|Institutional Source||Beutler Lab|
|Gene Name||choline acetyltransferase|
|Is this an essential gene?||Probably essential (E-score: 0.884)|
|Stock #||R5094 (G1)|
|Chromosomal Location||32408203-32465989 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32408939 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 582 (I582F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070865 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070125]|
|Predicted Effect||probably damaging
AA Change: I582F
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I582F
|Meta Mutation Damage Score||0.6120|
|Coding Region Coverage||
|Validation Efficiency||91% (40/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chat||
(F):5'- ACATTGGCTAGTGGGAGTAGTC -3'
(R):5'- TGTCCAATCATGCATGCCAAC -3'
(F):5'- CTAGTGGGAGTAGTCAAGATTGC -3'
(R):5'- TCTACAGAGTGAGTTTCAGGACAGC -3'