|Institutional Source||Beutler Lab|
|Gene Name||N-acetyltransferase 8-like|
|Is this an essential gene?||Probably non essential (E-score: 0.062)|
|Stock #||R1566 (G1)|
|Chromosomal Location||33995984-34005916 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 34000856 bp|
|Amino Acid Change||Asparagine to Lysine at position 203 (N203K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059313 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056355]|
|Predicted Effect||probably benign
AA Change: N203K
PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
AA Change: N203K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal responses to novelty and decreased social investigation in a novel environment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nat8l||
(F):5'- TGTCAGCAAGACATGCTCTGCC -3'
(R):5'- CATGTGTCTGAAGCCCAGTGACTC -3'
(F):5'- GAGCATCATTGTGATACCCTGAC -3'
(R):5'- CCCAGTGACTCATAGAGCTTG -3'