71e-1	SMART
EGF_CA	127	167	4.81e-8	SMART
EGF_CA	168	206	2.31e-10	SMART
EGF_CA	207	246	5.31e-10	SMART
EGF_CA	247	287	2.22e-12	SMART
EGF_like	288	333	8.14e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221373

Predicted Effect

probably damaging
Transcript: ENSMUST00000222587
AA Change: V73A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,594,086	E136V	probably damaging	Het
Bsn	A	G	9: 108,115,322	I1077T	probably damaging	Het
Car8	A	G	4: 8,183,251		probably null	Het
Ccny	A	T	18: 9,345,444	D143E	probably benign	Het
Cdh19	A	G	1: 110,949,144	V155A	probably damaging	Het
Cript	T	A	17: 87,027,723	I14N	probably damaging	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Eef1b2	G	A	1: 63,178,506	G91R	probably damaging	Het
Fam49a	A	T	12: 12,359,234	I72F	probably benign	Het
Fbn1	T	A	2: 125,403,219	E249D	possibly damaging	Het
G6pc	G	T	11: 101,370,723	R83L	probably damaging	Het
Grik2	A	G	10: 49,355,928	V502A	possibly damaging	Het
Heatr1	T	C	13: 12,435,128	V2001A	probably benign	Het
Il4i1	T	A	7: 44,838,046	Y148*	probably null	Het
Jmjd4	T	C	11: 59,450,743	S113P	probably benign	Het
Mpp5	A	G	12: 78,809,821	D146G	probably damaging	Het
Nceh1	C	T	3: 27,241,313	P241L	probably damaging	Het
Pcdh10	T	A	3: 45,380,302	D350E	probably damaging	Het
Pdgfrl	A	G	8: 40,985,534	E169G	probably damaging	Het
Ppm1l	T	A	3: 69,317,950	D128E	probably damaging	Het
Rasa1	A	G	13: 85,288,429	V160A	probably benign	Het
Serf2	T	C	2: 121,457,703		probably null	Het
Slitrk1	T	A	14: 108,911,837	N481Y	probably damaging	Het
Tas2r139	T	G	6: 42,141,121	S62R	probably damaging	Het
Tdpoz4	A	T	3: 93,797,073	T226S	probably benign	Het
Tvp23b	C	A	11: 62,883,638	A36E	probably damaging	Het
Upp2	G	A	2: 58,790,064	E301K	probably benign	Het

Other mutations in Fbln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Fbln5	APN	12	101750887	missense	probably damaging	1.00
IGL01860:Fbln5	APN	12	101809869	missense	probably damaging	1.00
IGL02567:Fbln5	APN	12	101761800	critical splice donor site	probably null
R0368:Fbln5	UTSW	12	101809714	critical splice donor site	probably null
R1080:Fbln5	UTSW	12	101750872	missense	possibly damaging	0.90
R1606:Fbln5	UTSW	12	101765198	missense	probably benign	0.04
R2107:Fbln5	UTSW	12	101771269	missense	probably damaging	1.00
R2138:Fbln5	UTSW	12	101761920	missense	probably benign	0.32
R3694:Fbln5	UTSW	12	101765252	missense	probably benign	0.00
R3918:Fbln5	UTSW	12	101750791	missense	probably damaging	1.00
R4166:Fbln5	UTSW	12	101757359	missense	probably damaging	1.00
R4626:Fbln5	UTSW	12	101760827	missense	probably damaging	1.00
R5004:Fbln5	UTSW	12	101760821	missense	probably damaging	0.99
R5264:Fbln5	UTSW	12	101757444	missense	possibly damaging	0.94
R5364:Fbln5	UTSW	12	101771364	missense	probably damaging	0.98
R5767:Fbln5	UTSW	12	101765209	missense	probably damaging	0.97
R5889:Fbln5	UTSW	12	101765226	missense	probably damaging	1.00
R5914:Fbln5	UTSW	12	101760743	missense	possibly damaging	0.78
R6427:Fbln5	UTSW	12	101761822	missense	possibly damaging	0.84
R7079:Fbln5	UTSW	12	101757408	missense	probably damaging	1.00
R7343:Fbln5	UTSW	12	101760816	missense	probably damaging	1.00
R7803:Fbln5	UTSW	12	101761818	missense	probably damaging	1.00

Posted On

2012-12-06