|Institutional Source||Beutler Lab|
|Gene Name||fibulin 1|
|Is this an essential gene?||Probably essential (E-score: 0.800)|
|Stock #||R2312 (G1)|
|Chromosomal Location||85205949-85286535 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 85263348 bp|
|Amino Acid Change||Valine to Alanine at position 598 (V598A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054583 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057410]|
|Predicted Effect||probably benign
AA Change: V598A
PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V598A
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbln1||
(F):5'- TACAGTTTAGCCTGGCCAC -3'
(R):5'- AAGATGTGCATCCTACCCCG -3'
(F):5'- TAGGTGCTGATAGAAGTGCCCC -3'
(R):5'- GTGCATCCTACCCCGACCAC -3'