|Institutional Source||Beutler Lab|
|Gene Name||Sec23 interacting protein|
|Is this an essential gene?||Possibly non essential (E-score: 0.335)|
|Stock #||R4510 (G1)|
|Chromosomal Location||128744943-128784836 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 128779176 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 956 (E956K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042942]|
|Predicted Effect||probably damaging
AA Change: E956K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E956K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.358|
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec23ip||
(F):5'- TGAACACAGAGTCAGCTAAAGTCAG -3'
(R):5'- TTAGCATCTCCACTCTGAGCG -3'
(F):5'- AGTCAGCTAAAGTCAGAGGATAATG -3'
(R):5'- TAGCATCTCCACTCTGAGCGTAAAAC -3'