|Institutional Source||Beutler Lab|
|Gene Name||SH3 and multiple ankyrin repeat domains 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.281)|
|Stock #||R8039 (G1)|
|Chromosomal Location||89499623-89560261 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 89505439 bp|
|Amino Acid Change||Histidine to Leucine at position 413 (H413L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104932 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039074] [ENSMUST00000109309]|
AA Change: H338L
|Predicted Effect||probably damaging
AA Change: H413L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H413L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of synaptic and autism-related impairments. Homozygotes lacking exon 9 show altered excitation/inhibition balance, increased rearing, and mildly impaired spatial memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Shank3||
(F):5'- ACCCTAGTTACTGGCATCCTTG -3'
(R):5'- TGTTCAGTCCACACAGGCTC -3'
(F):5'- AGGTCCCAGTAGACATTTTGGC -3'
(R):5'- AGTCCACACAGGCTCTTTTTC -3'