|Institutional Source||Beutler Lab|
|Gene Name||tenascin XB|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5269 (G1)|
|Chromosomal Location||34670535-34719815 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 34703608 bp|
|Amino Acid Change||Arginine to Histidine at position 2465 (R2465H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084661 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087399] [ENSMUST00000168533]|
|Predicted Effect||possibly damaging
AA Change: R2465H
PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: R2465H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.304|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnxb||
(F):5'- TAAGAAGCCACACCTGGGAG -3'
(R):5'- CACAGCAAAGGTCTGTATGGC -3'
(F):5'- TGACTGTGACAGATGCCAC -3'
(R):5'- CAAAGGTCTGTATGGCCATGTTGTC -3'