Posts Tagged ‘i0cmp19’

Meeting Materials for Perspectives in Comparative Genomics & Evolution – August 15-16, 2019

August 19, 2019

* MEETING URL

https://www.genome.gov/event-calendar/perspectives-in-comparative-genomics-and-evolution

* MATERIAL in labdropbox

http://meetings.gersteinlab.org/2019/08.19/i0cmp19-stuff/

including:

Liked-tweets-from-i0cmp19.pdf + Liked-Tweets-from-i0cmp19.xlsx i0cmp19-slides
EXTRACT-FOR-LAB–mynotes0mg-from-i0cmp19.docx

* MATERIAL in labdropbox3

Comparative-Genomics-and-Evolution-Workshop-20190819T044729Z-001.zip

Cc2d2a Chemically induced Allele Detail MGI Mouse (MGI:5311382)

August 19, 2019

http://www.informatics.jax.org/allele/MGI:5311382

b2b1035Clo = Blue meanie mutation

QT:{{”
Cc2d2ab2 ^ b1035Clo
Name:coiled-coil and C2 domain containing 2A; Bench to Bassinet Program (B2B/CVDC), mutation 1035 Cecilia Lo
MGI ID:MGI:5311382
Synonyms:Blue meanie
Gene:Cc2d2a Location: Chr5:43662373-43740975 bp, + strand Genetic Position: Chr5, 23.78 cM
Heterotaxy indicated by left lung isomerism with left sided IVC and TGA (observed by EFIC imaging)


Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 2845 in exon 23 of the cDNA (c.2845C>T, NM_172274). This changes the arginine residue to a translation stop at position 949 of the encoded protein (p.R949*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cc2d2ab2b1035Clo, and may be present in stocks carrying this mutation.
“}}

Parental influence on human germline de novo mutations in 1,548 trios from Iceland. – PubMed – NCBI

August 19, 2019

https://www.ncbi.nlm.nih.gov/pubmed/28959963