Incidental Mutation 'R8187:Gjd3'
ID 634932
Institutional Source Beutler Lab
Gene Symbol Gjd3
Ensembl Gene ENSMUSG00000047197
Gene Name gap junction protein, delta 3
Synonyms Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1
MMRRC Submission 067610-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R8187 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98873006-98873842 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 102691381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 207 (Y207*)
Ref Sequence ENSEMBL: ENSMUSP00000066901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]
AlphaFold Q91YD1
Predicted Effect probably null
Transcript: ENSMUST00000068933
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: Y207*

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 null
Transcript: ENSMUST00000092567
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: Y207*

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 null
Transcript: ENSMUST00000107075
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: Y207*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,115,913 (GRCm39) *122L probably null Het
4930438A08Rik A G 11: 58,180,548 (GRCm39) S200G Het
Adgre1 T A 17: 57,727,349 (GRCm39) S426R probably benign Het
Adgrg1 A G 8: 95,732,446 (GRCm39) E229G probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef39 A T 4: 43,498,999 (GRCm39) L84Q probably damaging Het
Bpifb9a A G 2: 154,111,377 (GRCm39) I544V probably benign Het
Brwd1 A T 16: 95,803,934 (GRCm39) L2079I probably damaging Het
Ccnh T A 13: 85,337,656 (GRCm39) M1K probably null Het
Cdh16 T C 8: 105,344,870 (GRCm39) N415S probably damaging Het
Chuk T C 19: 44,079,551 (GRCm39) N317D probably benign Het
Cnot10 A T 9: 114,426,556 (GRCm39) C665* probably null Het
Csmd1 G T 8: 16,177,188 (GRCm39) H1358Q probably damaging Het
Cyp4f37 T C 17: 32,854,171 (GRCm39) V540A probably benign Het
Daam1 A G 12: 71,942,602 (GRCm39) D22G unknown Het
Dhdds A G 4: 133,727,679 (GRCm39) probably benign Het
Dnah5 T C 15: 28,384,355 (GRCm39) V3033A probably damaging Het
Dync1i2 A G 2: 71,044,865 (GRCm39) K25R probably benign Het
Efhc1 T A 1: 21,030,396 (GRCm39) S110T probably damaging Het
Emilin3 T C 2: 160,750,000 (GRCm39) N583S possibly damaging Het
Eri2 A G 7: 119,384,767 (GRCm39) V578A probably damaging Het
F2rl2 A T 13: 95,837,911 (GRCm39) I319L probably benign Het
Gm19965 T A 1: 116,749,532 (GRCm39) C404* probably null Het
Gm2832 A T 14: 41,000,915 (GRCm39) H51L Het
Gpam T C 19: 55,066,269 (GRCm39) T631A probably benign Het
Hdac2 T C 10: 36,864,132 (GRCm39) S114P probably damaging Het
Hsd3b1 T A 3: 98,759,933 (GRCm39) T353S probably damaging Het
Idh1 T C 1: 65,198,700 (GRCm39) D390G probably damaging Het
Il36g T G 2: 24,082,617 (GRCm39) L131V probably damaging Het
Irs1 G T 1: 82,266,021 (GRCm39) P732T probably damaging Het
Kansl1l T A 1: 66,840,896 (GRCm39) I135F possibly damaging Het
Mcc A G 18: 44,667,327 (GRCm39) V208A possibly damaging Het
Mgrn1 A G 16: 4,738,229 (GRCm39) N261S probably benign Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nr1h5 G T 3: 102,861,986 (GRCm39) H94Q probably benign Het
Nsmce4a A G 7: 130,144,519 (GRCm39) V128A probably benign Het
Or5w14 T G 2: 87,541,624 (GRCm39) S209R probably benign Het
Or6y1 TTGTGTG TTGTG 1: 174,276,838 (GRCm39) probably null Het
Osmr T A 15: 6,850,485 (GRCm39) Y707F probably damaging Het
Pck1 G T 2: 172,997,033 (GRCm39) R225L probably benign Het
Prom1 A T 5: 44,191,708 (GRCm39) L354Q probably damaging Het
Rev3l C A 10: 39,682,693 (GRCm39) Q300K probably benign Het
Rin3 T A 12: 102,292,066 (GRCm39) C88S unknown Het
Slc37a4 T C 9: 44,311,291 (GRCm39) V194A possibly damaging Het
Smpd4 T A 16: 17,446,999 (GRCm39) H242Q probably damaging Het
Spen T C 4: 141,200,216 (GRCm39) I2804V possibly damaging Het
Srrm4 A C 5: 116,587,680 (GRCm39) F359L unknown Het
Svs5 A G 2: 164,079,692 (GRCm39) Y72H possibly damaging Het
Tmem158 T A 9: 123,088,875 (GRCm39) T246S unknown Het
Ttn A G 2: 76,633,735 (GRCm39) V14038A probably benign Het
Ttn A G 2: 76,559,790 (GRCm39) I29537T probably damaging Het
Ttn A G 2: 76,626,069 (GRCm39) S14997P probably damaging Het
Vmn1r231 A T 17: 21,110,893 (GRCm39) D7E probably benign Het
Vmn2r14 A G 5: 109,368,420 (GRCm39) S191P probably benign Het
Zfp599 G T 9: 22,161,111 (GRCm39) Y351* probably null Het
Zfp729a T A 13: 67,769,918 (GRCm39) K104* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCCGGATCATCAAGTTCCC -3'
(R):5'- GGATCCTATGATGTATCCAGAGATGG -3'

Sequencing Primer
(F):5'- GGATCATCAAGTTCCCTCCTTTTAC -3'
(R):5'- TATGATGTATCCAGAGATGGAGTTAG -3'
Posted On 2020-07-13