|Institutional Source||Beutler Lab|
|Gene Name||syncytin a|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R6945 (G1)|
|Chromosomal Location||134558146-134560171 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 134558961 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 378 (V378A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000116437 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000149604]|
AA Change: V378A
PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: V378A
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
FUNCTION: Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of a mouse endogenous retrovirus provirus on chromosome 5 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E11.5 and E14.5 associated with defective placental layrinth formation, impaired placental transport, and increased trophoblast cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syna||
(F):5'- ACAGTTGAGGTGGTGATACCCG -3'
(R):5'- TTCAGTACCAGCCCCTCATG -3'
(F):5'- GTGATACCCGCGATGCCTAAC -3'
(R):5'- CTCTCTGGACAATATTCAATCTGGG -3'