|Institutional Source||Beutler Lab|
|Gene Name||N-myristoyltransferase 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7473 (G1)|
|Chromosomal Location||103028190-103068912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 103046400 bp (GRCm38)|
|Amino Acid Change||Arginine to Glycine at position 88 (R88G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021314]|
AA Change: R88G
PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: R88G
|Coding Region Coverage||
|Validation Efficiency||96% (80/83)|
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 184.108.40.206) 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'- ACTGCCCAGGCCTGTCAC -3'
(R):5'- GCTAAGGCCCATTCCTTGC -3'
(F):5'- CTGGACTGGCAAACACTTTG -3'
(R):5'- TCCTTGCTCTCAGCTGGGAAAG -3'