|Institutional Source||Beutler Lab|
|Gene Name||Sec24 related gene family, member D (S. cerevisiae)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5041 (G1)|
|Chromosomal Location||123267455-123365641 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 123294231 bp (GRCm38)|
|Amino Acid Change||Glutamine to Leucine at position 247 (Q247L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035823 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047923]|
AA Change: Q247L
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: Q247L
|Meta Mutation Damage Score||0.1023|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. A hypomorphic gene trap allele results in lethality during organogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec24d||
(F):5'- GTGTAAGAACTCCCTCTTAGCTTCC -3'
(R):5'- AAAAGAAGGCTCCTCCCGTG -3'
(F):5'- ACAAACTTGGTGGCAGGCTTG -3'
(R):5'- TGGCCAGTGTCCCAGAC -3'