|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: 0.322)|
|Stock #||R0089 (G1)|
|Chromosomal Location||63519651-63543982 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 63528247 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 400 (F400L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059894 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058679]|
|Predicted Effect||possibly damaging
AA Change: F400L
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: F400L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8739|
|Coding Region Coverage||
|Validation Efficiency||98% (82/84)|
|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'- CCAATTTCTTTTGGGAAGTGACCGTG -3'
(R):5'- ACACACCTTGAGCAGTAGCTGAAATC -3'
(F):5'- AAGTGACCGTGTGTGAGC -3'
(R):5'- TGCACAACTTTGCCAAGGG -3'