|Institutional Source||Beutler Lab|
|Synonyms||Gcdp, V1, 5033418D15Rik|
|Essential gene?||Possibly non essential (E-score: 0.361)|
|Stock #||R9264 (G1)|
|Chromosomal Location||35508906-35539888 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 35512241 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 116 (L116P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031866]|
|PDB Structure||Solution NMR structure of V-1 bound to capping protein (CP) [SOLUTION NMR]|
AA Change: L116P
PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L116P
|Meta Mutation Damage Score||0.8055|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtpn||
(F):5'- CCCCTGGCAGTCTGATTTGTT -3'
(R):5'- GGTTAAGTGAGCTCCAACTCTC -3'
(F):5'- GCAGTCTGATTTGTTATGAATTTCTC -3'
(R):5'- CAACTGTCCAGAGTTGGTTCAG -3'