|Institutional Source||Beutler Lab|
|Gene Name||microtubule-associated protein 7|
|Synonyms||E-MAP-115, mste, ste, Mtap7, mshi|
|Is this an essential gene?||Possibly non essential (E-score: 0.442)|
|Stock #||R7440 (G1)|
|Chromosomal Location||20148471-20281590 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 20261859 bp|
|Amino Acid Change||Alanine to Valine at position 259 (A259V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111963 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020173] [ENSMUST00000116259]|
AA Change: A251V
|Predicted Effect||probably damaging
AA Change: A259V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: A259V
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Males homozygous for mutations in this marker are sterile with small, disorganized testes, small epidiymis and seminiferous tubules. They have deformed spermatid nuclei and a block in spermatogenesis. Aberrant microtubules are seen in elongating spermatids and sertoli cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map7||
(F):5'- AAGGCGAGTTGAGGATCTTG -3'
(R):5'- GATGTGTAGCTGTCACCTGATC -3'
(F):5'- ATCTTGGGGCTGGGCAC -3'
(R):5'- GTCACCTGATCTTGTACCCAGAG -3'