|Institutional Source||Beutler Lab|
|Gene Name||myotubularin related protein 9|
|Synonyms||MTMR8, 9430075G12Rik, mMTMH3, LIP-STYX|
|Is this an essential gene?||Possibly non essential (E-score: 0.431)|
|Stock #||R6092 (G1)|
|Chromosomal Location||63519651-63543982 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 63542452 bp|
|Amino Acid Change||Valine to Methionine at position 63 (V63M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059894 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058679]|
|Predicted Effect||possibly damaging
AA Change: V63M
PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V63M
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtmr9||
(F):5'- CGAAAGTAGCAAGATTCGCAC -3'
(R):5'- TGTGTACAAGATACCATCAGCAG -3'
(F):5'- GATTCTTATGCATCAAGGGCTGTAC -3'
(R):5'- GCAGACTACTAGACTCCTCAGTTC -3'
|Posted On||Aug 16, 2017|