Incidental Mutation 'IGL03396:Gjd3'
ID 421252
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 # IGL03396
Quality Score
Status
Chromosome 11
Chromosomal Location 98873006-98873842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102691353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 217 (K217E)
Ref Sequence ENSEMBL: ENSMUSP00000102690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]
AlphaFold Q91YD1
Predicted Effect probably benign
Transcript: ENSMUST00000068933
AA Change: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: K217E

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092567
AA Change: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: K217E

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107075
AA Change: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: K217E

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155089
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,239 (GRCm39) R457* probably null Het
Arl5b C A 2: 15,079,915 (GRCm39) T153K probably damaging Het
Arsb A T 13: 94,075,825 (GRCm39) Y436F probably benign Het
Azgp1 C T 5: 137,983,445 (GRCm39) P40L possibly damaging Het
B020004C17Rik A G 14: 57,253,993 (GRCm39) T39A possibly damaging Het
Cacna2d3 G A 14: 29,442,834 (GRCm39) Q67* probably null Het
Cdcp2 C A 4: 106,964,369 (GRCm39) Y406* probably null Het
Cep89 T A 7: 35,128,603 (GRCm39) D585E probably benign Het
Cfap65 A G 1: 74,943,801 (GRCm39) F1570S probably damaging Het
Cnfn A G 7: 25,067,783 (GRCm39) probably benign Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fra10ac1 C T 19: 38,189,994 (GRCm39) probably null Het
Il20rb T C 9: 100,341,251 (GRCm39) E285G probably damaging Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Jmjd6 A T 11: 116,732,077 (GRCm39) L208H probably damaging Het
Lilrb4b A G 10: 51,357,253 (GRCm39) I30V possibly damaging Het
Limch1 A G 5: 67,111,016 (GRCm39) N81S probably damaging Het
Mettl21e A T 1: 44,245,759 (GRCm39) N162K possibly damaging Het
Ninl A G 2: 150,808,132 (GRCm39) S299P possibly damaging Het
Obscn A G 11: 58,964,404 (GRCm39) L3046P probably benign Het
Or1j14 C A 2: 36,417,692 (GRCm39) S89R probably benign Het
Or5b98 T A 19: 12,931,184 (GRCm39) V77E probably damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Pnpla8 G A 12: 44,330,309 (GRCm39) R287H probably benign Het
Pot1a A C 6: 25,745,913 (GRCm39) I596R possibly damaging Het
Prkaa1 A G 15: 5,206,131 (GRCm39) D329G probably damaging Het
Ptprr T G 10: 116,024,235 (GRCm39) V182G probably damaging Het
Rrp1b T A 17: 32,276,237 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Slc17a6 A G 7: 51,318,840 (GRCm39) Y494C probably damaging Het
Slc38a10 A T 11: 120,019,301 (GRCm39) I360N probably damaging Het
Snrpb2 T C 2: 142,913,377 (GRCm39) F194L possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Trpv1 A G 11: 73,143,882 (GRCm39) N238S probably benign Het
Usp20 T C 2: 30,901,729 (GRCm39) V498A probably benign Het
Vmn2r23 T C 6: 123,706,585 (GRCm39) S472P probably damaging Het
Vmn2r98 A T 17: 19,290,107 (GRCm39) T548S possibly damaging Het
Zfp429 A T 13: 67,544,159 (GRCm39) probably benign Het
Other mutations in Gjd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gjd3 APN 11 102,691,552 (GRCm39) missense probably benign 0.16
IGL02083:Gjd3 APN 11 98,873,587 (GRCm39) missense probably damaging 1.00
IGL03164:Gjd3 APN 11 102,691,547 (GRCm39) missense possibly damaging 0.81
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 2016-08-02