The following information accompanied stocks donated to the Bloomington Stock Center by Dirk Beuchle, Paula Vazquez-Pianzola and Beat Suter, University of Bern.
Two mutant alleles of Tmem214 were generated by CRISPR mutagenesis using four guide RNAs simultaneously. The guide RNAs targeted coding sequences in exons 1, 5, 6 and 8 of splice isoforms RE and RF. (Exons 6 and 8 of RE and RF correspond to coding exons 2 and 4 of RA, RB, RC, RG and RH.)
Tmem2142.2 consists of a deletion of ~1,550 bp extending from exon 1 to exon 5 of RE/RF and an insertion of a single base in exon 6. No sequence change occurred at the exon 8 target site. The deletion disrupts RE and RF. The frameshift mutation in RE/RF exon 6 results in truncated proteins encoded by RA, RB, RC, RG and RH splice isoforms. All isoforms are disrupted.
Tmem2149.9 consists of an inversion from exon 1 to exon 6 of RE/RF and a loss of 8 bp in exon 8. 1 bp was lost in exon 5 within the inverted region. All isoforms are disrupted.
Neither mutation results in obvious phenotypes in homozygotes.