|Institutional Source||Beutler Lab|
|Gene Name||acetylserotonin O-methyltransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.100)|
|Stock #||R4889 (G1)|
|Chromosomal Location||170672644-170678054 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 170677029 bp|
|Amino Acid Change||Arginine to Leucine at position 250 (R250L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000137135 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000178693]|
|Predicted Effect||possibly damaging
AA Change: R250L
PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: R250L
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: This gene belongs to the methyltransferase superfamily and is located in the pseudoautosomal region (PAR) of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin and is abundant in the pineal gland. Two amino acid substitutions (R78G and R242C) are present in the encoded protein derived from the reference strain, C57BL/6J, and this protein shows low enzyme activity relative to the protein derived from other strains. [provided by RefSeq, May 2015]
PHENOTYPE: Pineal melatonin synthesis requires enzymes encoded by Asmt and Aanat. C57BL/6, BALB/c, AKR/J, NZB/Bl, IS/Cam, and CAST/Ei carry the a allele of Asmt and lack melatonin. SK/Cam, SF/Cam, PERU, and FDS carry the b allele and have normal melatonin levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asmt||
(F):5'- CATGCAAATTACACGCGGG -3'
(R):5'- ATGACCCCAGTGACCTCATC -3'
(F):5'- GCGTGTATGCAAATGAGG -3'
(R):5'- AGTGACCTCATCTGGGCC -3'