|Institutional Source||Beutler Lab|
|Gene Name||N-acetylneuraminate pyruvate lyase|
|Is this an essential gene?||Possibly essential (E-score: 0.530)|
|Stock #||R6010 (G1)|
|Chromosomal Location||153503015-153550045 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 153512568 bp|
|Amino Acid Change||Leucine to Stop codon at position 239 (L239*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037454 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041874]|
|Predicted Effect||probably null
AA Change: L239*
AA Change: L239*
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Npl||
(F):5'- CTGGGCATTGTATCCCCTTAG -3'
(R):5'- GAGTAGCCTTAACACTGAGCC -3'
(F):5'- CTGGGCATTGTATCCCCTTAGATATG -3'
(R):5'- GTAGCCTTAACACTGAGCCAATCTG -3'