Incidental Mutation 'IGL02741:Gjc3'
ID 305900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjc3
Ensembl Gene ENSMUSG00000056966
Gene Name gap junction protein, gamma 3
Synonyms connexin 29, Cx29, Gje1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02741
Quality Score
Status
Chromosome 5
Chromosomal Location 137951723-137961360 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 137955726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 186 (C186*)
Ref Sequence ENSEMBL: ENSMUSP00000076367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077119]
AlphaFold Q921C1
Predicted Effect probably null
Transcript: ENSMUST00000077119
AA Change: C186*
SMART Domains Protein: ENSMUSP00000076367
Gene: ENSMUSG00000056966
AA Change: C186*

DomainStartEndE-ValueType
Blast:CNX 53 86 7e-11 BLAST
Connexin_CCC 159 225 8.64e-24 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik T C 2: 18,032,007 (GRCm39) Y37C unknown Het
Arhgap20 T A 9: 51,759,945 (GRCm39) C599S probably benign Het
Bcl6b C A 11: 70,119,942 (GRCm39) R15L probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dchs1 C T 7: 105,406,530 (GRCm39) D2262N probably damaging Het
Dsg4 A G 18: 20,604,553 (GRCm39) M1007V probably benign Het
Fgd6 A G 10: 93,959,152 (GRCm39) K1032R possibly damaging Het
Fras1 T A 5: 96,839,230 (GRCm39) M1583K probably benign Het
Gm14496 A G 2: 181,633,136 (GRCm39) R40G probably benign Het
Ibtk T C 9: 85,608,665 (GRCm39) R416G probably damaging Het
Kcnc4 A G 3: 107,355,294 (GRCm39) F385L probably damaging Het
Mapk8ip2 T C 15: 89,341,700 (GRCm39) S304P probably damaging Het
Mbd6 A G 10: 127,123,263 (GRCm39) probably null Het
Mroh2b T C 15: 4,935,114 (GRCm39) F183S probably benign Het
Nrg1 T A 8: 32,312,316 (GRCm39) T334S probably damaging Het
Pigw C T 11: 84,769,192 (GRCm39) V46I probably benign Het
Pkdrej T C 15: 85,701,631 (GRCm39) E1435G probably benign Het
Pkhd1 T C 1: 20,290,253 (GRCm39) probably benign Het
Prkdc A T 16: 15,570,590 (GRCm39) probably benign Het
Ptprd A T 4: 76,051,521 (GRCm39) I247N probably damaging Het
Rfx1 A G 8: 84,822,471 (GRCm39) Q923R possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rps6ka2 T A 17: 7,563,415 (GRCm39) F608I probably benign Het
Slc13a1 A T 6: 24,150,707 (GRCm39) probably null Het
Slc6a20b C T 9: 123,436,667 (GRCm39) V249M probably damaging Het
Slc9c1 A G 16: 45,401,961 (GRCm39) I783V possibly damaging Het
Swap70 G T 7: 109,873,856 (GRCm39) M401I probably benign Het
Tmco4 A T 4: 138,757,188 (GRCm39) I407F probably damaging Het
Trpm4 T A 7: 44,967,912 (GRCm39) S340C possibly damaging Het
Tsc2 T C 17: 24,848,943 (GRCm39) E79G probably damaging Het
Ubr1 A C 2: 120,771,572 (GRCm39) S439A probably benign Het
Vmn1r73 T C 7: 11,490,710 (GRCm39) V176A probably benign Het
Vmn2r17 G A 5: 109,568,077 (GRCm39) D67N probably benign Het
Wasf1 C T 10: 40,806,705 (GRCm39) T116M probably damaging Het
Zkscan3 A T 13: 21,578,164 (GRCm39) M241K probably benign Het
Other mutations in Gjc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
IGL01404:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
R0130:Gjc3 UTSW 5 137,956,202 (GRCm39) missense probably benign 0.15
R0322:Gjc3 UTSW 5 137,955,760 (GRCm39) missense possibly damaging 0.87
R2141:Gjc3 UTSW 5 137,955,808 (GRCm39) missense probably damaging 1.00
R3885:Gjc3 UTSW 5 137,956,105 (GRCm39) missense possibly damaging 0.74
R3889:Gjc3 UTSW 5 137,956,105 (GRCm39) missense possibly damaging 0.74
R5209:Gjc3 UTSW 5 137,955,533 (GRCm39) missense probably benign 0.43
R5444:Gjc3 UTSW 5 137,955,809 (GRCm39) missense probably damaging 1.00
R6964:Gjc3 UTSW 5 137,955,759 (GRCm39) missense probably benign 0.04
R8514:Gjc3 UTSW 5 137,955,772 (GRCm39) missense probably damaging 1.00
Z1177:Gjc3 UTSW 5 137,955,823 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16