|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, alpha 4|
|Synonyms||Gja-4, connexin 37, Cx37, Cnx37|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2206 (G1)|
|Chromosomal Location||127311421-127314039 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 127312617 bp|
|Amino Acid Change||Serine to Threonine at position 118 (S118T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062320 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053753]|
|Predicted Effect||probably benign
AA Change: S118T
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: S118T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutant females are sterile and oocyte development arrests prior to achieving meiotic competence. There is a lack of mature Graafian follicles, failure to ovulate, and formation of premature corpora lutea. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gja4||
(F):5'- ACATAGCAGTCCACGATGTG -3'
(R):5'- ACCAACGTCTGCTATGACC -3'
(F):5'- AACACCGGCTCCATGGTC -3'
(R):5'- AACGTCTGCTATGACCAGGCC -3'