Gene
Gene Not Within Locus (Nearby
False
Gene Description
This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex.
Published Zebrafish Pehnotype
ZFIN Link
http://zfin.org/ZDB-GENE-040808-9
Allen Link
http://mouse.brain-map.org/gene/show/60409
Locus Rank
Genes in Region
IMMP2L (directly in locus), LRRN3, DOCK4
Associated Snps
rs13240464
rs211829
GWAS Region (hg19)
chr7:110843815-111205915
Genes Skipping
DOCK4 - possible, but is much farther away from locus than the other two genes and is also involved in cancer and seems to have many important biological roles unrelated to neurons.
Ricopili Plot Surrounding Area

Distance On Each Side Of Locus In Above Plot
1 MB
Ricopili Plot

Gwas And Surrounding Region Pic

Gwas Region Pic

Sequence 1
Mutation Area - WT DNA Sequence
gcctagctaaactctttatagcttgaataagtcaaggttattttgtcttctctctcttcaggcaATGGCGCAGACGGGCTTTGGGCGACGGTACTTCAAAGCATTTGTTAGTGGTTTCTTTGTTGCCGTCCCTGTGACAGTGACTGTCTTAGATCGTCTTGCATACGTGGCACGTGTGGAAGGAGCCTCTATGCAGgtgagatgtcc
Mutation Area - Mutant DNA Sequence
gcctagctaaactctttatagcttgaataagtcaaggttattttgtcttctctctcttcaggcaATGGCGCAGACGGTACTTCAAAGCATTTGTTAGTGGTTTCTTTGTTGCCGTCCCTGTGACAGTGACTGTCTTAGATCGTCTTGCATACGTGGCACGTGTGGAAGGAGCCTCTATGCAGgtgagatgtcc
Guide RNA Target Sites
CGCAGACGGGCTTTGGGCGACGG
Genotyping Primers
f, gcctagctaaactctttatagcttgaataagtcaagg
r, ggacatctcacCTGCATAGAGGCTC
Alignment of WT and Mutant Sequences w/ gRNA Targets (cyan) and Genotyping Primers (pink) Shown on WT Sequence

WT Protein Sequence
MAQTGFGRRYFKAFVSGFFVAVPVTVTVLDRLAYVARVEGASMQPSLNPDGESSPDVVLL
NRWSVRNYHVQRGDIVSVLSPKNPQQKIIKRVIGIEGDFIKTLGYKNRYVRVPDGHLWIE
GDHHGHSFDSNAFGPVSLGLVHGRASHIIWPPSRWQRIEPSVPPDRRPLLNWDRAAEDKY
DDD-
Mutant Protein Sequence
MAQTVLQSIC-
Mutant Genotyping Size
193
Ribosome Profiling Development

Transcript Plot

Behavior Data
Behavior Data Summary
None
Behavior Data Description 1
Dark flash block 1 start Merged section Pvalue = not significant 12 wt vs 17 hom ribgraph_mean_ribbon_fullboutdata_dpix_a0darkflash103.png
Behavior Data Graph 1

Behavior Data Description 2
Day all prepulse tap Merged section Pvalue = 0.0328 20 het vs 17 hom ribgraph_mean_ribbon_fullboutdata_dpix_dayprepulseinhibition100d.png
Behavior Data Graph 2

Behavior Data Description 3
Features of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 12 wt vs 17 hom ribgraph_mean_ribbonbout_aveboutdisp_10min_combo.png
Behavior Data Graph 3

Behavior Data Description 4
Frequency of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 12 wt vs 17 hom ribgraph_mean_ribbonbout_dpixnumberofbouts_10min_combo.png
Behavior Data Graph 4

Behavior Data Description 5
Location in well entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 12 wt vs 17 hom ribgraph_mean_ribbonbout_averhofrac_10min_combo.png
Behavior Data Graph 5

Behavior Data Description 6
None
Behavior Data Graph 6
None
Behavior Data Description 7
None
Behavior Data Graph 7
None
Behavior Data Description 8
None
Behavior Data Graph 8
None
Behavior Data Description 9
None
Behavior Data Graph 9
None
Behavior Data Description 10
None
Behavior Data Graph 10
None
Behavior Data Description 11
None
Behavior Data Graph 11
None
Behavior Data Description 12
None
Behavior Data Graph 12
None
Behavior Data Description 13
None
Behavior Data Graph 13
None
Behavior Data Description 14
None
Behavior Data Graph 14
None