|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, gamma 3|
|Synonyms||Gje1, connexin 29, Cx29|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0322 (G1)|
|Chromosomal Location||137953461-137963098 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 137957498 bp|
|Amino Acid Change||Methionine to Lysine at position 175 (M175K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076367 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000077119]|
|Predicted Effect||possibly damaging
AA Change: M175K
PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: M175K
|Meta Mutation Damage Score||0.4086|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
PHENOTYPE: Half of homozygotes for a null allele show delayed maturation of hearing thresholds, high-frequency hearing loss, vulnerability to noise damage and demyelination of spiral ganglion neurons. Homozygotes for another null allele show normal sciatic nerve conduction with no auditory or visual deficits. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gjc3||
(F):5'- GAACTGTACACCCCAAAGGATGAGG -3'
(R):5'- ACCCAGTGCCATTTATGTGGCTTTC -3'
(F):5'- CTACTCTAAGTGGGGACTGCTAAC -3'
(R):5'- GCCATTTATGTGGCTTTCACTCTG -3'