Incidental Mutation 'IGL02083:Gjd3'
ID 283442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjd3
Ensembl Gene ENSMUSG00000047197
Gene Name gap junction protein, delta 3
Synonyms Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # IGL02083
Quality Score
Chromosome 11
Chromosomal Location 98873006-98873842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98873587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000055246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062931]
AlphaFold Q91YD1
Predicted Effect probably damaging
Transcript: ENSMUST00000062931
AA Change: S86P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055246
Gene: ENSMUSG00000047197
AA Change: S86P

CNX 43 76 1.85e-14 SMART
Connexin_CCC 146 212 3.14e-35 SMART
low complexity region 222 234 N/A INTRINSIC
low complexity region 251 268 N/A INTRINSIC
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 is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated atrioventricular nodal conduction velocity in the heart but no significant alterations in excitability or fast network oscillations in the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,780,336 (GRCm39) L36V possibly damaging Het
Aoc1l1 G A 6: 48,953,194 (GRCm39) G373D probably damaging Het
Atp13a3 T C 16: 30,166,524 (GRCm39) T540A possibly damaging Het
Bend5 A C 4: 111,316,964 (GRCm39) I376L probably benign Het
Ccdc138 T C 10: 58,380,736 (GRCm39) probably benign Het
Cdh10 T A 15: 18,986,975 (GRCm39) I402N possibly damaging Het
Cfap44 T C 16: 44,257,525 (GRCm39) V1020A probably damaging Het
Chd2 A T 7: 73,130,816 (GRCm39) S749T possibly damaging Het
Enpp3 T A 10: 24,652,692 (GRCm39) D755V probably damaging Het
Fmo6 T A 1: 162,748,033 (GRCm39) K344* probably null Het
Gabbr1 A G 17: 37,380,957 (GRCm39) T767A possibly damaging Het
Grin1 A G 2: 25,188,513 (GRCm39) V432A possibly damaging Het
Igf2r A T 17: 12,912,079 (GRCm39) C1849* probably null Het
Jcad G T 18: 4,680,266 (GRCm39) probably benign Het
Mrgpra4 A T 7: 47,630,808 (GRCm39) C264* probably null Het
Naa80 G T 9: 107,460,798 (GRCm39) R231L probably benign Het
Napepld T C 5: 21,881,065 (GRCm39) Y110C probably damaging Het
Ncapd3 A G 9: 26,963,117 (GRCm39) E474G probably damaging Het
Pkhd1 T A 1: 20,271,451 (GRCm39) D3034V probably damaging Het
Plxnc1 T C 10: 94,758,587 (GRCm39) T370A possibly damaging Het
Ptger4 C T 15: 5,272,655 (GRCm39) R13H probably benign Het
Scg2 T A 1: 79,413,941 (GRCm39) T261S probably benign Het
Sfswap T C 5: 129,616,855 (GRCm39) V433A probably benign Het
Sipa1l3 A G 7: 29,086,686 (GRCm39) Y635H probably damaging Het
Sp5 C A 2: 70,306,758 (GRCm39) P148T possibly damaging Het
Tlr5 A G 1: 182,801,449 (GRCm39) N251S possibly damaging Het
Tmem87a A T 2: 120,227,861 (GRCm39) N95K probably damaging Het
Unc45b C T 11: 82,813,745 (GRCm39) T384M probably damaging Het
Unc5c T C 3: 141,420,408 (GRCm39) L117P probably damaging Het
Vcan T C 13: 89,873,684 (GRCm39) N57D probably damaging Het
Zcchc8 G T 5: 123,838,981 (GRCm39) T519K probably damaging Het
Zfp729b G A 13: 67,743,349 (GRCm39) T72I probably benign Het
Other mutations in Gjd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gjd3 APN 11 102,691,552 (GRCm39) missense probably benign 0.16
IGL03164:Gjd3 APN 11 102,691,547 (GRCm39) missense possibly damaging 0.81
IGL03396:Gjd3 APN 11 102,691,353 (GRCm39) missense probably benign 0.00
PIT4812001:Gjd3 UTSW 11 102,691,807 (GRCm39) nonsense probably null
R0683:Gjd3 UTSW 11 102,691,237 (GRCm39) missense probably benign 0.00
R1642:Gjd3 UTSW 11 98,873,535 (GRCm39) missense probably benign 0.01
R1712:Gjd3 UTSW 11 102,691,706 (GRCm39) missense possibly damaging 0.96
R2267:Gjd3 UTSW 11 98,873,227 (GRCm39) missense probably damaging 0.98
R3853:Gjd3 UTSW 11 102,690,952 (GRCm39) missense probably benign 0.10
R4397:Gjd3 UTSW 11 98,873,247 (GRCm39) missense probably damaging 1.00
R4948:Gjd3 UTSW 11 102,691,247 (GRCm39) missense probably damaging 1.00
R5564:Gjd3 UTSW 11 102,691,029 (GRCm39) missense probably benign 0.04
R5811:Gjd3 UTSW 11 98,873,226 (GRCm39) missense possibly damaging 0.94
R6577:Gjd3 UTSW 11 102,691,130 (GRCm39) missense possibly damaging 0.69
R6939:Gjd3 UTSW 11 102,691,733 (GRCm39) missense probably damaging 0.98
R7263:Gjd3 UTSW 11 102,690,963 (GRCm39) missense possibly damaging 0.69
R7352:Gjd3 UTSW 11 102,691,278 (GRCm39) missense probably damaging 1.00
R7578:Gjd3 UTSW 11 98,873,301 (GRCm39) missense probably damaging 0.99
R7657:Gjd3 UTSW 11 98,873,586 (GRCm39) nonsense probably null
R7900:Gjd3 UTSW 11 102,690,920 (GRCm39) missense probably benign 0.00
R8187:Gjd3 UTSW 11 102,691,381 (GRCm39) nonsense probably null
R8544:Gjd3 UTSW 11 98,873,488 (GRCm39) nonsense probably null
R8704:Gjd3 UTSW 11 98,873,445 (GRCm39) missense probably damaging 1.00
R8778:Gjd3 UTSW 11 98,873,842 (GRCm39) start codon destroyed probably null 0.99
R8883:Gjd3 UTSW 11 102,691,769 (GRCm39) missense probably damaging 0.98
R8924:Gjd3 UTSW 11 98,873,325 (GRCm39) missense probably damaging 1.00
Z1176:Gjd3 UTSW 11 102,690,834 (GRCm39) missense unknown
Posted On 2015-04-16