|Institutional Source||Beutler Lab|
|Gene Name||trafficking protein particle complex 10|
|Synonyms||Tmem1, LOC380642, B230307C21Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.420)|
|Stock #||R4418 (G1)|
|Chromosomal Location||78186725-78244641 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 78217188 bp|
|Amino Acid Change||Alanine to Aspartic acid at position 251 (A251D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000384 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000384] [ENSMUST00000217980]|
|Predicted Effect||probably damaging
AA Change: A251D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A251D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.25|
|Coding Region Coverage||
|Validation Efficiency||95% (72/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trappc10||
(F):5'- TCCAATAGGAATTCGAAGACCC -3'
(R):5'- TGTCCAGTGCTGCTCGAAAG -3'
(F):5'- GGAATTCGAAGACCCTGATAATTTGC -3'
(R):5'- TCCTATGTGAGCGAGTCCTGAC -3'