|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4687 (G1)|
|Chromosomal Location||111271095-111276426 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 111276068 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 439 (D439V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021707 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021707]|
AA Change: D439V
PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D439V
|Coding Region Coverage||
FUNCTION: This gene encodes a type I transmembrane protein. The encoded protein is an essential component of the cubulin receptor complex which is thought to play a role in coordinating growth and patterning of the embryo. This protein is thought to modulate a bone morphogenetic protein (BMP) signaling pathway. A homoygous mutation in the mouse gene results in the lack of an amnion in embryos. Mutations in the human gene are associated with Megaloblastic Anemia-1. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic growth arrest between the mid and late streak stages of gastrulation and abnormal ectoderm formation, followed by death. Generation of middle primitive streak derivatives is impaired, leading to absence of mesoderm and somites. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Amn||
(F):5'- GGGTTTCCGAAATCCGATTTTC -3'
(R):5'- GGTTACAAGTAGGACCAGGCTATC -3'
(F):5'- GAAATCCGATTTTCGACGCG -3'
(R):5'- AAACAAACAAGCAACTCTTTATTGGG -3'