|Institutional Source||Beutler Lab|
|Gene Name||tubulin, beta 1 class VI|
|Is this an essential gene?||Probably non essential (E-score: 0.210)|
|Stock #||R4249 (G1)|
|Chromosomal Location||174450695-174457882 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 174455733 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 45 (E45V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016399 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016399]|
|Predicted Effect||probably null
AA Change: E45V
PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E45V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tubb1||
(F):5'- CTATGCACAGGAGCCAACTC -3'
(R):5'- AGGCTGAATGCACCTCATC -3'
(F):5'- ATCGAACTCAGGTGGTCAGC -3'
(R):5'- ACCCTTGCAACTGGAGTG -3'