|Institutional Source||Beutler Lab|
|Gene Name||N-myristoyltransferase 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6908 (G1)|
|Chromosomal Location||103028190-103068912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 103058254 bp (GRCm38)|
|Amino Acid Change||Serine to Alanine at position 312 (S312A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021314]|
AA Change: S312A
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S312A
|Coding Region Coverage||
|Validation Efficiency||95% (52/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 126.96.36.199) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5 and E7.5. Heterozygotes show partial prenatal lethality. Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nmt1||
(F):5'- ATGGCTTCTGAAATGGAAGAGC -3'
(R):5'- CTACTAAGCCAGGCATAGACGAG -3'
(F):5'- AAGATTCCCTGGCCCCCTG -3'
(R):5'- CCAGGCATAGACGAGGCAGG -3'