|Institutional Source||Beutler Lab|
|Gene Name||N-acetylneuraminate pyruvate lyase|
|Is this an essential gene?||Possibly non essential (E-score: 0.426)|
|Stock #||R5818 (G1)|
|Chromosomal Location||153503015-153550045 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 153535915 bp|
|Amino Acid Change||Arginine to Cysteine at position 63 (R63C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037454 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041874]|
|Predicted Effect||probably damaging
AA Change: R63C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R63C
|Meta Mutation Damage Score||0.718|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
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'- TCAGAGTGGTTTCTGAGTAAGAGC -3'
(R):5'- AATGGACAAGCGCCTGTCTC -3'
(F):5'- TGCCCTTCCCCAGAGACAG -3'
(R):5'- AAGCGCCTGTCTCCCTCTG -3'