|Institutional Source||Beutler Lab|
|Gene Name||abhydrolase domain containing 16A|
|Synonyms||D17H6S82E, Bat5, NG26|
|Is this an essential gene?||Possibly non essential (E-score: 0.445)|
|Stock #||R7972 (G1)|
|Chromosomal Location||35089263-35102987 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 35101311 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 384 (V384E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007251 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007251] [ENSMUST00000173846]|
|Predicted Effect||probably damaging
AA Change: V384E
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: V384E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6162|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, decreased body size and weight, and decreased brain lysophosphatidylserines. Macrophages display a reduction in lysophosphatidylserines and LPS-induced cytokine production. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abhd16a||
(F):5'- AGGCTTCACTGGTATCTGCCTC -3'
(R):5'- TAAAGGTCCCACTGTCCACTG -3'
(F):5'- TCCCTGCGCAGTAGAGATG -3'
(R):5'- TGTCCACTGGGCAGGGAAG -3'